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Molecular testing for adult type Alport syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions: This test may be useful for presymptomatic and carrier testing in families with one of the mutations and in the diagnosis of unexplained hematuria or chronic kidney disease. (Source: BioMed Central)
Source: BioMed Central - November 17, 2009 Category: Journals (General) Authors: Genevieve Pont-KingdonKelli SumnerFriederike GedgeChris MillerJoyce DenisonMartin GregoryElaine Lyon Source Type: journals

Pregnancy complicated with Alport syndrome: A good obstetric outcome and failure to diagnose an infant born to a mother with Alport syndrome by umbilical cord immunofluorescence stainingEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report a primigravida with Alport syndrome with mild proteinuria who gave birth abdominally to a term male infant without deteriorating renal function during pregnancy. The umbilical cord from not only this infant but also from an Alport (-) control infant showed negative immunofluorescence staining for the alpha 5 chain of type IV collagen. Women with Alport syndrome without renal dysfunction may follow an uneventful obstetrical course until term. The cord may not be suitable for diagnosing Alport syndrome with immunofluorescence staining. (Source: Journal of Obstetrics and Gynaecology Research)
Source: Journal of Obstetrics and Gynaecology Research - November 9, 2009 Category: OBGYN Authors: Shigeki Matsubara, Yoshihiko Ueda, Hisako Takahashi, Takashi Nagai, Tomoyuki Kuwata, Shigeaki Muto, Takehiko Yamaguchi, Toshihiro Takizawa, Mitsuaki Suzuki Source Type: journals

18F-fluorodeoxyglucose PET/CT in a patient with esophageal and genital leiomyomatosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Diffuse esophageal leiomyomatosis is a rare benign tumor, which can be associated with leiomyoma in female genital tracts involving the uterus, vagina, and vulva. Alport syndrome, an inherited disorder that includes the kidneys, eyes, and sensorineural hearing loss, is also rarely associated with these multiple leiomyomatosis. In our case, (18)F-fluorodeoxyglucose positron emission tomography/computed tomography was used to distinguish esophageal and genital leiomyomatosis from malignant masses. PMID: 19885320 [PubMed - in process] (Source: Korean J Radiol)
Source: Korean J Radiol - November 1, 2009 Category: Radiology Authors: An YS, Kim DY Tags: Korean J Radiol Source Type: journals

Drugs controlling proteinuria of patients with Alport syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: ACEI is effective in controlling proteinuria of AS patients. Tripterygium should be carefully administered in controlling proteinuria of AS patients. PMID: 19911149 [PubMed - in process] (Source: World Journal of Pediatrics : WJP)
Source: World Journal of Pediatrics : WJP - November 1, 2009 Category: Pediatrics Authors: Li JG, Ding J, Wang F, Zhang HW Tags: World J Pediatr Source Type: journals

Unravelling the genetic basis of renal diseases; from single gene to multifactorial disordersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Chronic kidney disease is common with up to 5% of the adult population reported to have an estimated glomerular filtration rate of < 60 ml/min/1.73 m2. A large number of pathogenic mutations have been identified that are responsible for 'single gene' renal disorders, such as autosomal dominant polycystic kidney disease and X-linked Alport syndrome. These single gene disorders account for < 15% of the burden of end-stage renal disease that requires dialysis or kidney transplantation. It has proved more difficult to identify the genetic susceptibility underlying common, complex, multifactorial kidney conditions, such as diab...
Source: The Journal of Pathology - October 31, 2009 Category: Pathology Authors: Amy J McKnight, Diane Currie, Alexander P Maxwell Source Type: journals

Epstein syndrome with rapid progression to end stage renal disease.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The association of haematological abnormalities and hereditary nephritis is rare; it is mainly included in a spectrum of autosomal dominant macrothrombocytopenias: May-Hegglin anomaly, Fechtner, Sebastian, Epstein and Alport syndrome with macro thrombocytopenia. We are presenting a missed case of a boy who presented with epistaxis and his diagnostic work up revealed macrothrombocytopenia, sensorineural hearing loss and chronic nephropathy which constitute the Epstein syndrome, with rapid deterioration of kidney function. PMID: 19861875 [PubMed - in process] (Source: Saudi Journal of Kidney Diseases and Transplantation)
Source: Saudi Journal of Kidney Diseases and Transplantation - October 30, 2009 Category: Urology & Nephrology Authors: Alhindawi E, Al-Jbour S Tags: Saudi J Kidney Dis Transpl Source Type: journals

