How benign is hematuria? Using genetics to predict prognosis

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


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Adult
  • Biopsy
  • Female
  • Genetic Diseases, Inborn / complications
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / therapy
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Hematuria / diagnosis
  • Hematuria / genetics*
  • Hematuria / therapy
  • Humans
  • Kidney Transplantation / adverse effects
  • Male
  • Phenotype
  • Predictive Value of Tests
  • Prognosis
  • Risk Assessment
  • Risk Factors
  • Tissue Donors
  • Urogenital Abnormalities / complications
  • Urogenital Abnormalities / diagnosis
  • Urogenital Abnormalities / genetics*
  • Urogenital Abnormalities / therapy

Supplementary concepts

  • Hematuria, Benign Familial