title: Medullary nephrocalcinosis in Schimke immuno-osseous dysplasia.
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.
authors: Division of Pediatric Nephrology, Cukurova University Hospital, Adana, Turkey.
authors: Sevgi
authors: S
authors: Yavuz
authors: Aysun Karabay
authors: AK
authors: Bayazıt
authors: Ali
authors: A
authors: Anarat
authors: Gulfiliz
authors: G
authors: Gonlusen
authors: Perihan
authors: P
authors: Alsancak
mesh_terms: D000959:Antihypertensive Agents / Q000627:therapeutic use; D001161:Arteriosclerosis / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D002648:Child; D005260:Female; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D007668:Kidney / Q000473:pathology*; D009397:Nephrocalcinosis / Q000150:complications*; D009404:Nephrotic Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D010009:Osteochondrodysplasias / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D000081207:Primary Immunodeficiency Diseases; D011379:Prognosis; D011655:Pulmonary Embolism / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy
chemical_list: D000959:Antihypertensive Agents
keywords: focal segmental glomerulosclerosis; immune deficiency; medullary nephrocalcinosis; proteinuria; skeletal dysplasia