Stem Cells Offer New Hope For Kidney Disease PatientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Several cell-based therapy approaches could provide new treatments for patients with Alport syndrome, according to a new study. (Source: ScienceDaily Headlines)
Source: ScienceDaily Headlines - October 23, 2009 Category: Science Source Type: news

Stem Cells Offer New Hope For Kidney Disease PatientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Several cell-based therapy approaches could provide new treatments for patients with Alport syndrome, reports an upcoming paper in the Journal of the American Society of Nephrology (JASN). (Source: Health News from Medical News Today)
Source: Health News from Medical News Today - October 16, 2009 Category: Consumer Health News Tags: Urology / Nephrology Source Type: news

Cell-Based Therapies May Be Beneficial in Alport SyndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Cell-based therapies may offer hope to patients with Alport syndrome, according to an animal study published online Oct. 15 in the Journal of the American Society of Nephrology. (Source: Modern Medicine)
Source: Modern Medicine - October 15, 2009 Category: Journals (General) Source Type: info

Analysis of the Glomerular Basement Membrane in Images of Renal Biopsies Using the Split-and-Merge Method: A Pilot StudyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Abnormal thinning, thickening, or variation in the thickness of the glomerular basement membrane (GBM) are caused by familial hematuria, diabetes mellitus, and Alport syndrome, respectively. We propose a semi-automated procedure for the segmentation and analysis of the thickness of the GBM in images of renal biopsy samples obtained by using a transmission electron microscope (TEM). The procedure includes the split-and-merge algorithm, morphological image processing, skeletonization, and statistical analysis of the width of the GBM. The procedure was tested with 34 TEM images of six patients. The mea...
Source: Journal of Digital Imaging - September 17, 2009 Category: Radiology Tags: Journal of Digital Imaging Source Type: journals

CKD in MYH9-Related DisordersEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
MYH9-related disorders are rare causes of chronic kidney disease (CKD) presenting as chronic glomerulonephritis and derive from mutations of the MYH9 gene, which encodes for the nonmuscle myosin heavy chain IIA. These disorders are autosomal dominant and include May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes. Diagnosis of these disorders is made first in early childhood because of the characteristic peripheral-blood smear findings of thrombocytopenia, giant platelets, and variably detected basophilic cytoplasmic inclusion bodies in leukocytes. CKD typically develops later in adulthood and may progress t...
Source: American Journal of Kidney Diseases - September 2, 2009 Category: Urology & Nephrology Authors: Neeraj Singh, Neha Nainani, Pradeep Arora, Rocco C. Venuto Tags: Narrative Review Source Type: journals

A rare case of MYH9 disorders presenting with macrothrombocytopenia and deafness caused by MYH9-R702C mutationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Giant platelets often appear in acquired thrombocytopenia, such as idiopathic thrombocytopenic purpura (ITP) and myelodysplastic syndrome1. Congenital macrothrombocytopenia is rare, and consists of a variety of diseases , including 4 autosomal dominant disorders, May-Hegglin anomaly, and Sebastian, Fechtner, and Epstein syndromes, which have neutrophil inclusion bodies (Döhle-like bodies), or Alport-like symptoms (nephritis, deafness, or cataract) . These diseases have been differentiated by expression pattern and morphology of neutrophil inclusion bodies, or the clinical features of Alport-like manifestations . Mutations...
Source: Thrombosis Research - August 31, 2009 Category: Hematology Authors: Rumi Kodama, Takeshi Taketani, Shinji Kunishima, Seiji Mishima, Yoko Yoshikawa, Rie Kanai, Tamiko Suyama, Isao Yoshino, Hiroyuki Kunishi, Hiroshi Shibata, Atsushi Nagai, Seiji Yamaguchi, Junichi Masuda Tags: Letters to the Editors-in Chief Source Type: journals

Clinico-pathological correlations in 127 patients in 11 large pedigrees, segregating one of three heterozygous mutations in the COL4A3/ COL4A4 genes associated with familial haematuria and significant late progression to proteinuria and chronic kidney disease from focal segmental glomerulosclerosisEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions. Our data confirm for the first time a definite association of heterozygous COL4A3/COL4A4 mutations with familial microscopic haematuria, thin basement membrane nephropathy and the late development of familial proteinuria, CRF, and ESRD, due to FSGS, indicating that the term ‘benign familial haematuria’ is a misnomer, at least in this cohort. A strong hypothesis for a causal relationship between these mutations and FSGS is also made. Benign familial haematuria may not be so benign as commonly thought. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - August 16, 2009 Category: Urology & Nephrology Authors: Pierides, A., Voskarides, K., Athanasiou, Y., Ioannou, K., Damianou, L., Arsali, M., Zavros, M., Pierides, M., Vargemezis, V., Patsias, C., Zouvani, I., Elia, A., Kyriacou, K., Deltas, C. Tags: Clinical Nephrology Source Type: journals

