Membranous nephropathy in Schimke immuno-osseous dysplasia

Ozdemir N., Alpay H., BEREKET A., Bereket G., Biyikli N., Aydogan M., ...More

PEDIATRIC NEPHROLOGY, vol.21, no.6, pp.870-872, 2006 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 21 Issue: 6
  • Publication Date: 2006
  • Doi Number: 10.1007/s00467-006-0082-x
  • Journal Name: PEDIATRIC NEPHROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.870-872
  • Keywords: Schimke immuno-osseous dysplasia, membranous nephropathy, spondylo-epiphyseal dysplasia, nephrotic syndrome, growth failure, NEPHROTIC SYNDROME, SPONDYLOEPIPHYSEAL DYSPLASIA, DISEASE
  • Istanbul University Affiliated: No

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.