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A case of Ⅴ-type hyperlipidemia pancreatitis in children / 中华实用儿科临床杂志
Chinese Journal of Applied Clinical Pediatrics ; (24): 779-781, 2021.
Artigo em Chinês | WPRIM | ID: wpr-882919
ABSTRACT
Hyperlipidemia pancreatitis in children is mostly genetic metabolic disease.The incidence of acute pancreatitis in children is only (3-13)/100 000, and pancreatitis caused by hyperlipidemia accounts for 9% of acute pancreatitis.A child suffering from V-type hyperlipidemia pancreatitis was admitted to the Children′s Hospital Affiliated to Nanjing Medical University in July 2019.The missense mutation at position c. 2770G>A of CFTR gene (nucleotide 2770 in coding region changed from guanine to adenine) in children was detected by gene sequencing, thus resulting in amino acid change p. D924N.It is extremely rare to report that CFTR gene mutation causes hereditary pancreatitis, and there is no literature report on c. 2770G>A site.This case is reported as follows, hoping to provide reference and inspiration for pediatricians.
Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Applied Clinical Pediatrics Ano de publicação: 2021 Tipo de documento: Artigo

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Texto completo: DisponíveL Índice: WPRIM (Pacífico Ocidental) Idioma: Chinês Revista: Chinese Journal of Applied Clinical Pediatrics Ano de publicação: 2021 Tipo de documento: Artigo