Abstract
Q1 What is ADPKD?
Autosomal dominant polycystic kidney disease is a relatively common (prevalence 1 in 1,000) and important cause of CKD. Eighty-five percent of cases are caused by mutations of the PKD1 gene with the remaining 15 % of cases due to mutations of the PKD2 gene. These mutations cause defective cell signalling which leads to cyst formation. Small cysts develop in childhood but may not be detectable until early adult life.
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Further Reading
Torres VE, et al. Autosomal dominant polycystic kidney disease. Lancet. 2007;369:1287–301.
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© 2015 Springer International Publishing Switzerland
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Findlay, M., Isles, C. (2015). Polycystic Kidney Disease. In: Clinical Companion in Nephrology. Springer, Cham. https://doi.org/10.1007/978-3-319-14868-7_26
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DOI: https://doi.org/10.1007/978-3-319-14868-7_26
Publisher Name: Springer, Cham
Print ISBN: 978-3-319-14867-0
Online ISBN: 978-3-319-14868-7
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