Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia.


YAVUZ S., BAYAZIT A. , Anarat A. , GÖNLÜŞEN G. , ALSANCAK P.

Pediatrics international : official journal of the Japan Pediatric Society, vol.57, no.2, pp.310-3, 2015 (Journal Indexed in SCI Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 57 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.1111/ped.12455
  • Title of Journal : Pediatrics international : official journal of the Japan Pediatric Society
  • Page Numbers: pp.310-3

Abstract

Schimke immuno-osseous dysplasia (SIOD) is a rare hereditary disease characterized by skeletal dysplasia, immune deficiency and progressive renal disease. Kidney involvement mainly determines the prognosis. The most common renal pathology is focal segmental glomerulosclerosis (FSGS). Medullary nephrocalcinosis refers to the diffuse deposition of calcium salts in renal medulla and has not previously been identified in SIOD. Here we report the first case of a pediatric patient having typical features of SIOD with medullary nephrocalcinosis.