Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

doi:10.1681/ASN.2020111587

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Article

Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.

Journal of the American Society of Nephrology : JASN - 1 Jun 2021

Schlingmann Karl P, Renigunta Aparna, Hoorn Ewout J, Forst Anna-Lena, Renigunta Vijay, Atanasov Velko, Mahendran Sinthura, Barakat Tahsin Stefan, Gillion Valentine, Godefroid Nathalie, Brooks Alice S, Lugtenberg Dorien, Lake Jennifer, Debaix Huguette, Rudin Christoph, Knebelmann Bertrand, Tellier Stephanie, Rousset-Rouvière Caroline, Viering Daan, de Baaij Jeroen H F, Weber Stefanie, Palygin Oleg, Staruschenko Alexander, Kleta Robert, Houillier Pascal, Bockenhauer Detlef, Devuyst Olivier, Vargas-Poussou Rosa, Warth Richard, Zdebik Anselm A, Konrad Martin

Abstract excerpt

BACKGROUND: The transepithelial transport of electrolytes, solutes, and water in the kidney is a well-orchestrated process involving numerous membrane transport systems. Basolateral potassium channels in tubular cells not only mediate potassium recycling for proper Na+,K+-ATPase function but are also involved in potassium and pH sensing. Genetic defects in KCNJ10 cause EAST/SeSAME syndrome, characterized by renal...

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PMID: 33811157
DOI: 10.1681/ASN.2020111587
PMCID: PMC8259640

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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