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.
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