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Data for: SPINK1 and pancreaticobiliary maljunction: An unusual co-etiology of pancreatitis

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Mendeley Data2024-06-25 更新2024-06-26 收录
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Chronic pancreatitis (CP) in childhood is a rare condition and its etiology varies with mainly associated with genetic abnormalities, autoimmune pancreatitis, and obstruction. The authors describe a 6-year-old girl presented with abdominal pain and diagnosed as CP with an infected peripancreatic fluid collections (peri-PFC), and found a pancreaticobiliary maljunction (PBM) together with a SPINK 1 mutation at N34S codon. This combination of an anatomical obstruction and genetic mutation should be aware, in early childhood presented with pancreatitis.

儿童期慢性胰腺炎(CP)是一种罕见病症,其病因存在差异,主要与遗传异常、自身免疫性胰腺炎及梗阻相关。本文作者报道1例以腹痛为临床表现的6岁女童,确诊为慢性胰腺炎伴感染性胰周积液(peri-PFC),同时检出其存在胰胆管合流异常(PBM)以及SPINK1基因N34S密码子突变。对于儿童早期以胰腺炎起病的病例,应警惕这种解剖梗阻与遗传突变并存的情况。
创建时间:
2024-01-23
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