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, cilt.57, sa.2, ss.310-3, 2015 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 57 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1111/ped.12455
  • Dergi Adı: Pediatrics international : official journal of the Japan Pediatric Society
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.310-3
  • Anahtar Kelimeler: focal segmental glomerulosclerosis, immune deficiency, medullary nephrocalcinosis, proteinuria, skeletal dysplasia, FOCAL SEGMENTAL GLOMERULOSCLEROSIS
  • Çukurova Üniversitesi Adresli: Evet

Özet

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.