Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions

J Pediatr. 1998 Sep;133(3):450-2. doi: 10.1016/s0022-3476(98)70286-0.

Abstract

Blau syndrome is a granulomatous disease of the skin, eyes, and joints, usually without visceral involvement. It is inherited in a autosomal dominant manner. The Blau susceptibility locus has been mapped to chromosome 16 p 12-q21. A recent report has added liver granulomata. We describe a family with Blau syndrome in whom 1 member had renal interstitial granulomata.

Publication types

  • Case Reports

MeSH terms

  • Acute Kidney Injury / etiology
  • Adult
  • Arthritis / genetics*
  • Child, Preschool
  • Chromosome Mapping
  • Chromosomes, Human, Pair 16 / genetics
  • Eye Diseases / genetics
  • Female
  • Genes, Dominant / genetics
  • Granulomatous Disease, Chronic / genetics*
  • Humans
  • Infant
  • Kidney Diseases / genetics*
  • Liver Diseases / genetics
  • Male
  • Phenotype
  • Skin Diseases / genetics
  • Syndrome