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GENATLAS PHENOTYPE

last update : 05-01-2010

Symbol	FBH
Location	2q36.3
Name	familial "benign" hematuria
Other name(s)	thin- basement membrane nephropathy
Corresponding gene	COL4A3 , COL4A4
Other symbol(s)	TBMD,TMN
Main clinical features	microscopic hematuria and classically thought to cause proteinuria and chronic renal failure rarely
Genetic determination	autosomal dominant
Function/system disorder	kidney and urinary tract
Type	disease

Remark(s)

familial nephritis and familial 'benign' hematuria may be one disorder, or at least 'a spectrum of inherited abnormality or abnormalities in the formation of the glomerular capillary basement membrane' particular COL4A3/COL4A4 mutations either predispose some patients to focal segmental glomerulosclerosis (FSGS)and chronic renal failure, or that thin basement membrane nephropathy sometimes coexists with another genetic modifier that is responsible for FSGS and progressive renal failure (Voskarides 2007)