Abstract
Hematuria is a common presenting complaint in pediatric nephrology clinics and often has a familial basis. This teaching article provides an overview of causes, diagnosis, and management of the major forms of familial hematuria, Alport syndrome, and thin basement membrane nephropathy.
Highlights
The typical pediatric nephrologist will evaluate hundreds, if not thousands, of children and adolescents with hematuria during the course of her or his career
The major forms of familial hematuria, Alport syndrome and thin basement membrane nephropathy (TBMN), together account for approximately 30–50% of children with isolated glomerular hematuria referred to pediatric nephrology clinics for consultation [1,2,3,4]
About 80% of those with Alport syndrome have the X-linked form of the disease (XLAS), which is caused by mutations in COL4A5, the gene encoding the α5 chain of type IV collagen [α5 (IV)]
Summary
The typical pediatric nephrologist will evaluate hundreds, if not thousands, of children and adolescents with hematuria during the course of her or his career. The major forms of familial hematuria, Alport syndrome and thin basement membrane nephropathy (TBMN), together account for approximately 30–50% of children with isolated glomerular hematuria referred to pediatric nephrology clinics for consultation [1,2,3,4]. The objectives of this teaching article are to (1) assist pediatric nephrologists in recognizing patients who may have familial forms of hematuria, (2) suggest diagnostic approaches that can be used to confirm familial hematuria and make specific diagnoses, and (3) discuss the implications of a diagnosis of familial hematuria for prognosis, reproductive counseling, and treatment
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