由UMOD 突变 (ADTKD-UMOD) 引起的常染色体显性肾小管间质性肾病是一种罕见的疾病,与终末期肾病 (ESKD) 年龄的高度变异性相关。常染色体显性遗传是一般规律,但也有新发 UMOD 突变的报道。据报道,ESKD 的中位年龄为 47 岁(18-87 岁),男性进展为 ESKD 的风险要高得多。在这里,我们报告了一名患有不明原因慢性...
Mutations in theUMODgene, encoding uromodulin, lead to ADTKD-UMODrelated. Uromodulin is a GPI-a... M Trudu,C Schaeffer,M Riba,... - 《Scientific Reports》 被引量: 2发表: 2017年 A novel uromodulin mutation in autosomal dominant tubulointerstitial kidney disease: a pedigree-based study ...
Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) with UMOD Gene Mutation as a Rare Cause of CKD in a Young Patient with Family History of ESRDdoi:10.1681/ASN.20213210S1816bSaira SajidKaterina HysiNaveed N. MasaniJames Drakakis
Autosomal Dominant Tubulointerstitial Kidney Disease due to Uromodulin Mutation (ADTKD-UMOD)doi:10.1681/ASN.20233411S11112aAarzoo GuptaAnuroop YekulaSusant O. GurungAshish VermaAmerican Society of NephrologyJournal of the American Society of Nephrology...
Treatment of Autosomal Dominant Tubulointerstitial Kidney Disease Uromodulin (ADTKD-UMOD) with Antisense Oligonucleotidesdoi:10.1681/ASN.20246r6swp0yKathy Ye MorganNino JungelsChristopher GreerStephanie GarciaEmily G. ThompsonTushare JinadasaXuyu Tan