Tubulointerstitial nephritis and uveitis in siblings.
OBJECTIVE
To report on the occurrence of tubulointerstitial nephritis and uveitis (TINU) and HLA typing in two siblings.


METHODS
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.
Biester
Sabine
S
Centre for Ophthalmology, University Tuebingen, Schleichstrasse 12, Tuebingen, Germany.
Müller
Claudia
C
Deuter
Christoph M E
CM
Doycheva
Deshka
D
Altpeter
Elke
E
Zierhut
Manfred
M
D000287:Administration, Topical; D000293:Adolescent; D000483:Alleles; D004334:Drug Administration Schedule; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D005938:Glucocorticoids / Q000008:administration & dosage; D006683:HLA-DQ Antigens / Q000235:genetics; D006684:HLA-DR Antigens / Q000235:genetics; D059811:HLA-DRB1 Chains; D006239:Haplotypes; D006650:Histocompatibility Testing; D006801:Humans; D008297:Male; D009395:Nephritis, Interstitial / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology*; D010290:Parents; D010641:Phenotype; D011239:Prednisolone / Q000008:administration & dosage; D012189:Retrospective Studies; D035781:Siblings; D013577:Syndrome; D014606:Uveitis, Anterior / Q000235:genetics*
D005938:Glucocorticoids; D006683:HLA-DQ Antigens; D006684:HLA-DR Antigens; D059811:HLA-DRB1 Chains; D011239:Prednisolone