Wednesday, April 3, 2013

Electrolyte Disorders involving Tubular Channels

Though adult nephrologists infrequently encounter these disorders in clinic, the Board Exam loves them. Below a short table describing some of these gain- and loss-of-function channel disorders that are worth remembering. The diuretic-targeted channels are shown under parenthesis as a reference.


Dr. Helbert Rondon said...

Great table ! Just an observation: Autosomal Dominant Pseudohypoaldosteronism type 1 actually involves a loss of function mutation of the mineralocorticoid receptor, not of ENaC

Leonardo V Riella, MD, PhD said...

Thx Dr Rondon. There are actually two types of Pseudohypoaldo type1: AD which has a defect on aldosterone receptor and AR that has defect on ENaC.