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How benign is hematuria? Using genetics to predict prognosis

Abstract

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.

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Acknowledgments

The author would like to thank Dr. Detlef Bockenhauer and Dr. Paul Bass for helpful discussions. DPG is supported by an MRC Clinician Scientist Fellowship and has also received funding from the Rosetrees Trust.

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Correspondence to Daniel P. Gale.

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Gale, D.P. How benign is hematuria? Using genetics to predict prognosis. Pediatr Nephrol 28, 1183–1193 (2013). https://doi.org/10.1007/s00467-012-2399-y

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Keywords

  • TBMN
  • Glomerular basement membrane
  • Alport
  • HANAC
  • CFHR5
  • MYH9
  • Glomerulonephritis