کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8769802 | 1598214 | 2018 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Autosomal Dominant Tubulointerstitial Kidney Disease Due to MUC1 Mutation
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
بیماریهای کلیوی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: American Journal of Kidney Diseases - Volume 71, Issue 4, April 2018, Pages 495-500
Journal: American Journal of Kidney Diseases - Volume 71, Issue 4, April 2018, Pages 495-500
نویسندگان
Samuel Mon-Wei Yu, Anthony J. Bleyer, Kisra Anis, Leal Herlitz, Martina Živná, Helena Hůlková, Glen S. Markowitz, Belinda Jim,