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.

引用

页数：4

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