Ocular immunology and inflammation · 2010
Tubulointerstitial nephritis and uveitis in siblings.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Biester Sabine, Müller Claudia, Deuter Christoph M E, Doycheva Deshka, Altpeter Elke, Zierhut Manfred
Аннотация
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.
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.
Предметные рубрики MeSH
Administration, TopicalAdolescentAllelesDrug Administration ScheduleFemaleGenetic LinkageGenetic Predisposition to DiseaseGlucocorticoidsHLA-DQ AntigensHLA-DR AntigensHLA-DRB1 ChainsHaplotypesHistocompatibility TestingHumansMaleNephritis, InterstitialParentsPhenotypePrednisoloneRetrospective StudiesSiblingsSyndromeUveitis, Anterior