Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children
Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children
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DOI：
10.1016/j.pan.2019.05.001
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发表时间：
2019-06-01
期刊：
影响因子：
3.6
通讯作者：
Denson, Lee A.
中科院分区：
文献类型：
--
作者：
Abu-El-Haija, Maisam;Valencia, C. Alexander;Denson, Lee A.
背景/目标：急性胰腺炎（AP）正在儿科中出现。一部分患有 AP 的儿童会进展为急性复发性胰腺炎 (ARP) 和慢性胰腺炎 (CP)。先前尚未研究过广泛的基因测试在进展中的作用。我们跟踪了在登记处和我们中心注册的儿童在第一次发作后进展为 ARP 和 CP 的情况。方法：本研究利用广泛的基因测序面板作为平台，评估遗传在第一次发作 AP 中的作用，以及儿童从第一次发作到 ARP 和 CP 随着时间的推移的进展。结果：具有相应变体的基因涉及 3 个研究组：AP、ARP 和 CP。我们已经表明，与 AP 和 ARP 组相比，CP 组中八个测试基因的基因变异的存在更加丰富。不止一个基因的存在与 CP 相关（p = 0.01）。 SPINKI 突变与 ARP 的更快进展显着相关 (p = 0.04)。具有 CFTR、SPINKI 或 PRSS1 的变异与随着时间的推移从 AP 到 CP 的更快进展相关 (p
Background/objectives: Acute pancreatitis (AP) is emerging in pediatrics. A subset of children with AP progresses to acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP). The role of extensive gene testing in the progression has not been investigated previously. We have followed children enrolled in the registry and at our center for progression to ARP and CP after the first attack.Methods: This study utilizes an extensive gene sequencing panel as a platform to evaluate the role of genetics in first attack AP, and the progression over time, from first attack to ARP and CP in children.Results: Genes, with corresponding variants were involved in the 3 groups studied: AP, ARP and CP. We have shown that the presence of gene variants from the eight tested genes is enriched in the CP group compared to the AP and ARP groups. The presence of more than one gene was associated with CP (p = 0.01). SPINKI mutation(s) was significantly associated with faster progression to ARP, (p = 0.04). Having a variant from CFTR, SPINKI or PRSS1, was associated with the faster progression from AP to CP over time (p