Anesthetic management of a patient with Alport-leiomyomatosis syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report the anesthetic management of esophagectomy for a patient with Alport-leiomyomatosis syndrome. A 23-year-old woman complained of dysphagia and severe chest pain. Her chest X-ray, computed tomography (CT), and magnetic resonance imaging (MRI) showed an enlarged esophagus, in contact with the trachea, heart, aorta, and large vessels. She frequently experienced severe asthma attacks. Because various risks in both respiration and circulation, especially in anesthesia induction, were of concern, her right femoral vessels were exposed, for the emergency use of percutaneous cardiopulmonary support (PCPS), prior to an...
Source: Journal of Anesthesia - August 14, 2009 Category: Anesthesiology Tags: Journal of Anesthesia Source Type: journals

Postrenal biopsy AVM leading to severe hypertension and dilated cardiomyopathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract A 3-year-old girl with Alport syndrome presented with decompensated heart failure from hypertension-induced cardiomyopathy 6 months following renal biopsy. Selective renal angiography revealed a large left renal arteriovenous fistula (AVF) with poor perfusion to the left renal parenchyma. The AVF was treated by transcatheter embolization using an Amplatzer vascular plug. Her blood pressure normalized after embolization, and her cardiac function normalized over the following 4 months. Content Type Journal ArticleCategory Brief ReportDOI 10.1007/s00467-009-1268-9Authors Nao Sasaki, Divis...
Source: Pediatric Nephrology - August 3, 2009 Category: Urology & Nephrology Tags: Pediatric Nephrology Source Type: journals

Retinal Findings in Patients with Alport Syndrome: Expanding the Clinical Spectrum.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: Patients with AS can present with a variety of ophthalmic manifestations. Bull's eye maculopathy and vitelliform deposits can be features of AS. The mechanism of these new macular findings remains unknown. Possible pathophysiologic overlap with other maculopathies including age-related macular degeneration is discussed. PMID: 19635720 [PubMed - as supplied by publisher] (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - July 25, 2009 Category: Opthalmology Authors: Fawzi AA, Lee NG, Eliott D, Song J, Stewart JM Tags: Br J Ophthalmol Source Type: journals

[Unclear deterioration of vison after renal transplant.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
A 27-year-old female patient reported a variable but unsatisfactory visual acuity which had persisted for several years. The patient had been dependent on dialysis from the age of 14 years old and from then on also needed a hearing aid. A kidney had been transplanted 5 years ago. The diagnosis was anterior lenticonus due to Alport syndrome. PMID: 19585124 [PubMed - as supplied by publisher] (Source: Der Ophthalmologe)
Source: Der Ophthalmologe - July 8, 2009 Category: Opthalmology Authors: Hild M, Walter HS, Milioti G, Seitz B Tags: Ophthalmologe Source Type: journals

Childhood primary glomerular diseases in the western region of Saudi Arabia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report our institute experience on primary glomerular disease in children in the western region of Saudi Arabia over the last 18 years (1988 to 2006). A total of 169 cases were identified as primary glomerular diseases in children and adolescent with age range from first year of life till 18 years. Minimal change disease and focal segmental glomerulosclerosis were the com-monly encountered primary glomerular diseases (20.1%and 19.5% respectively), mesangioprolifera-tive glomerulonephritis IgM nephropathy (14.8%), IgA nephropathy (10.7%), postinfectious glome-rulonephritis (9.5%), membranous glomerulonephritis (7.1%), me...
Source: Saudi Journal of Kidney Diseases and Transplantation - June 30, 2009 Category: Urology & Nephrology Authors: Jalalah SM, Jamal AA Tags: Saudi J Kidney Dis Transpl Source Type: journals

Ocular manifestations and surgical results in patients with Alport syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We report the ocular manifestations of Alport syndrome and the surgical results in 4 patients. All 4 patients had anterior lenticonus; 2 also had posterior lenticonus in both eyes, 3 had flecked retina, and 1 had posterior polymorphous dystrophy. In both eyes of the 4 patients, phacoemulsification with intraocular lens (IOL) implantation was performed to treat anterior and posterior lenticonus. The postoperative visual acuity was excellent in all patients. We recommend phacoemulsification with IOL implantation as a safe and effective procedure in patients with lenticonus secondary to Alport syndrome. (Source: Journal of Ca...
Source: Journal of Cataract and Refractive Surgery - June 25, 2009 Category: Opthalmology Authors: Göktuğ Seymenoğlu, Esin F. Baser Tags: Case Reports Source Type: journals

