Autoszomális recesszív · Very rare; a small number of families have been reported.
Caused by loss-of-function changes in both copies of KCNJ16, which encodes the Kir5.1 potassium channel subunit used in the kidney tubules. Each parent usually carries one changed copy.
Tünetek és jelek
Low blood potassium with salt wasting, and a disturbed blood acid balance that may be either too acidic or too alkaline. Many people also have sensorineural hearing loss. Symptoms can include muscle weakness, sometimes severe enough to cause paralysis.
Mit változtat a diagnózis
Potassium supplements and correction of acid balance, guided by a kidney specialist, with regular blood monitoring and hearing assessment. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
