Familial granulomatous arthritis (Blau syndrome) with granulomatous renal lesions.
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.
Ting
S S
SS
Department of Immunology/Allergy, Sydney Children's Hospital, Nepean Hospital, NSW, Australia.
Ziegler
J
J
Fischer
E
E
D058186:Acute Kidney Injury / Q000209:etiology; D000328:Adult; D001168:Arthritis / Q000235:genetics*; D002675:Child, Preschool; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D006105:Granulomatous Disease, Chronic / Q000235:genetics*; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000235:genetics*; D008107:Liver Diseases / Q000235:genetics; D008297:Male; D010641:Phenotype; D012871:Skin Diseases / Q000235:genetics; D013577:Syndrome