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]

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。

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