常染色体显性遗传肾小管间质肾病(autosomal dominant tubulointerstitial kidney disease,ADTKD)。以往常被称为髓质囊性肾病(medullary cystic kidney disease,MCKD),是一种非常罕见的常染色体显性遗传性肾病“,目前尚无其发病率的报道,在国内存在少数该疾病报道。目前发现4种基因突变可引起该病:UMOD、REN、HNFIB及MUC1...
其临床突出点就是高尿酸血症,儿童早发痛风。 常染色体显性肾小管间质性肾病 (autosomal dominant tubulointerstitial kidney disease, ADTKD)是一组以肾功能进行性下降为特征的罕见常染色体显性遗传疾病。 它涉及多个基因,因此目前多以病变基因作为进一步的细分类基础。 1、尿调素相关...
常染色体显性遗传性小管间质肾病(Autosomal dominant tubulointerstitial kidney disease,ADTKD)是一类表现为常染色体显性遗传的慢性肾小管间质疾病。2015 年改善全球肾脏病预后组织(KDIGO)发表了 ADTKD 诊断、分类和管理的专家共识,明确此病为单基因突变所致的遗传性...
3.Devuyst, O. et al. Nat Rev Dis Primers 5, 60 (2019) 4.Olinger E, et al. Kidney Int. 2020;98(3):717-731. 5.Nephrol Dial Transplant (2023) 38: 271–282 6.Diagnostic Pathology of Kidney Disease. 3rd Edition 7.Nat Rev Dis Primers, 2019, 5(1):60. 8.ADTKD KDIGO consensus...
Autosomal Dominant Tubulointerstitial kidney disease (ADTKD) is a rare disease (16 per million), associated with CV events, hypertension, and gout. ADTKD is characterized by interstitial fibrosis, tubular atrophy, microcysts, and progressive CKD. We describe a case of a family with clinical ...
The case underscores the clinical importance of a gene-based unifying terminology help to identify under-recognized causes of CKD, and it demonstrates the value of whole-exome sequencing in unsolved CKD.Keywords: ADTKD; UMOD; case report; de novo mutation; genetic kidney disease....
常染色体显性遗传性肾小管间质性肾病(autosomaldominanttubulointerstitialkidneydisease,ADTKD)是一类具有遗传倾向和家族聚集性的间质性肾病。这类肾病患者最终进入终末期肾病(简称ESRD),给个人、家庭和社会带来了沉重的负担。 2015年改善全球肾病预后组织(简称KDIGO)对常染色体显性小管间质性肾病的重新命名、临床表现、肾脏...
There are 3 major forms of autosomal dominant tubulointerstitial kidney disease (ADTKD): ADTKD due to UMOD mutations, MUC1 mutations, and mutations in the REN gene encoding renin. Lack of knowledge about these conditions contributes to f... AJ Bleyer,K Kidd,?ivná, Martina,... - 《Advance...
Interstitial diseaseWe reported a large Chinese family diagnosed with autosomal dominant tubulointerstitial kidney disease caused bymutation (ADTKD-). Cytosine duplication within a string of 7 cytosines in the variable-number tandem repeats (VNTR) region of thegene was detected by long-read single-...
常染色体显性遗传性小管间质肾病(Autosomal dominant tubulointerstitial kidney disease,ADTKD)是一类表现为常染色体显性遗传的慢性肾小管间质疾病。2015 年改善全球肾脏病预后组织(KDIGO)发表了 ADTKD 诊断、分类和管理的专家共识,明确此病为单基因突变所致的遗传性疾病。延伸阅读: KDIGO 常染色体显性小管间质性肾病诊断...