A late diagnosis of Pseudohypoaldosteronism type I in an infant with hypoplastic left heart syndrome presenting with failure to thrive

McVadon, Deani H; Costello, John M.; Twombley, Katherine; Zyblewski, Sinai C.

doi:10.1017/s1047951121003127

Cited by 1 publication

(1 citation statement)

References 6 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…PHA-1B usually manifests itself in the neonatal period and can be fatal in cases where severe electrolyte imbalance leads to cardiac failure or other complications [146]. Because of the multi-organ phenotypic consequences of PHA-1B and varying degrees of severity of symptoms, diagnosis is challenging [147][148][149][150]. Misdiagnosis is common, particularly as congenital adrenal hyperplasia (CAH) [151] or CF [148,152].…”

Section: Loss-of-function Mutations In Enac: Pha-1bmentioning

confidence: 99%

The Epithelial Sodium Channel—An Underestimated Drug Target

Lemmens‐Gruber

Tzotzos²

2023

IJMS

View full text Add to dashboard Cite

Epithelial sodium channels (ENaC) are part of a complex network of interacting biochemical pathways and as such are involved in several disease states. Dependent on site and type of mutation, gain- or loss-of-function generated symptoms occur which span from asymptomatic to life-threatening disorders such as Liddle syndrome, cystic fibrosis or generalized pseudohypoaldosteronism type 1. Variants of ENaC which are implicated in disease assist further understanding of their molecular mechanisms in order to create models for specific pharmacological targeting. Identification and characterization of ENaC modifiers not only furthers our basic understanding of how these regulatory processes interact, but also enables discovery of new therapeutic targets for the disease conditions caused by ENaC dysfunction. Numerous test compounds have revealed encouraging results in vitro and in animal models but less in clinical settings. The EMA- and FDA-designated orphan drug solnatide is currently being tested in phase 2 clinical trials in the setting of acute respiratory distress syndrome, and the NOX1/ NOX4 inhibitor setanaxib is undergoing clinical phase 2 and 3 trials for therapy of primary biliary cholangitis, liver stiffness, and carcinoma. The established ENaC blocker amiloride is mainly used as an add-on drug in the therapy of resistant hypertension and is being studied in ongoing clinical phase 3 and 4 trials for special applications. This review focuses on discussing some recent developments in the search for novel therapeutic agents.

show abstract