Diagnostic and management considerations in pseudohypoaldosteronism type 1b.

Autor:	Kelchtermans J; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA kelchtermj@chop.edu.; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pinney SE; Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Division of Endocrinology and Diabetes, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard JMM; Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Mcgrath-Morrow S; Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Jazyk:	angličtina
Zdroj:	BMJ case reports [BMJ Case Rep] 2022 Jan 03; Vol. 15 (1). Date of Electronic Publication: 2022 Jan 03.
DOI:	10.1136/bcr-2021-246538
Abstrakt:	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. Competing Interests: Competing interests: None declared. (© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.)
Databáze:	MEDLINE
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