A new missense mutation in UMOD gene leads to severely reduced serum uromodulin concentrations — A tool for the diagnosis of uromodulin-associated kidney disease

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• 作者：Robin Satanovskij^a ; ^c ; Alhaddad Bader^c ; ^d ; Matthias Block^b ; Victor Herbst^b ; Wolfgang Schlumberger^b ; Tobias Haack^c ; ^d ; Wolfgang Andreas Nockher^e ; Uwe Heemann^a ; Lutz Renders^a ; Christoph Schmaderer^a ; Susanne Angermann^a ; Ming Wen^a ; Thomas Meitinger^c ; ^d ; Jü ; rgen Scherberich^f ; ¹ ; Dominik Steubl^a ; ¹ ; ^{dominik.steubl@lrz.tum.de}
• 关键词：Biomarker ; Chronic kidney disease ; eGFR ; Proteinuria ; Tamm-Horsfall protein ; Uromodulin ; Tubulointerstitial disease ; ADTKD-UMOD ; UAKD ; FJHN
• 刊名：Clinical Biochemistry
• 出版年：2017
• 出版时间：February 2017
• 年：2017
• 卷：50
• 期：3
• 页码：155-158
• 全文大小：283 K
• 卷排序：50

文摘

Serum Uromodulin is a promising biomarker for tubular kidney function. ADTKD-UMOD is a rare hereditary disease with mutations in the gene coding for uromodulin. Uromodulin mutations impede intracellular trafficking leading to accumulation in the endoplasmic reticulum of tubular cells. We show that in ADTKD-UMOD patients serum uromodulin is decreased relative to the expected value for corresponding eGFR. Serum uromodulin could be used as a diagnostic tool to identify patients with suspected ADTKD-UMOD.