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Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children.

ABSTRACT: 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). SPINK1 mutation(s) was significantly associated with faster progression to ARP, (p?=?0.04). Having a variant from CFTR, SPINK1 or PRSS1, was associated with the faster progression from AP to CP over time (p?

SUBMITTER: Abu-El-Haija M

PROVIDER: S-EPMC6589390 | biostudies-literature | 2019 Jun

REPOSITORIES: biostudies-literature

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Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children.

Abu-El-Haija Maisam M Valencia C Alexander CA Hornung Lindsey L Youssef Nour N Thompson Tyler T Barasa Nathaniel W NW Wang Xinjian X Denson Lee A LA

Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] 20190507 4

<h4>Background/objectives</h4>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.<h4>Methods</h4>This study utilizes an extensive gene sequencing panel as a platform to evaluate ...[more]

PMID: 31088717

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Project description:IMPORTANCE:Pediatric acute recurrent pancreatitis (ARP) and chronic pancreatitis (CP) are poorly understood. OBJECTIVE:To characterize and identify risk factors associated with ARP and CP in childhood. DESIGN, SETTING, AND PARTICIPANTS:A multinational cross-sectional study of children with ARP or CP at the time of enrollment to the INSPPIRE (International Study Group of Pediatric Pancreatitis: In Search for a Cure) study at participant institutions of the INSPPIRE Consortium. From August 22, 2012, to February 8, 2015, 155 children with ARP and 146 with CP (aged ?19 years) were enrolled. Their demographic and clinical information was entered into the REDCap (Research Electronic Data Capture) database at the 15 centers. Differences were analyzed using 2-sample t test or Wilcoxon rank sum test for continuous variables and Pearson ?2 test or Fisher exact test for categorical variables. Disease burden variables (pain variables, hospital/emergency department visits, missed school days) were compared using Wilcoxon rank sum test. MAIN OUTCOMES AND MEASURES:Demographic characteristics, risk factors, abdominal pain, and disease burden. RESULTS:A total of 301 children were enrolled (mean [SD] age, 11.9 [4.5] years; 172 [57%] female); 155 had ARP and 146 had CP. The majority of children with CP (123 of 146 [84%]) reported prior recurrent episodes of acute pancreatitis. Sex distribution was similar between the groups (57% female in both). Hispanic children were less likely to have CP than ARP (17% vs 28%, respectively; odds ratio [OR]?=?0.51; 95% CI, 0.29-0.92; P?=?.02). At least 1 gene mutation in pancreatitis-related genes was found in 48% of patients with ARP vs 73% of patients with CP (P?<?.001). Children with PRSS1 or SPINK1 mutations were more likely to present with CP compared with ARP (PRSS1: OR?=?4.20; 95% CI, 2.14-8.22; P?<?.001; and SPINK1: OR?=?2.30; 95% CI, 1.03-5.13; P?=?.04). Obstructive risk factors did not differ between children with ARP or CP (33% in both the ARP and CP groups), but toxic/metabolic risk factors were more common in children with ARP (21% overall; 26% in the ARP group and 15% in the CP group; OR?=?0.55; 95% CI, 0.31-0.99; P?=?.046). Pancreatitis-related abdominal pain was a major symptom in 81% of children with ARP or CP within the last year. The disease burden was greater in the CP group compared with the ARP group (more emergency department visits, hospitalizations, and medical, endoscopic, and surgical interventions). CONCLUSIONS AND RELEVANCE:Genetic mutations are common in both ARP and CP. Ethnicity and mutations in PRSS1 or SPINK1 may influence the development of CP. The high disease burden in pediatric CP underscores the importance of identifying predisposing factors for progression of ARP to CP in children.

Dataset Information

Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children.

Publications

Genetic variants in acute, acute recurrent and chronic pancreatitis affect the progression of disease in children.

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