title: Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis.
abstract: OBJECTIVE
  Hereditary pancreatitis (HP) has been rarely investigated in China. We aimed to describe clinical features and mutation frequency of Chinese patients with HP and to evaluate outcomes of endoscopic treatments.
  
  
  METHODS
  Inpatients diagnosed with HP from January 1995 to March 2013 were included. Demographic and clinical data including first onset age, age at diagnosis, sex, main symptoms, radiological findings, and outcomes of endoscopic treatments were collected. Mutations in serine protease inhibitor Kazal type 1 (SPINK1), PRSS1, and cystic fibrosis transmembrane conductance regulator (CFTR) were analyzed.
  
  
  RESULTS
  A total of 22 inpatients with HP (male, 12; female, 10) participated in this study. Mean (SD) age at first onset and at diagnosis were 24.5 (11.9) years and 29.1 (11.2) years, respectively. The predominant radiological feature was pancreatic calcifications. Thirty-nine endoscopic retrograde cholangiopancreatography procedures were successfully performed on 19 cases. In the final long-term follow-up, 21 patients got complete or incomplete remission after endoscopic retrograde cholangiopancreatography and/or surgery. Genetic analyses were available in 20 patients, and mutation rates of R122H, N29I, and A16V in PRSS1 were 60%, 25% and 5%, respectively.
  
  
  CONCLUSIONS
  As compared with previous studies, our patient cohort, with a relatively higher frequency of R122H mutation, showed a much lower surgery rate, and endoscopic interventions may be recommended to be the first-line treatment.
authors: From the *Department of Gastroenterology, Changhai Hospital, Second Military Medical University; †Second Team, School of Clinical Medicine, Second Military Medical University; ‡Department of Gastroenterology, Shanghai Ruijin Hospital, Shanghai, China; §Institut National de la Santé et de la Recherche Médicale (INSERM), and ∥Établissement Français du Sang (EFS)-Bretagne, Brest, France.
authors: Xiao-Tian
authors: XT
authors: Sun
authors: Liang-Hao
authors: LH
authors: Hu
authors: Tian
authors: T
authors: Xia
authors: Lin-Li
authors: LL
authors: Shi
authors: Chang
authors: C
authors: Sun
authors: Yi-Qi
authors: YQ
authors: Du
authors: Wei
authors: W
authors: Wang
authors: Jian-Min
authors: JM
authors: Chen
authors: Zhuan
authors: Z
authors: Liao
authors: Zhao-Shen
authors: ZS
authors: Li
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People / Q000235:genetics; D002114:Calcinosis; D002352:Carrier Proteins / Q000235:genetics; D002648:Child; D002681:China; D002760:Cholangiopancreatography, Endoscopic Retrograde; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010179:Pancreas / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery*; D050500:Pancreatitis, Chronic / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics / Q000601:surgery*; D010375:Pedigree; D010641:Phenotype; D012074:Remission Induction; D012189:Retrospective Studies; D016896:Treatment Outcome; D014357:Trypsin / Q000235:genetics; D014359:Trypsin Inhibitor, Kazal Pancreatic; D055815:Young Adult
chemical_list: C505032:CFTR protein, human; D002352:Carrier Proteins; D005819:Genetic Markers; C486642:SPINK1 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014359:Trypsin Inhibitor, Kazal Pancreatic; C489303:PRSS1 protein, human; D014357:Trypsin