1b 型假性醛固酮增多症的诊断和治疗注意事项。
Diagnostic and management considerations in pseudohypoaldosteronism type 1b.
机构信息
Division of Pulmonary and Sleep Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
出版信息
BMJ Case Rep. 2022 Jan 3;15(1):e246538. doi: 10.1136/bcr-2021-246538.
Abstract
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 We review diagnostic considerations including the molecular mechanisms of disease, discuss treatment approaches and highlight the possible significance of the diversity of pulmonary ENaCs.
摘要
1B 型假性醛固酮减少症是一种罕见的常染色体隐性遗传病，由阿米洛利敏感的上皮钠通道（ENaC）功能障碍引起。我们报告了一例因严重高钾血症导致心脏骤停后心源性休克的新生儿病例。基因检测显示一种新型纯合变异位于 SCNN1B 基因。我们回顾了诊断注意事项，包括疾病的分子机制，讨论了治疗方法，并强调了肺 ENaC 多样性的可能意义。
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