Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations

Matthew J. Giefer, Mark E. Lowe, Steven L. Werlin, Bridget Zimmerman, Michael Wilschanski, David Troendle, Sarah Jane Schwarzenberg, John F. Pohl, Joseph Palermo, Chee Y. Ooi, Veronique D. Morinville, Tom K. Lin, Sohail Z. Husain, Ryan Himes, Melvin B. Heyman, Tanja Gonska, Cheryl E. Gariepy, Steven D. Freedman, Douglas S. Fishman, Melena D. Bellin & 3 others Bradley Barth, Maisam Abu-El-Haija, Aliye Uc

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Abstract

Objectives To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). Study design Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years). Results Between September 2012 and March 2016, 342 children with ARP or CP were enrolled; 129 (38%) were <6 years of age at the time of first diagnosis of acute pancreatitis, 111 (32%) were 6-11 years of age, and 102 (30%) were ≥12 years of age. Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). Later-onset disease was more commonly present with hypertriglyceridemia (P = .04), ulcerative colitis (P = .02), autoimmune diseases (P < .0001), or medication use (P < .01). Children with later-onset disease also were more likely to visit the emergency department (P < .05) or have diabetes (P < .01). Conclusions Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. Children with later-onset disease are more likely to have nongenetic risk factors. Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset.

Original languageEnglish (US)
Pages (from-to)95-100
Number of pages6
JournalJournal of Pediatrics
Volume186
DOIs
StatePublished - Jul 1 2017

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Chronic Pancreatitis
Pancreatitis
Mutation
Genes
Pediatrics
Trypsinogen
chymotrypsin C
Hypertriglyceridemia
Ulcerative Colitis
Age of Onset
Autoimmune Diseases
Chronic Kidney Failure
Hospital Emergency Service
Cysts
Age Groups
Demography

Keywords

  • children
  • genetic
  • pediatric
  • risk
  • young

Cite this

Giefer, M. J., Lowe, M. E., Werlin, S. L., Zimmerman, B., Wilschanski, M., Troendle, D., ... Uc, A. (2017). Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. Journal of Pediatrics, 186, 95-100. https://doi.org/10.1016/j.jpeds.2017.03.063

Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. / Giefer, Matthew J.; Lowe, Mark E.; Werlin, Steven L.; Zimmerman, Bridget; Wilschanski, Michael; Troendle, David; Schwarzenberg, Sarah Jane; Pohl, John F.; Palermo, Joseph; Ooi, Chee Y.; Morinville, Veronique D.; Lin, Tom K.; Husain, Sohail Z.; Himes, Ryan; Heyman, Melvin B.; Gonska, Tanja; Gariepy, Cheryl E.; Freedman, Steven D.; Fishman, Douglas S.; Bellin, Melena D.; Barth, Bradley; Abu-El-Haija, Maisam; Uc, Aliye.

In: Journal of Pediatrics, Vol. 186, 01.07.2017, p. 95-100.

Research output: Contribution to journalArticle

Giefer, MJ, Lowe, ME, Werlin, SL, Zimmerman, B, Wilschanski, M, Troendle, D, Schwarzenberg, SJ, Pohl, JF, Palermo, J, Ooi, CY, Morinville, VD, Lin, TK, Husain, SZ, Himes, R, Heyman, MB, Gonska, T, Gariepy, CE, Freedman, SD, Fishman, DS, Bellin, MD, Barth, B, Abu-El-Haija, M & Uc, A 2017, 'Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations' Journal of Pediatrics, vol. 186, pp. 95-100. https://doi.org/10.1016/j.jpeds.2017.03.063
Giefer, Matthew J. ; Lowe, Mark E. ; Werlin, Steven L. ; Zimmerman, Bridget ; Wilschanski, Michael ; Troendle, David ; Schwarzenberg, Sarah Jane ; Pohl, John F. ; Palermo, Joseph ; Ooi, Chee Y. ; Morinville, Veronique D. ; Lin, Tom K. ; Husain, Sohail Z. ; Himes, Ryan ; Heyman, Melvin B. ; Gonska, Tanja ; Gariepy, Cheryl E. ; Freedman, Steven D. ; Fishman, Douglas S. ; Bellin, Melena D. ; Barth, Bradley ; Abu-El-Haija, Maisam ; Uc, Aliye. / Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations. In: Journal of Pediatrics. 2017 ; Vol. 186. pp. 95-100.
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abstract = "Objectives To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). Study design Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years). Results Between September 2012 and March 2016, 342 children with ARP or CP were enrolled; 129 (38{\%}) were <6 years of age at the time of first diagnosis of acute pancreatitis, 111 (32{\%}) were 6-11 years of age, and 102 (30{\%}) were ≥12 years of age. Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). Later-onset disease was more commonly present with hypertriglyceridemia (P = .04), ulcerative colitis (P = .02), autoimmune diseases (P < .0001), or medication use (P < .01). Children with later-onset disease also were more likely to visit the emergency department (P < .05) or have diabetes (P < .01). Conclusions Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. Children with later-onset disease are more likely to have nongenetic risk factors. Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset.",
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author = "Giefer, {Matthew J.} and Lowe, {Mark E.} and Werlin, {Steven L.} and Bridget Zimmerman and Michael Wilschanski and David Troendle and Schwarzenberg, {Sarah Jane} and Pohl, {John F.} and Joseph Palermo and Ooi, {Chee Y.} and Morinville, {Veronique D.} and Lin, {Tom K.} and Husain, {Sohail Z.} and Ryan Himes and Heyman, {Melvin B.} and Tanja Gonska and Gariepy, {Cheryl E.} and Freedman, {Steven D.} and Fishman, {Douglas S.} and Bellin, {Melena D.} and Bradley Barth and Maisam Abu-El-Haija and Aliye Uc",
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T1 - Early-Onset Acute Recurrent and Chronic Pancreatitis Is Associated with PRSS1 or CTRC Gene Mutations

