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Inherited Tubulopathies of the Kidney: Insights from Genetics

Downie, ML; Lopez Garcia, SC; Kleta, R; Bockenhauer, D; (2020) Inherited Tubulopathies of the Kidney: Insights from Genetics. Clinical Journal of the American Society of Nephrology (CJASN) 10.2215/CJN.14481119. Green open access

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Abstract

The kidney tubules provide homeostasis by maintaining the external milieu that is critical for proper cellular function. Without homeostasis, there would be no heartbeat, no muscle movement, no thought, sensation, or emotion. The task is achieved by an orchestra of proteins, directly or indirectly involved in the tubular transport of water and solutes. Inherited tubulopathies are characterized by impaired function of one or more of these specific transport molecules. The clinical consequences can range from isolated alterations in the concentration of specific solutes in blood or urine to serious and life-threatening disorders of homeostasis. In this review, we will focus on genetic aspects of the tubulopathies and how genetic investigations and kidney physiology have crossfertilized each other and facilitated the identification of these disorders and their molecular basis. In turn, clinical investigations of genetically defined patients have shaped our understanding of kidney physiology.

Type: Article
Title: Inherited Tubulopathies of the Kidney: Insights from Genetics
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.2215/CJN.14481119
Publisher version: https://doi.org/10.2215/CJN.14481119
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Bartter-s syndrome, Emotions, Genomics, Homeostasis, Kidney, Kidney Tubules, Sensation, Series, Urinary Tract Physiological Phenomena, Water, kidney, kidney tubule, magnesium wasting disorders, nephrogenic diabetes insipidus, renal tubular acidosis, tubulopathies
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Medicine > Renal Medicine
URI: https://discovery.ucl.ac.uk/id/eprint/10095353
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