A rare case of nephrotic syndrome: 'nailed' the diagnosis

J Postgrad Med. 2014 Apr-Jun;60(2):179-82. doi: 10.4103/0022-3859.132335.

Abstract

An 18-month-old female child presented to us with clinical features suggestive of nephrotic syndrome. Her physical examination and detailed family history highlighted the familial occurrence of abnormal nails, suggesting a diagnosis of the Nail-Patella syndrome. Nail-Patella syndrome is a rare cause of nephrotic syndrome in children. This case highlights the importance of a detailed history, including pedigree and a thorough examination of the patient.

Publication types

  • Case Reports

MeSH terms

  • Fatal Outcome
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Infant
  • Nail-Patella Syndrome / complications
  • Nail-Patella Syndrome / diagnostic imaging*
  • Nail-Patella Syndrome / genetics
  • Nephrotic Syndrome / etiology*
  • Pedigree
  • Proteinuria / etiology
  • Radiography