Oculoleptomeningeal amyloidosis in 3 individuals with the transthyretin variant Tyr69His.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: This report adds to the literature regarding OLMA and its association with a Tyr69His mutation in the TTR gene. Despite no proven therapy at this time, symptomatic treatment with pars plana vitrectomy appears to be beneficial. PMID: 19491989 [PubMed - in process] (Source: Canadian Journal of Ophthalmology)
Source: Canadian Journal of Ophthalmology - May 31, 2009 Category: Opthalmology Authors: Schweitzer K, Ehmann D, Garcia R, Alport E Tags: Can J Ophthalmol Source Type: journals

Array-CGH in unclear syndromic nephropathies identifies a microdeletion in Xq22.3-q23Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract To investigate whether submicroscopic chromosomal deletions or duplications can be causative of unclear syndromic nephropathies, we analyzed ten patients with congenital abnormalities of the kidney and urinary tract or glomerulopathies combined with important extrarenal anomalies by whole-genome array-based comparative genomic hybridization. In a 14-year-old girl presenting with hematuria, proteinuria, mental retardation (MR), sensorineural hearing loss, dysmorphisms, and epilepsy, we detected a microdeletion in chromosome Xq22.3-q23. This deletion was verified and characterized by fluorescence in s...
Source: Pediatric Nephrology - May 15, 2009 Category: Urology & Nephrology Tags: Pediatric Nephrology Source Type: journals

Identification of novel variants in the COL4A4 gene in Korean patients with thin basement membrane nephropathy.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: The frequency of COL4A4 mutations in Korean patients with TBMN is low and the other cases may have mutations in other genes like COL4A3. Screening of the COL4A3 gene and finding a novel causative gene for TBMN will help clarify the pathogenesis of this disorder and perhaps for distinguishing TBMN from Alport syndrome. PMID: 19675380 [PubMed - in process] (Source: The Indian Journal of Medical Research)
Source: The Indian Journal of Medical Research - April 30, 2009 Category: Biomedical Science Authors: Baek JI, Choi SJ, Park SH, Choi JY, Kim CD, Kim YL, Kim UK Tags: Indian J Med Res Source Type: journals

Women with Alport syndrome: risks and rewards of kidney donationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - April 14, 2009 Category: Urology & Nephrology Authors: Kashtan, C. E. Tags: Editorial Comment Source Type: journals

Autosomal dominant Alport syndrome: molecular analysis of the COL4A4 gene and clinical outcomeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions. These data indicate autosomal dominant Alport syndrome as a disease with a low risk of ocular and hearing anomalies but with a significant risk to develop renal failure although at an older age than the X-linked form. We were unable to demonstrate a genotype–phenotype correlation. Altogether, these data make difficult the differential diagnosis with the benign familial haematuria due to heterozygous mutations of COL4A4 and COL4A3, especially in young patients, and with the X-linked form of Alport syndrome in families where only females are affected. A correct diagnosis and prognosis is based on a compreh...
Source: Nephrology Dialysis Transplantation - April 14, 2009 Category: Urology & Nephrology Authors: Marcocci, E., Uliana, V., Bruttini, M., Artuso, R., Silengo, M. C., Zerial, M., Bergesio, F., Amoroso, A., Savoldi, S., Pennesi, M., Giachino, D., Rombola, G., Fogazzi, G. B., Rosatelli, C., Martinhago, C. D., Carmellini, M., Mancini, R., Di Costanzo, G., Tags: Clinical Nephrology Source Type: journals

Living donor kidney transplantation from relatives with mild urinary abnormalities in Alport syndrome: long-term risk, benefit and outcomeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion. Living donor Tx from relatives in Alport families is an ambivalent option. Proteinuria should be an exclusion criterion. Yet, even in donors with isolated microhaematuria, families and their physicians should be aware of an increased risk of renal failure in donor and recipient. This risk might be minimized by careful donor evaluation including biopsy and nephroprotective strategies after Tx in both donor and recipient. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - April 14, 2009 Category: Urology & Nephrology Authors: Gross, O., Weber, M., Fries, J. W. U., Muller, G.-A. Tags: Transplantation Source Type: journals

