Effect of age and affection status on blood pressure, serum potassium and stature in familial hyperkalaemia and hypertension

摘要

Background. The rare autosomal dominant genetic disorder familial hyperkalemia and hypertension which is caused by mutations in WNK4 kinase, is characterized by childhood hyperkalemia and hypercalciuria, and appearance of hypertension in the third to fourth decade. Accompanying short stature is often described.