Isolated microscopic haematuria of glomerular origin: clinical significance and diagnosis in the 21st century

Isolated microscopic, or non-visible, haematuria of glomerular origin was previously regarded a benign finding, but it is now known that, even in the absence of proteinuria, hypertension or renal impairment at presentation, haematuria is associated with increased risk of kidney failure in the long term. The most common causes of isolated microscopic haematuria among children and young adults are IgA nephropathy, Alport syndrome (AS), and thin basement membrane nephropathy (TBMN). AS, which is usually inherited as an X-linked or autosomal recessive trait, and TBMN, which is usually autosomal dominant, are caused by mutations in the genes encoding type-IV collagen, an abundant component of the glomerular basement membrane. A detailed family history with screening of at-risk relatives is important, allowing prompt diagnosis of affected relatives and helping determine the mode of transmission. As costs fall and availability increases, genetic testing is increasingly being used in clinical practice to provide diagnostic and predictive information for patients and their families.