Development of lupus nephritis is associated with qualitative changes in the glomerular collagen IV matrix composition.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Lupus nephritis is associated with thickening of the glomerular extracellular membranes. Distribution of collagen IV alpha-chains in the glomerular basement membrane in kidneys of lupus-prone B/W mice has been examined in this study. The results are indicative of a qualitative change in the collagen IV matrix occurring around the time of development of proteinuria, with an embryonic alpha1/alpha2 isoform replacing the normal glomerular basement membrane (GBM). These changes mimic alterations seen in Alport syndrome and coincide with an increase in collagenolytic activity within the glomerulus. It has been hypothesized ...
Source: Lupus - March 15, 2009 Category: Rheumatology Authors: Tveita A, Ninomiya Y, Sado Y, Rekvig O, Zykova S Tags: Lupus Source Type: journals

Atypical Alport syndrome associated with a novel COL4A5 mutation.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Alport syndrome is a progressive hereditary renal disease. Mutations in the genes encoding for three members of the type IV collagen protein family have been found to be the cause of the disease. Alport syndrome is often associated with sensorineural hearing loss and ocular abnormalities, and patients suffering from typical Alport syndrome usually develop end stage renal disease during adolescence or young adulthood. Here we report on a family with atypical Alport disease initially presenting as hereditary focal and segmental glomerulosclerosis. Genetic testing identified a previously undescribed COL4A5 mutation as cau...
Source: Clinical Nephrology - March 1, 2009 Category: Urology & Nephrology Authors: Höpker K, Liebau MC, Friederichsohn C, Waldherr R, Benzing T Tags: Clin Nephrol Source Type: journals

Disease recurrence in paediatric renal transplantationEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Renal transplantation (Tx) is the treatment of choice for end-stage renal disease. The incidence of acute rejection after renal Tx has decreased because of improving early immunosuppression, but the risk of disease recurrence (DR) is becoming relatively high, with a greater prevalence in children than in adults, thereby increasing patient morbidity, graft loss (GL) and, sometimes, mortality rate. The current overall graft loss to DR is 7–8%, mainly due to primary glomerulonephritis (70–80%) and inherited metabolic diseases. The more typical presentation is a recurrence of the full disease, eithe...
Source: Pediatric Nephrology - February 27, 2009 Category: Urology & Nephrology Tags: Pediatric Nephrology Source Type: journals

Patterns of primary glomerular diseases among adults in the western region of Saudi Arabia.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion this study demonstrates that MGN is the most common primary GN encountered in the studied cases, the second more frequent is FSGSC. This result is in contrast to previous reports from Saudi Arabia where MGN is reported with low frequency and FSGSC is reported the most common primary GN. PMID: 19237826 [PubMed - in process] (Source: Saudi Journal of Kidney Diseases and Transplantation)
Source: Saudi Journal of Kidney Diseases and Transplantation - February 26, 2009 Category: Urology & Nephrology Authors: Jalalah SM Tags: Saudi J Kidney Dis Transpl Source Type: journals

[Original articles] The dot-and-fleck retinopathy of X linked Alport syndrome is independent of complement factor H (CFH) gene polymorphismsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: The pathogenesis of the retinal dots and flecks in Alport syndrome is independent of CFH-dependent mechanisms and, like other clinical features, may depend on the nature of the underlying COL4A5 mutations. (Source: British Journal of Ophthalmology)
Source: British Journal of Ophthalmology - February 24, 2009 Category: Opthalmology Authors: Liu, J, Colville, D, Wang, Y Y, Baird, P N, Guymer, R H, Savige, J Tags: Original articles Source Type: journals

[Original articles] The retinal "lozenge" or "dull macular reflex" in Alport syndrome may be associated with a severe retinopathy and early-onset renal failureEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: Clinicians must be aware that the "lozenge" or "dull macular reflex" described in Alport syndrome is not a normal variant but reflects a severe, almost confluent perimacular dot and fleck retinopathy. This sign is useful diagnostically and also prognostically, since it is associated with early-onset renal failure. (Source: British Journal of Ophthalmology)
Source: British Journal of Ophthalmology - February 24, 2009 Category: Opthalmology Authors: Colville, D, Wang, Y Y, Tan, R, Savige, J Tags: Original articles Source Type: journals

Stem cell therapy for Alport syndrome: the hope beyond the hypeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
(Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - February 18, 2009 Category: Urology & Nephrology Authors: Gross, O., Borza, D.-B., Anders, H.-J., Licht, C., Weber, M., Segerer, S., Torra, R., Gubler, M.-C., Heidet, L., Harvey, S., Cosgrove, D., Lees, G., Kashtan, C., Gregory, M., Savige, J., Ding, J., Thorner, P., Abrahamson, D. R., Antignac, C., Tryggvason, Tags: Translational Nephrology Source Type: journals

