Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Karl P SchlingmannAparna ReniguntaEwout J HoornAnna-Lena ForstVijay ReniguntaVelko AtanasovSinthura MahendranTahsin Stefan BarakatValentine GillionNathalie GodefroidAlice S BrooksDorien LugtenbergJennifer LakeHuguette DebaixChristoph RudinBertrand KnebelmannStephanie TellierCaroline Rousset-RouvièreDaan H H M VieringJeroen H F de BaaijStefanie WeberOleg PalyginAlexander StaruschenkoRobert KletaPascal HouillierDetlef BockenhauerOlivier DevuystRosa Vargas-PoussouRichard WarthAnselm A ZdebikMartin KonradPublished in: Journal of the American Society of Nephrology : JASN (2021)
Biallelic variants in KCNJ16 were identified in patients with a novel disease phenotype comprising a variable proximal and distal tubulopathy associated with deafness. Variants affect the function of heteromeric potassium channels, disturbing proximal tubular bicarbonate handling as well as distal tubular salt reabsorption.