Ouyang Hongjuan,Liu Li,Zhou Juan,et al.Clinical characteristics and genetic variations of hereditary pancreatitis in children at a single center[J].Journal of Clinical Pediatric Surgery,,():61-65.[doi:10.3760/cma.j.cn101785-202303017-012]
Clinical characteristics and genetic variations of hereditary pancreatitis in children at a single center
- Keywords:
- Hereditary Pancreatitis; Genetic Testing; Child
- Abstract:
- Objective To explore the clinical characteristics and genetic variations of hereditary pancreatitis (HP) in children.Methods A retrospective analysis was conducted for general profiles,clinical manifestations,genetic results and family backgrounds of 7 HP children from January 2019 to October 2022.The relevant literature items of HP were retrieved from the database of PubMed.Results There were 4 boys and 3 girls with an onset age of (7.84±3.27) years.At an initial onset,one child once consumed greasy food while the remainders had no obvious cause.There were upper abdomen & periumbilical pains (n=7) and malignant vomiting (n=6).None of them had abdominal distension,fever,jaundice or complication.Blood amylase,lipase and urinary amylase spiked by over 3 folds.Gene mutations of PRSS1 (n=1),SPINK1+CFTR (n=1) and SPINK1 (n=5) were detected.The results of family lineage indicated that none of immediate parents had a history of pancreatitis.Conventional conservative measures were offered.One child underwent endoscopic retrograde cholangiopancreatogram (ERCP) plus pancreatic duct lithotomy and pancreatic duct stenting.Conclusions It is rather difficult to distinguish pediatric HP from other types of pancreatitis based upon clinical symptoms.Testing pancreatitis related genes is beneficial for making an early diagnosis.Mutated SPINK1 gene causing pediatric HP deserves further researches.
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Memo
收稿日期:2023-3-5。
基金项目:湖南省自然科学基金(2023JJ60277)
通讯作者:赵红梅,Email:364875977@qq.com