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Pediatr Nephrol. 2013 Aug;28(8):1183-93. doi: 10.1007/s00467-012-2399-y. Epub 2013 Jan 17.

How benign is hematuria? Using genetics to predict prognosis.

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University College London-Centre for Nephrology, Royal Free Hospital Pond Street, London, NW3 2QG, UK.


Hematuria is a common presenting feature of glomerular disease and is sometimes associated with kidney failure later in life. Where isolated microscopic hematuria occurs in children and young adults, an underlying monogenic disorder, such as Alport syndrome or thin basement membrane nephropathy, is frequently responsible. In this review, these and other diseases, which often present with isolated microscopic hematuria, including hereditary angiopathy, nephropathy, aneurysms, and muscle cramps (HANAC) syndrome, IgA nephropathy, and CFHR5 nephropathy, are discussed together with the associated molecular pathology, clinical features, and prognosis. Genetic testing for these conditions used in clinical practice can provide important diagnostic and prognostic information that is relevant to the patient and their family, particularly when kidney transplantation is considered.

[Indexed for MEDLINE]

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