Diagnostic and management considerations in pseudohypoaldosteronism type 1b
BMJ CASE REPORTS(2022)
摘要
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.
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关键词
genetics, congenital disorders, fluid electrolyte and acid-base disturbances, respiratory medicine
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