Alport syndrome and thin glomerular basement membrane nephropathy: a practical approach to diagnosis.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSIONS: Although Alport syndrome variants and TBMN do not show characteristic light microscopic findings and can be difficult to differentiate from each other even by electron microscopy, using a combination of electron microscopy and immunohistology for alpha(3)(IV) and alpha(5)(IV) enables pathologists to definitively diagnose these disorders on renal biopsy in most cases. PMID: 19195966 [PubMed - in process] (Source: Archives of Pathology and Laboratory Medicine)
Source: Archives of Pathology and Laboratory Medicine - February 1, 2009 Category: Laboratory Medicine Authors: Haas M Tags: Arch Pathol Lab Med Source Type: journals

Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Content Type Journal ArticleCategory Letter to the EditorsDOI 10.1007/s00467-009-1122-0Authors Kandai Nozu, Kobe University Graduate School of Medicine Department of Pediatrics Kusunokicho 7-5-1, Chuo Kobe 650-0017 Hyogo JapanRafal Przybyslaw Krol, Kobe University Graduate School of Medicine Department of Pediatrics Kusunokicho 7-5-1, Chuo Kobe 650-0017 Hyogo JapanKoichi Nakanishi, Wakayama Medical University Department of Pediatrics Wakayama JapanNorishige Yoshikawa, Wakayama Medical University Department of Pediatrics Wakayama JapanYoshimi Nozu, Kobe University Graduate School of Medicine Department of Pediatrics Kus...
Source: Pediatric Nephrology - January 24, 2009 Category: Urology & Nephrology Tags: Pediatric Nephrology Source Type: journals

Identification of the first in cis mutations in MYH9 disorderEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Here, we report the first in cis mutations in exon 1 of the MYH9 gene in a patient with MYH9 disorder. The patient was a 5-yr-old girl with macrothrombocytopenia and conspicuous cytoplasmic inclusion bodies in neutrophils. Immunofluorescence analysis of neutrophil non-muscle myosin heavy chain-II A (NMMHC-IIA) indicated several cytoplasmic spots of NMMHC-IIA aggregates that were circular to oval in shape (type II pattern). Mutational analysis showed two mutations, c.99G > T and c.103C > G, which would result in p.W33C and p.P35A, respectively, in exon 1 of the MYH9 gene. In addition, concurrent mutations were present on th...
Source: European Journal of Haematology - January 13, 2009 Category: Hematology Authors: Yuji Miyajima, Shinji Kunishima Source Type: journals

[Glycobiology and Extracellular Matrices] Identification of Noncollagenous Sites Encoding Specific Interactions and Quaternary Assembly of {alpha}3{alpha}4{alpha}5(IV) Collagen: IMPLICATIONS FOR ALPORT GENE THERAPYEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Defective assembly of 345(IV) collagen in the glomerular basement membrane causes Alport syndrome, a hereditary glomerulonephritis progressing to end-stage kidney failure. Assembly of collagen IV chains into heterotrimeric molecules and networks is driven by their noncollagenous (NC1) domains, but the sites encoding the specificity of these interactions are not known. To identify the sites directing quaternary assembly of 345(IV) collagen, correctly folded NC1 chimeras were produced, and their interactions with other NC1 monomers were evaluated. All 1/5 chimeras containing 5NC1 residues 188-227 replicated the ability of 5N...
Source: Journal of Biological Chemistry - December 5, 2008 Category: Chemistry Authors: Kang, J. S., Colon, S., Hellmark, T., Sado, Y., Hudson, B. G., Borza, D.-B. Tags: Glycobiology and Extracellular Matrices Source Type: journals

The dot and fleck retinopathy of X-linked Alport sydnrome is independent of complement factor H (CFH) gene polymorphisms.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: The pathogenesis of the retinal dots and flecks in Alport syndrome is independent of CFH-dependent mechanisms and, like other clinical features, may depend on the nature of the underlying COL4A5 mutations. PMID: 19019939 [PubMed - as supplied by publisher] (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - November 19, 2008 Category: Opthalmology Authors: Liu J, Colville D, Wang YY, Baird PN, Guymer RH, Savige J Tags: Br J Ophthalmol Source Type: journals

The retinal 'lozenge' or 'dull macular reflex' in Alport syndrome is associated with a severe retinopathy and early onset renal failure.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: Clinicians must be aware the 'lozenge' or 'dull macular reflex' described in Alport syndrome is not a normal variant but reflects a severe almost confluent perimacular dot and fleck retinopathy. This sign is useful diagnostically and also prognostically since it is associated with early onset renal failure. PMID: 19019929 [PubMed - as supplied by publisher] (Source: The British Journal of Ophthalmology)
Source: The British Journal of Ophthalmology - November 19, 2008 Category: Opthalmology Authors: Colville D, Wang YY, Tan R, Savige J Tags: Br J Ophthalmol Source Type: journals

