Diagnostic and management considerations in pseudohypoaldosteronism type 1b

被引：0
|
作者：
Kelchtermans, Jelte [1 ,2 ]
Pinney, Sara E. [2 ,3 ]
Leonard, Jacqueline M. M. [4 ]
Mcgrath-Morrow, Sharon [1 ]
机构：
[1] Childrens Hosp Philadelphia, Div Pulm & Sleep Med, Philadelphia, PA 19104 USA
[2] Univ Penn, Perelman Sch Med, Philadelphia, PA 19104 USA
[3] Childrens Hosp Philadelphia, Div Endocrinol & Diabet, Philadelphia, PA 19104 USA
[4] Childrens Hosp Philadelphia, Roberts Individualized Med Genet Ctr, Philadelphia, PA 19104 USA
来源：
BMJ CASE REPORTS | 2022年 / 15卷 / 01期
基金：
美国国家卫生研究院;
关键词：
genetics; congenital disorders; fluid electrolyte and acid-base disturbances; respiratory medicine; EPITHELIAL NA+ CHANNEL; BETA-ADRENERGIC AGONIST; SODIUM-CHANNELS; ALPHA-SUBUNIT; EXPRESSION; CLEARANCE; DELETION;
D O I：
10.1136/bcr-2021-246538
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
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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页数：4
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