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
Artigo
em Inglês
|
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Tipo de estudo:
Estudo prognóstico
Idioma:
Inglês
Revista:
Arch. endocrinol. metab. (Online)
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2023
Tipo de documento:
Artigo
/
Documento de projeto
País de afiliação:
China
Instituição/País de afiliação:
Shanghai Jiao Tong University/CN
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