Open AccessSystemic pseudohypoaldosteronism-1 with episodic dyslipidemia in a Sudanese child
Author(s) -
Asmahan Abdalla,
Mohammed Alhassan,
Reem Tawfeeg,
Ayman Sanad,
Hasan Tawamie,
Mohamed Abdullah
Publication year - 2021
Publication title -
endocrinology, diabetes and metabolism case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.307
H-Index - 7
ISSN - 2052-0573
DOI - 10.1530/edm-21-0010
Subject(s) - pseudohypoaldosteronism , medicine , hyperkalemia , dyslipidemia , mineralocorticoid , mineralocorticoid receptor , metabolic acidosis , endocrinology , aldosterone , hyponatremia , congenital adrenal hyperplasia , hypoaldosteronism , blood pressure , diabetes mellitus , renin–angiotensin system
Systemic pseudohypoaldosteronism type 1 (PHA1) is a rare genetic syndrome of tissue unresponsiveness to aldosterone caused by mutations affecting the epithelial Na channel (ENaC). The classical presentation is life-threatening neonatal/infantile salt-losing crises that mimic congenital adrenal hyperplasia (CAH). Consistently, extra-renal manifestations, including respiratory symptoms that resemble cystic fibrosis, are well reported. Clinical diagnosis is made by the presence of hyponatremia, hyperkalemia, metabolic acidosis, respiratory symptoms, evidence of high renal and extra-renal salt loss in addition to high plasma renin and aldosterone levels. We herein report a novel manifestation of PHA1: episodic dyslipidemia in a 7-month-old Sudanese boy that occurred during the salt-losing crises. Whole exome sequencing of the patient revealed one homozygous missense variant c.1636G>A p.(Asp546Asn) in the SCNN1B gene, confirming our clinical and laboratory findings that were compatible with PHA1. This report aims to highlight the possible explanation of dyslipidemia in PHA1 and its expected consequences in the long term.