Antigen retrieval with protease digestion applied in immunohistochemical diagnosis of Alport syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions. Compared to the autoclave heating method, protease antigen retrieval is more convenient and effective and can be used to restore type IV collagen chains on paraffin-embedded renal sections for the diagnosis of AS. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - October 15, 2008 Category: Transplant Surgery Authors: Guan, N., Yu, L.-X., Wu, G.-H., Xing, Y., Ding, J. Tags: Clinical Nephrology Source Type: journals

Deletion of Cd151 Results in a Strain-Dependent Glomerular Disease Due to Severe Alterations of the Glomerular Basement Membrane.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
In conclusion, CD151 appears to be involved in the establishment, maturation, and/or maintenance of the GBM structure in addition to its role in integrin-mediated adhesion strengthening. PMID: 18787104 [PubMed - as supplied by publisher] (Source: The American Journal of Pathology)
Source: The American Journal of Pathology - September 11, 2008 Category: Pathology Authors: Baleato RM, Guthrie PL, Gubler MC, Ashman LK, Roselli S Tags: Am J Pathol Source Type: journals

Cryoprecipitate use in 25 Canadian hospitals: commonly used outside of the published guidelines.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
CONCLUSION: A 2-month audit of cryoprecipitate use in Canada revealed that the majority of cryoprecipitate use in Canada is not in accordance with published guidelines. PMID: 18764824 [PubMed - as supplied by publisher] (Source: Transfusion)
Source: Transfusion - August 28, 2008 Category: Hematology Authors: Alport EC, Callum JL, Nahirniak S, Eurich B, Hume HA Tags: Transfusion Source Type: journals

The R229Q mutation in NPHS2 may predispose to proteinuria in thin-basement-membrane nephropathyEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Abstract Thin-basement-membrane nephropathy (TBMN) is characterized by persistent dysmorphic hematuria, and the presence of proteinuria is a risk factor for renal impairment. TBMN is often due to mutations in the COL4A3 and COL4A4 genes, and this study determined whether additional mutations in genes encoding other structures in the glomerular filtration barrier contributed to the development of proteinuria. Fifty-six unrelated individuals with TBMN including 18 (32%) with proteinuria ≥ 300 mg/L and ten (18%) with proteinuria ≥ 500 mg/L were studied. Deoxyribonucleic acid (DNA) was screened for ...
Source: Pediatric Nephrology - August 26, 2008 Category: Urology & Nephrology Tags: Pediatric Nephrology Source Type: journals

Somatic mosaicism for a mutation of the COL4A5 gene is a cause of mild phenotype male Alport syndromeEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusions. Our findings indicate that somatic mosaicism for COL4A5 is responsible for male X-linked Alport syndrome with an 5 mosaic staining pattern. Several cases with somatic mosaicism have previously been reported, however, this is the first case where the presence of this mutation was proved with a comprehensive analysis of genomic DNA, mRNA and 5 expression in the tissues. Somatic mosaicism may thus be one of the causes of the mild phenotype in Alport syndrome. (Source: Nephrology Dialysis Transplantation)
Source: Nephrology Dialysis Transplantation - July 28, 2008 Category: Transplant Surgery Authors: Krol, R. P., Nozu, K., Nakanishi, K., Iijima, K., Takeshima, Y., Fu, X. J., Nozu, Y., Kaito, H., Kanda, K., Matsuo, M., Yoshikawa, N. Tags: Original Article Source Type: journals

Detection of large deletion mutations in the COL4A5 gene of female Alport syndrome patientsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This report concerns two female patients with X-linked Alport syndrome. Although mutational analysis of the COL4A5 gene was conducted with direct sequencing using genomic DNA and mRNA extracted from leukocytes, the results were negative for detection of mutations. Semi-quantitative PCR using genomic DNA was therefore conducted to detect large heterozygous deletions. The results were that the first patient showed complete loss of the COL4A5 gene and the second patient showed deletion from exons 37 to 51. Our patients possessed large heterozygous deletions in the COL4A5 gene that could not be detected with the standard d...
Source: Pediatric Nephrology - June 27, 2008 Category: Urology & Nephrology Tags: Pediatric Nephrology Source Type: journals

