A case of Ⅴ-type hyperlipidemia pancreatitis in children
10.3760/cma.j.cn101070-20200114-00065
- VernacularTitle:儿童Ⅴ型高脂血症胰腺炎1例
- Author:
Qi HAN
;
Tao LI
;
Jun ZHOU
;
Jianfeng ZHOU
;
Chunli WANG
;
Zhifeng LIU
;
Peng WU
;
Sirui PAN
- From:
Chinese Journal of Applied Clinical Pediatrics
2021;36(10):779-781
- CountryChina
- Language:Chinese
-
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.
