Pseudohypoaldosteronism type 1b in fraternal twins of a Chinese family: report of two cases and literature review
Arch. endocrinol. metab. (Online)
;
67(4): e000620, Mar.-Apr. 2023. tab, graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1439231
ABSTRACT
SUMMARY Here, we report the clinical observations of two Chinese fraternal twins who presented with severe dehydration, poor feeding, and absence of stimuli responses within a few days of birth. Trio clinical exome sequencing of the family identified compound heterozygous intronic variants (c.1439+1G>C and c.875+1G>A) in SCNN1A gene in these two patients. Sanger sequencing results showed that the c.1439+1G>C variant was inherited from the mother, and c.875+1G>A from the father, rarely reported in pseudohypoaldosteronism type 1 with sodium epithelial channel destruction (PHA1b) patients. Case 2 received timely symptomatic treatment and management after obtaining these results, which improved the clinical crisis. Our results suggest that the compound heterozygous splicing variants in SCNN1A were responsible for PHA1b in these Chinese fraternal twins. This finding extends the knowledge of the variant spectrum in PHA1b patients and highlights the application of exome sequencing in critically ill newborns. Finally, we discuss supportive case management, particularly in maintaining blood potassium concentration.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Prognostic study
Language:
English
Journal:
Arch. endocrinol. metab. (Online)
Journal subject:
Endocrinology
/
Metabolism
Year:
2023
Type:
Article
/
Project document
Affiliation country:
China
Institution/Affiliation country:
Shanghai Jiao Tong University/CN
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