Recurrent UMOD Mutations in Australian Families with Autosomal Dominant Tubulointerstitial Kidney Disease- A Possible Founder Effect?

Kewei Zhang
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Kewei Zhang: Department of Medicine, Austin and Northern Health, the University of Melbourne, Heidelberg, Victoria, Australia

Biomedical Journal of Scientific & Technical Research, 2023, vol. 51, issue 3, 42688-42695

Abstract: Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare cause of end-stage renal failure (ESRF), mutations of which primarily affect UMOD (ADTKD-UMOD) gene. Over 120 mutations have been identified and the majority are clustered in UMOD exons 3 and 4. Some mutations have been found with high frequency in families outside Australasia; however, diagnosis of mutations in Australian families with ADTKD is uncommon. The aim of this study was to examine mutations in UMOD in five Australian families with ADTKD and compare with literatures.

Keywords: Journals on Medical Drug and Therapeutics; Journals on Emergency Medicine; Physical Medicine and Rehabilitation; Journals on Infectious Diseases Addiction Science and Clinical Pathology; Open Access Clinical and Medical Journal; Journals on Biomedical Science; List of Open Access Medical Journal; Journals on Biomedical Engineering; Open Access Medical Journal; Biomedical Science Articles; Journal of Scientific and Technical Research (search for similar items in EconPapers)
Date: 2023
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Persistent link: https://EconPapers.repec.org/RePEc:abf:journl:v:51:y:2023:i:3:p:42688-42695

DOI: 10.26717/BJSTR.2023.51.008100

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