Tubulointerstitial nephritis and uveitis in siblings.

ABSTRACT

PURPOSE: To report on the occurrence of tubulointerstitial nephritis and uveitis (TINU) and HLA typing in two siblings. DESIGN: Retrospective case study. METHODS: HLA typing from two siblings with TINU syndrome and their parents was performed on DNA from peripheral blood mononuclear cells (PBMC). RESULTS: The boy developed TINU syndrome in 2001, his sister 5 years later. Both siblings inherited the HLA alleles HLA-DRB1*1401 and HLA-DQB1*0503 on the maternal haplotype, a haplotype that had rarely been observed in patients with TINU. CONCLUSIONS: The observations support inheritance of HLA-linked risk factors of TINU, but indicate heterogeneity of the risk phenotype due to linkage with different reported haplotypes.