Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations
Phenotype and Outcome in Hereditary Tubulointerstitial Nephritis Secondary to UMOD Mutations
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DOI：
10.2215/cjn.01220211
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发表时间：
2011-10-01
影响因子：
9.8
通讯作者：
Knebelmann, Bertrand
中科院分区：
文献类型：
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作者：
Bollee, Guillaume;Dahan, Karin;Knebelmann, Bertrand
背景UMOD突变导致家族性幼年型高尿酸血症肾病(FJHN)和延髓囊性肾病(MCKD)，尽管这些表型是非特异性的。设计、背景、参与者和测量我们回顾了在法国巴黎Necker医院和比利时布鲁塞尔天主教大学基因实验室诊断的UMOD突变病例。我们还分析了MCKD/FJHN但没有UMOD突变的患者。为了根据肾小球滤过率确定高尿酸血症和尿酸排泄分数(UAEF)的阈值，对1097例不同肾脏疾病和肾功能水平患者的尿酸排泄分数(UAEF)进行了分析。结果在45个家系109例患者中发现37个明显的UMOD突变，除3个新的外显子8突变外，其余均为外显子4或5，中位肾脏存活时间为54年。突变类型对肾脏存活率的影响不大，家族内变异性很高。70例患者的详细资料显示，大多数患者中24例(34.3%)为非特异性定位的肾囊肿。42例未接受透析或别嘌醇治疗的患者中，31例(71.4%)尿毒症排在第75个百分位数。UAEF(n=27)为
Background UMOD mutations cause familial juvenile hyperuricemic nephropathy (FJHN) and medullary cystic kidney disease (MCKD), although these phenotypes are nonspecific.Design, setting, participants, & measurements We reviewed cases of UMOD mutations diagnosed in the genetic laboratories of Necker Hospital (Paris, France) and of Universite Catholique de Louvain (Brussels, Belgium). We also analyzed patients with MCKD/FJHN but no UMOD mutation. To determine thresholds for hyperuricemia and uric-acid excretion fraction (UAEF) according to GFR, these parameters were analyzed in 1097 patients with various renal diseases and renal function levels.Results Thirty-seven distinct UMOD mutations were found in 109 patients from 45 families, all in exon 4 or 5 except for three novel mutations in exon 8. Median renal survival was 54 years. The type of mutation had a modest effect on renal survival, and intrafamilial variability was high. Detailed data available in 70 patients showed renal cysts in 24 (34.3%) of nonspecific localization in most patients. Uricemia was >75th percentile in 31 (71.4%) of 42 patients not under dialysis or allopurinol therapy. UAEF (n = 27) was