منابع مشابه
Type VII collagen in Alport syndrome.
BACKGROUND Absence or segmental distribution of the alpha5(IV) collagen chain along the epidermal basement membrane (EBM) is diagnostic of X-linked Alport syndrome (X-AS), but the typical morphologic alterations usually observed along the glomerular basement membrane (GBM) are lacking. However, several differences in protein composition exist between GBM and EBM, and such differences could acco...
متن کاملStructure of the human type IV collagen gene COL4A3 and mutations in autosomal Alport syndrome.
Mutations in either the COL4A3 or the COL4A4 genes, encoding the alpha3 and alpha4 chains of type IV collagen, are responsible for the autosomal-recessive form of Alport syndrome, a progressive hematuric nephropathy characterized by glomerular basement membrane abnormalities. Reported here are the complete COL4A3 exon-intron structure and a comprehensive screen for mutations of the 52 COL4A3 ex...
متن کاملDistribution of type IV collagen in the cochlea in Alport syndrome.
OBJECTIVE To determine the distribution of alpha1, alpha3, and alpha5 chains of type IV collagen in the cochlea in Alport syndrome. DESIGN Case-control study. PATIENTS Two patients with sensorineural hearing loss due to Alport syndrome. Both patients had known mutations in the COL4A5 gene. MAIN OUTCOME MEASURES Immunostaining was used to study the distribution of type IV collagen (alpha1,...
متن کاملMolecular testing for adult type Alport syndrome
BACKGROUND Alport syndrome (AS) is a progressive renal disease with cochlear and ocular involvement. The majority of AS cases are X-linked (XLAS) and due to mutations in the COL4A5 gene. Although the disease may appear early in life and progress to end stage renal disease (ESRD) in young adults, in other families ESRD occurs in middle age. Few of the more than four hundred mutations described i...
متن کاملAlport Syndrome
A.K. was a 5-year-old boy who presented to the pediatric nephrology clinic with a recent finding of microscopic hematuria and proteinuria on routine screening. The analysis was repeated two weeks later with persistence of hematuria and proteinuria. A complete blood count (CBC) and a metabolic panel (Chem7) were both normal. Renal ultrasound was performed which was also normal and without hydron...
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ژورنال
عنوان ژورنال: Nephrology Dialysis Transplantation
سال: 2007
ISSN: 0931-0509,1460-2385
DOI: 10.1093/ndt/gfm481