Child abuse in medical setting presenting as gross hematuria: diagnosis by DNA short tandem repeats

Pediatrics. 2012 Jul;130(1):e224-9. doi: 10.1542/peds.2011-3271. Epub 2012 Jun 25.

Abstract

Two sisters, aged 15 and 13 years, had previous epithelioid angiomyolipoma of the kidney and suspected thin basement membrane disease, respectively. They presented with 2 years of gross hematuria and new-onset heavy proteinuria. Extensive investigations failed to find an overt cause of their urinary manifestations. The diagnosis of child abuse in a medical setting was confirmed by DNA short tandem repeats analysis, which are the first documented cases in which factitious hematuria was thus diagnosed. Complex forms of child abuse in a medical setting may require forensic tests such as DNA short tandem repeats analysis for diagnosis.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Female
  • Hematuria / etiology*
  • Humans
  • Microsatellite Repeats*
  • Munchausen Syndrome by Proxy / diagnosis*
  • Sequence Analysis, DNA*