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.

KEYWORDS::

• HLA typing
• nephritis
• TINU syndrome
• uveitis

Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.