N34S SPINK1基因突变杂合的儿童急性复发性胰腺炎

Stefany Hg, Erika Eb, Alex, W. Er, W. Viraine, Melissa Ll, Michael Jw
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引用次数: 0

摘要

儿童急性胰腺炎与腹部创伤、药物和毒素摄入、多系统疾病、病毒性疾病和结构异常有关[1]。胰酶水平在3-4天内下降,通常找不到具体原因[1,2]。分泌性胰蛋白酶抑制剂(SPINK1)基因突变与遗传性和慢性胰腺炎(CP)有关。然而,在文献中,其与急性胰腺炎(AP)[3,4]和急性复发性胰腺炎(ARP)[5,6]的关联仍然罕见,尤其是在儿童中。我们提出的情况下,儿童ARP发现是杂合的N34S突变的SPINK1基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acute Recurrent Pancreatitis in a Child Heterozygous for the N34S SPINK1 Gene Mutation
Acute pancreatitis in children is associated with abdominal trauma, drug and toxin ingestion, multi-system diseases, viral illness, and structural abnormalities [1]. Pancreatic enzyme levels decline over 3–4 days and often no specific cause is found [1,2]. Mutations in the secretory trypsin inhibitor (SPINK1) gene are associated with both hereditary and chronic pancreatitis (CP). However, its association with acute pancreatitis (AP) [3,4] and acute recurrent pancreatitis (ARP) [5,6] in the literature remains rare, especially in children. We present the case of a child with ARP found to be heterozygous for the N34S mutation of the SPINK1 gene.
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