"preliminary report: evidence of autosomal recessive form of alport syndrome in iran "
نویسندگان
چکیده
alport syndrome is a progressive hereditary nephritis leading to renal failure. nearly all of the documents declare that alport syndrome is inherited as x-linked dominant trait and reports of autosomal inheritance form is very rare. this paper presents an iranian large alport family with autosomal recessive inheritance. in our patients alport disease was confirmed with electron microscopic studies of renal biopsies.
منابع مشابه
COL4A6 is dispensable for autosomal recessive Alport syndrome
Alport syndrome is caused by mutations in the genes encoding α3, α4, or α5 (IV) chains. Unlike X-linked Alport mice, α5 and α6 (IV) chains are detected in the glomerular basement membrane of autosomal recessive Alport mice, however, the significance of this finding remains to be investigated. We therefore generated mice lacking both α3 and α6 (IV) chains and compared their renal function and su...
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چکیده ندارد.
Early RAAS Blockade Exerts Renoprotective Effects in Autosomal Recessive Alport Syndrome.
Alport syndrome is a progressive renal disease caused by mutations in COL4A3, COL4A4, and COL4A5 genes that encode collagen type IV alpha 3, alpha 4, and alpha 5 chains, respectively. Because of abnormal collagen chain, glomerular basement membrane becomes fragile and most of the patients progress to end-stage renal disease in early adulthood. COL4A5 mutation causes X-linked form of Alport synd...
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عنوان ژورنال:
iranian journal of public healthجلد ۲۲، شماره ۱-۴، صفحات ۵۱-۵۶
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