AU - Giefer, Matthew J.

AU - Lowe, Mark E.

AU - Werlin, Steven L.

AU - Zimmerman, Bridget

AU - Wilschanski, Michael

AU - Troendle, David

AU - Schwarzenberg, Sarah Jane

AU - Pohl, John F.

AU - Palermo, Joseph

AU - Ooi, Chee Y.

AU - Morinville, Veronique D.

AU - Lin, Tom K.

AU - Husain, Sohail Z.

AU - Himes, Ryan

AU - Heyman, Melvin B.

AU - Gonska, Tanja

AU - Gariepy, Cheryl E.

AU - Freedman, Steven D.

AU - Fishman, Douglas S.

AU - Bellin, Melena D.

AU - Barth, Bradley

AU - Abu-El-Haija, Maisam

AU - Uc, Aliye

PY - 2017/7/1

Y1 - 2017/7/1

N2 - Objectives To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). Study design Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years). Results Between September 2012 and March 2016, 342 children with ARP or CP were enrolled; 129 (38%) were <6 years of age at the time of first diagnosis of acute pancreatitis, 111 (32%) were 6-11 years of age, and 102 (30%) were ≥12 years of age. Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). Later-onset disease was more commonly present with hypertriglyceridemia (P = .04), ulcerative colitis (P = .02), autoimmune diseases (P < .0001), or medication use (P < .01). Children with later-onset disease also were more likely to visit the emergency department (P < .05) or have diabetes (P < .01). Conclusions Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. Children with later-onset disease are more likely to have nongenetic risk factors. Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset.

AB - Objectives To assess whether the age of onset was associated with unique features or disease course in pediatric acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). Study design Demographic and clinical information on children with ARP or CP was collected at INSPPIRE (INternational Study Group of Pediatric Pancreatitis: In Search for a CuRE) centers. The Cochran-Armitage trend test and Jonckheere-Terpstra test were used to examine for differences between pediatric age groups (<6, 6-11, and ≥12 years). Results Between September 2012 and March 2016, 342 children with ARP or CP were enrolled; 129 (38%) were <6 years of age at the time of first diagnosis of acute pancreatitis, 111 (32%) were 6-11 years of age, and 102 (30%) were ≥12 years of age. Early-onset disease was associated with mutations in cationic trypsinogen (PRSS1) (P < .01), chymotrypsin C (CTRC) (P = .01), family history of acute pancreatitis (P = .02), family history of CP (P < .01), biliary cysts (P = .04), or chronic renal failure (P = .02). Later-onset disease was more commonly present with hypertriglyceridemia (P = .04), ulcerative colitis (P = .02), autoimmune diseases (P < .0001), or medication use (P < .01). Children with later-onset disease also were more likely to visit the emergency department (P < .05) or have diabetes (P < .01). Conclusions Early-onset pancreatitis is associated strongly with PRSS1 or CTRC mutations and family history of pancreatitis. Children with later-onset disease are more likely to have nongenetic risk factors. Future studies are needed to investigate whether the disease course, response to therapy, or clinical outcomes differ relative to the timing of disease onset.

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KW - genetic

KW - pediatric

KW - risk

KW - young

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