Related Experiment Video
Updated: Oct 8, 2025

A Novel Method: Super-selective Adrenal Venous Sampling
Published on: September 15, 2017
Diagnostic and management considerations in pseudohypoaldosteronism type 1b
Jelte Kelchtermans1,2, Sara E Pinney2,3, Jacqueline M M Leonard4
1Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA kelchtermj@chop.edu.
Abstract:
Pseudohypoaldosteronism type 1B is a rare autosomal recessive disorder caused by dysfunction of amiloride-sensitive epithelial sodium channels (ENaCs). We present the case of a neonate with cardiogenic shock after cardiac arrest due to profound hyperkalaemia. Genetic testing revealed a novel homozygous variant in SCNNIA We review diagnostic considerations including the molecular mechanisms of disease, discuss treatment approaches and highlight the possible significance of the diversity of pulmonary ENaCs.
Related Concept Videos
Antihypertensive Drugs: Potassium-Sparing Diuretics
Nephrotic Syndrome II : Assessment and Medical Management
Chronic Kidney Disease III: Interprofessional Care
Renal Tubule and Collecting Duct
Proximal Convoluted Tubule (PCT):
The PCT is the initial segment of the renal tubule, extending from the Bowman's capsule that encloses the glomerulus. Its convoluted structure and microvilli-lined cells increase the surface area for reabsorption. The PCT reabsorbs glucose, amino acids, sodium, and water from the filtrate, ensuring essential...
Antihypertensive Drugs: Direct Renin Inhibitors
Heart Failure Drugs: Inhibitors of Renin-Angiotensin System

