Bull terrier hereditary nephritis: A model for autosomal dominant Alport syndrome
نویسندگان
چکیده
منابع مشابه
Correlation of histopathological features and renal impairment in autosomal dominant Alport syndrome in Bull terriers.
BACKGROUND Bull terrier hereditary nephritis represents a model for autosomal dominant Alport syndrome, as affected dogs have the characteristically lamellated glomerular basement membrane and demonstrate vertical male-to-male disease transmission. METHODS This study compared the histopathological features in kidneys from affected Bull terrier neonates, puppies, and adult dogs with normal or ...
متن کاملA novel model of autosomal dominant Alport syndrome in Dalmatian dogs.
BACKGROUND Autosomal dominant Alport syndrome is a rare inherited disease characterized clinically by haematuria, renal failure and deafness, and ultrastructurally by a lamellated glomerular basement membrane (GBM). It is usually caused by mutations in the COL4A3 or COL4A4 genes which code for the alpha3 and alpha4 chains of type IV collagen. We describe here a novel spontaneous model of autoso...
متن کاملCyclosporine a slows the progressive renal disease of alport syndrome (X-linked hereditary nephritis): results from a canine model.
Alport syndrome refers to a hereditary disorder characterized by progressive renal disease and a multilaminar appearance to the glomerular basement membrane (GBM). In a small group of patients with Alport syndrome, cyclosporine A was reported to decrease proteinuria and maintain stable renal function over 7 to 10 yr of follow-up. The present study examined the effect of cyclosporine A on GBM st...
متن کاملStudy of the True Clinical Progression of Autosomal Dominant Alport Syndrome in a European Population.
BACKGROUND/AIMS Autosomal dominant Alport syndrome represents 5% of all Alport syndrome cases. This entity presents a different clinical expression from the recessive inheritance pattern and the X chromosome-linked pattern, because it is mild and it shows a late onset, which in many cases even goes unnoticed. METHODS We carried out a descriptive observational and retrospective clinical study ...
متن کاملCOL4A4 gene study of a European population: description of new mutations causing autosomal dominant Alport syndrome.
BACKGROUND Autosomal forms of Alport syndrome represent 20% of all patients (15% recessive and 5% dominant). They are caused by mutations in the COL4A3 and COL4A4 genes, which encode a-3 and a-4 collagen IV chains of the glomerular basement membrane, cochlea and eye. Thin basement membrane nephropathy may affect up to 1% of the population. The pattern of inheritance in the 40% of cases is the s...
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ژورنال
عنوان ژورنال: Kidney International
سال: 1995
ISSN: 0085-2538
DOI: 10.1038/ki.1995.116