Department of Medicine, Jacobi Medical Center, Bronx, NY.
Section on Nephrology, Wake Forest School of Medicine, Winston-Salem, NC.
Am J Kidney Dis. 2018 Apr;71(4):495-500. doi: 10.1053/j.ajkd.2017.08.024. Epub 2017 Dec 6.
Mucin 1 kidney disease, previously referred to as medullary cystic kidney disease type 1, is a rare hereditary kidney disease. It is one of several diseases now termed autosomal dominant tubulointerstitial kidney disease, as proposed by a KDIGO (Kidney Disease: Improving Global Outcomes) consensus report in 2014. Autosomal dominant tubulointerstitial kidney diseases share common clinical findings, such as autosomal dominant inheritance, bland urinary sediment, absent to mild proteinuria, and progressive loss of kidney function. Although the pathophysiology of mucin 1 kidney disease is still under investigation, genetic testing has been developed to detect the most well-known mutation, a single cytosine insertion into a string of 7 cytosines in the variable-number tandem repeat (VNTR) region of the MUC-1 gene. With this diagnostic tool, nephrologists can offer genetic counseling to affected families and monitor closely for progression of disease. We report a Hispanic patient with a strong family history of chronic kidney disease who tested positive for the MUC1 mutation.
Mucin 1 肾病，以前称为髓质囊性肾病 1 型，是一种罕见的遗传性肾病。它是 2014 年 KDIGO（肾脏病：改善全球预后）共识报告中提出的几种称为常染色体显性遗传性 tubulointerstitial 肾病之一。常染色体显性遗传性 tubulointerstitial 肾病具有共同的临床特征，如常染色体显性遗传、尿沉渣正常或轻微蛋白尿、以及进行性肾功能丧失。尽管 mucin 1 肾病的病理生理学仍在研究中，但已经开发出基因检测来检测最著名的突变，即在 MUC-1 基因的可变数串联重复（VNTR）区域中的 7 个胞嘧啶的单个胞嘧啶插入。有了这个诊断工具，肾病学家可以为受影响的家庭提供遗传咨询，并密切监测疾病的进展。我们报告了一名具有强烈家族遗传性慢性肾脏病病史的西班牙裔患者，该患者 MUC1 突变检测呈阳性。
