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Published on: December 17, 2021
Tubulointerstitial nephritis and uveitis in siblings
Sabine Biester1, Claudia Müller, Christoph M E Deuter
1Centre for Ophthalmology, University Tuebingen, Schleichstrasse 12, Tuebingen, Germany.
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.
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