Tubulointerstitial nephritis and uveitis in siblings.

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.