Hereditary Pancreatitis in Children: Report of One Case with Pedigree Analysis and Literature Review

doi:10.12114/j.issn.1007-9572.2022.0338

Abstract

Abstract:

Hereditary pancreatitis (HP) is a rare autosomal genetic disease that is often manifested by recurrent pancreatitis and complicated type 3c diabetes mellitus (T3cDM) , and even leads to pancreatic cancer, impairing the quality of life and prognosis of patients. We reported a child with HP caused by p.Val39Ala (V39A) mutation of the PRSS1 gene with a pedigree analysis, which is the first case report in China, hoping to provide clinicians with evidence for the diagnosis and treatment of HP.

Key words: Pancreatitis, Hereditary pancreatitis, Child, Serine proteases, Genes, Mutation, Type 3c diabetes mellitus, Pancreatic neoplasms

摘要：

遗传性胰腺炎（HP）是一种罕见的常染色体遗传病，表现为胰腺炎反复发作，常并发3c型糖尿病（T3cDM），甚至导致胰腺癌的发生，影响患者的生活质量及预后。本文报道了1例由丝氨酸蛋白酶1（PRSS1）基因p.Val39Ala（V39A）突变导致的HP患儿，同时对其家系进行了分析，以期为临床医师诊治HP提供参考。

关键词: 胰腺炎, 遗传性胰腺炎, 儿童, 丝氨酸蛋白酶类, 基因, 突变, 3c型糖尿病, 胰腺肿瘤

HE Xiaoli,LIANG Shuheng,LI Miaoxia, et al. Hereditary Pancreatitis in Children: Report of One Case with Pedigree Analysis and Literature Review[J]. Chinese General Practice, 2023, 26(05): 641-646. DOI: 10.12114/j.issn.1007-9572.2022.0338.
何小莉,梁淑恒,李妙遐等. 儿童遗传性胰腺炎及其家系分析一例报道并文献复习[J]. 中国全科医学, 2023, 26(05): 641-646. DOI: 10.12114/j.issn.1007-9572.2022.0338.

Figures/Tables 7

Figure 1 Cholangiopancreatography results of the child performed on January 21，2021

Figure 2 Abdominal MRI results of the child performed on January 21，2021

Figure 3 Gene sequencing results of the child with hereditary pancreatitis and his parents

Figure 4 Pedigree chart of the child with hereditary pancreatitis

Figure 5 Abdominal CT results of the child's mother performed in March，2010

Figure 6 Chest CT results of the child's mother performed in July，2010

Figure 7 Abdominal CT results of the child's mother performed in November，2010

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