MLPA and cDNA analysis improves COL4A5 mutation detection in X-linked Alport syndrome.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
The X-linked form of Alport syndrome (AS) is caused by mutations in the COL4A5 gene encoding the alpha5 chain of type IV collagen. Most COL4A5 mutations are individual, and mutation analysis is complicated by the size of the gene and the number of exons. Larger structural rearrangements account for 10-15% of mutations. We have established a method for mutation analysis of COL4A5 based on reverse transcriptase-polymerase chain reaction analysis of mRNA from cultured skin fibroblasts and multiplex ligation-dependent probe amplification (MLPA) on genomic DNA. One advantage of using skin biopsies for the mRNA analysis is t...
Source: Clinical Genetics - June 26, 2008 Category: Stem Cells Authors: Hertz J, Juncker I, Marcussen N Tags: Clin Genet Source Type: journals

A primer on recurrent and de novo glomerulonephritis in renal allografts.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Accumulating evidence indicates that recurrent glomerulonephritis is the third most important cause of renal allograft loss at 10 years after transplantation. The proteinuria and elevated serum creatinine levels that result from recurrent glomerulonephritis are associated with cardiovascular morbidity and mortality. The exact prevalence of either recurrent or de novo post-transplantation glomerulonephritis is unknown because a considerable number of patients never undergo allograft biopsy, meaning that glomerulonephritis remains undiagnosed and a diagnosis of 'chronic rejection/chronic allograft nephropathy' is sometim...
Source: Nature Clinical Practice. Nephrology. - June 17, 2008 Category: Urology & Nephrology Authors: Ivanyi B Tags: Nat Clin Pract Nephrol Source Type: journals

Diffuse alveolar hemorrhage following alemtuzumab.Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
This study describes an unusual patient with X-linked Alport syndrome (XLAS) in whom diffuse alveolar hemorrhage (DAH) developed as a complication of alemtuzumab therapy following renal transplantation. A 26-year-old man with XLAS underwent retransplantation with a cadaveric renal allograft. He received alemtuzumab therapy as a part of an immunosuppressive induction protocol, and dyspnea and hemoptysis developed. A chest CT scan showed diffuse alveolar opacities. Bronchoscopy was performed to determine the cause of hemoptysis and hypoxia. BAL showed a characteristic increasingly bloody return in the sequential aliquots. Th...
Source: Chest - June 1, 2008 Category: Respiratory Medicine Authors: Sachdeva A, Matuschak GM Tags: Chest Source Type: journals

[Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies.]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a simple procedure to use skin biopsies for the diagnosis of Alport syndrome. The technique is based on the codetection of alpha5 and alpha2 chains of collagen IV along the basal lamina of epidermis through an immunfluorescence technique. Eighty-five per cent of the cases of Alport syndrome are due to a mutation in the gene COL4A5, located on chromosome X, encoding the alpha5 chain of collagen IV. In this situation, the tissue expression of alpha5 chain is abnormal; in males, the absence of expression of alpha5 chain is pathognomonic for Alport syndrome; in females, the expression of alpha5 chain may be discont...
Source: Annales de Pathologie - June 1, 2008 Category: Pathology Authors: Patey-Mariaud de Serre N, Noël LH Tags: Ann Pathol Source Type: journals

[Collagen alpha5 and alpha2 (IV) chain coexpression: The procedure of choice to diagnose Alport syndrome from skin biopsies]Email this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
We describe a simple procedure to use skin biopsies for the diagnosis of Alport syndrome. The technique is based on the co-detection of alpha5 and alpha2 chains of collagen IV along the basal lamina of epidermis through an immunfluorescence technique. Eighty-five per cent of the cases of Alport syndrome are due to a mutation in the gene COL4A5, located on chromosome X, encoding the alpha5 chain of collagen IV. In this situation, the tissue expression of alpha5 chain is abnormal; in males, the absence of expression of alpha5 chain is pathognomonic for Alport syndrome; in females, the expression of alpha5 chain may be discon...
Source: Annales de Pathologie - June 1, 2008 Category: Pathology Authors: Patey-Mariaud de Serre N, Noël LH Tags: Ann Pathol Source Type: journals

Clear lens phacoemulsification in anterior lenticonus due to Alport Syndrome: two case reportsEmail this article to a colleague. Save this article to My Clippings. Discuss or comment on this article.
Conclusion: All four eyes of the two patients were in good condition after surgery and achieved satisfactory optical and visual results and had no remarkable complications at six-months follow-up. Clear lens phacoemulsification with foldable intraocular lens implantation can be used as an efficient and safe procedure for vision disorders in these patients. (Source: BioMed Central)
Source: BioMed Central - May 27, 2008 Category: Journals (General) Authors: Ghassem Amiraslanzadeh, Davood Gharabaghi and Niloofar Naderi Source Type: journals