Membranous nephropathy in Schimke immuno-osseous dysplasia

Pediatr Nephrol. 2006 Jun;21(6):870-2. doi: 10.1007/s00467-006-0082-x. Epub 2006 Mar 29.

Abstract

Schimke immuno-osseous dysplasia is a rare autosomal recessive multi-system disorder, with clinical features of growth retardation, spondylo-epiphyseal dysplasia, nephrotic syndrome and immunodeficiency beginning in childhood. Here, we report a new case, in a 10-year-old boy with characteristic symptoms of Schimke immuno-osseous dysplasia. The patient presented with short stature and, later, developed nephrotic syndrome and peritonitis. In addition, he had perinuclear anti-neutrophilic cytoplasmic antibody (p-ANCA)-positive arthritis. Renal pathology of the patients with this disease usually show focal segmental glomerulonephritis, whereas our patient had membranous nephropathy, which has not previously been reported.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Child
  • Face / abnormalities
  • Glomerulonephritis, Membranous / diagnosis*
  • Glomerulonephritis, Membranous / pathology
  • Growth Disorders / diagnosis*
  • Humans
  • Immunologic Deficiency Syndromes / diagnosis*
  • Male
  • Osteochondrodysplasias / diagnosis*
  • Syndrome