Benign familial hematuria

Definition:

Benign familial hematuria is an autosomal dominant disorder characterized by recurrent dysmorphic hematuria detected in childhood. The glomerular basement membrane is uniformly thin, but renal function is normal. Heterozygous mutations in COL4A3 or COL4A4 lead to reduced collagen network levels in the basement membrane.

References:

[1]. Clifford E Kashtan, et al. Genetic disorders of glomerular basement membranes. Nephron Clin Pract. 2011;118(1):c9-c18. [Content Brief]

[2]. Judy Savige, et al. Thin basement membrane nephropathy. Kidney Int. 2003 Oct;64(4):1169-78. [Content Brief]

[3]. Marie Claire Gubler, et al. Inherited diseases of the glomerular basement membrane. Nat Clin Pract Nephrol. 2008 Jan;4(1):24-37. [Content Brief]

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