biostudies-literatureSchlingmann KPBLRD VASwiss National Science FoundationUKGM ForschungsfoerderungDeutsche ForschungsgemeinschaftNational Heart, Lung, and Blood InstituteNHLBI NIH HHSUniversity Research Priority Program (UFSP) ITINERARENational Centre of Competence in ResearchEuropean Reference Network for Rare Kidney DiseasesNational Institutes of Health1498-1512https://www.ebi.ac.uk/biostudies/studies/S-EPMC8259640biostudies-literatureUnknown32(6)<h4>Background</h4>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 <i>KCNJ10</i> cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness.<h4>Methods</h4>A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeoJournal of the American Society of Nephrology : JASNDefects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.PMC8259640189044R35 HL135749I01 BX004024387509280 SFB 1350310030310030_18904421/2015MRDevuyst OGillion VKnebelmann BRenigunta AVargas-Poussou RMahendran SBarakat TSLugtenberg DBockenhauer DStaruschenko ABrooks ASZdebik AAHouillier PRenigunta Vde Baaij JHFDebaix HLake JKleta RHoorn EJGodefroid NSchlingmann KPKonrad MWarth RRudin CPalygin OTellier SViering DRousset-Rouviere CWeber SForst ALAtanasov VfalseDefects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.<h4>Background</h4>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 <i>KCNJ10</i> cause EAST/SeSAME syndrome, characterized by renal salt wasting with hypokalemic alkalosis associated with epilepsy, ataxia, and sensorineural deafness.<h4>Methods</h4>A candidate gene approach and whole-exome sequencing determined the underlying genetic defect in eight patients with a novel disease phenotype comprising a hypokalemic tubulopathy with renal salt wasting, disturbed acid-base homeo2021-01-01T00:00:00Z2021 Jun2025-04-19T20:44:45.461Z2025-04-19T20:44:45.461ZS-EPMC82596403381115710.1681/ASN.202011158710.1681/asn.2020111587