Diagnostic and management considerations in pseudohypoaldosteronism type 1b
Keyword(s):
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.
2019 ◽
Vol 3
(2)
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pp. 84-86
2013 ◽
Vol 88
(1)
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pp. 135-137
2016 ◽
Vol 29
(8)
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2008 ◽
Vol 11
(1)
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pp. 63-65
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