OBJECTIVES: Causes of acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) are sometimes difficult to determine in children. In such patients, genetic analysis may prove helpful. The present study analyzed mutations of cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), chymotrypsin C (CTRC), and carboxypeptidase A1 (CPA1) and investigated the clinical features of children with these mutations. METHODS: Genetic analyses of mutations in these 4 genes were conducted in 128 patients with ARP or CP. Characteristics of the patients showing mutations were investigated using medical records. RESULTS: Fifty of the 128 (39.1%) subjects had at least 1 mutation (median age at onset, 7.6 years). Abdominal pain was the presenting symptom of pancreatitis in 48 of the 50 patients (96%). Fifteen of those 50 patients (30.0%) had a family history of pancreatitis. Gene mutations were present in PRSS1 in 26 patients, SPINK1 in 23, CTRC in 3, and CPA1 in 5. In the 31 patients with mutations in SPINK1, CTRC, or CPA1, 16 (51.6%) had homozygous or heterozygous mutations with other mutations. Three patients underwent surgery and another 4 patients underwent endoscopy to manage ARP or CP. Although 3 of the 7 patients complained of mild abdominal pain, none of those 7 patients experienced any obvious episode of ARP after treatment. CONCLUSIONS: In pediatric patients with idiopathic ARP and CP, genetic analysis is useful for identifying the cause of pancreatitis. Early endoscopic or surgical treatment prevents ARP by extending the interval between episodes of pancreatitis in this population.
OBJECTIVES: Causes of acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP) are sometimes difficult to determine in children. In such patients, genetic analysis may prove helpful. The present study analyzed mutations of cationic trypsinogen (PRSS1), serine protease inhibitor Kazal type 1 (SPINK1), chymotrypsin C (CTRC), and carboxypeptidase A1 (CPA1) and investigated the clinical features of children with these mutations. METHODS: Genetic analyses of mutations in these 4 genes were conducted in 128 patients with ARP or CP. Characteristics of the patients showing mutations were investigated using medical records. RESULTS: Fifty of the 128 (39.1%) subjects had at least 1 mutation (median age at onset, 7.6 years). Abdominal pain was the presenting symptom of pancreatitis in 48 of the 50 patients (96%). Fifteen of those 50 patients (30.0%) had a family history of pancreatitis. Gene mutations were present in PRSS1 in 26 patients, SPINK1 in 23, CTRC in 3, and CPA1 in 5. In the 31 patients with mutations in SPINK1, CTRC, or CPA1, 16 (51.6%) had homozygous or heterozygous mutations with other mutations. Three patients underwent surgery and another 4 patients underwent endoscopy to manage ARP or CP. Although 3 of the 7 patients complained of mild abdominal pain, none of those 7 patients experienced any obvious episode of ARP after treatment. CONCLUSIONS: In pediatric patients with idiopathic ARP and CP, genetic analysis is useful for identifying the cause of pancreatitis. Early endoscopic or surgical treatment prevents ARP by extending the interval between episodes of pancreatitis in this population.
Authors: Sarah J Schwarzenberg; Aliye Uc; Bridget Zimmerman; Michael Wilschanski; C Mel Wilcox; David C Whitcomb; Steven L Werlin; David Troendle; Gong Tang; Adam Slivka; Vikesh K Singh; Stuart Sherman; Uzma Shah; Bimaljit S Sandhu; Joseph Romagnuolo; Sue Rhee; John F Pohl; Emily R Perito; Chee Y Ooi; Jaimie D Nathan; Thiruvengadam Muniraj; Veronique D Morinville; Brian McFerron; Maria Mascarenhas; Asim Maqbool; Quin Liu; Tom K Lin; Michele Lewis; Sohail Z Husain; Ryan Himes; Melvin B Heyman; Nalini Guda; Tanja Gonska; Matthew J Giefer; Andres Gelrud; Cheryl E Gariepy; Timothy B Gardner; Steven D Freedman; Christopher E Forsmark; Douglas S Fishman; Gregory A Cote; Darwin Conwell; Randall E Brand; Melena Bellin; Bradley Barth; Peter A Banks; Michelle A Anderson; Stephen T Amann; Samer Alkaade; Maisam Abu-El-Haija; Judah N Abberbock; Mark E Lowe; Dhiraj Yadav Journal: J Pediatr Gastroenterol Nutr Date: 2019-04 Impact factor: 2.839
Authors: Chinenye R Dike; Bridget Zimmerman; Yuhua Zheng; Michael Wilschanski; Steven L Werlin; David Troendle; Uzma Shah; Sarah Jane Schwarzenberg; John Pohl; Emily R Perito; Chee Y Ooi; Jaimie D Nathan; Veronique D Morinville; Brian McFerron; Maria Mascarenhas; Asim Maqbool; Quin Liu; Tom K Lin; Sohail Z Husain; Melvin B Heyman; Tanja Gonska; Matthew J Giefer; Cheryl E Gariepy; Douglas S Fishman; Melena Bellin; Bradley Barth; Maisam Abu-El-Haija; Mark E Lowe; Aliye Uc Journal: J Pediatr Gastroenterol Nutr Date: 2020-07 Impact factor: 3.288