Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis

Autor: Xiao-Tian Sun, Zhao-Shen Li, Liang-Hao Hu, Tian Xia, Zhuan Liao, Chang Sun, Lin-Li Shi, Yi-Qi Du, Jian-Min Chen, Wei Wang
Rok vydání: 2014
Předmět:
Male
Heredity
Endocrinology
Diabetes and Metabolism
DNA Mutational Analysis
Age at diagnosis
Cystic Fibrosis Transmembrane Conductance Regulator
Gastroenterology
Endocrinology
Gene Frequency
Trypsin
Mutation frequency
Child
Cholangiopancreatography
Endoscopic Retrograde
Hereditary pancreatitis
Endoscopic retrograde cholangiopancreatography
medicine.diagnostic_test
biology
Remission Induction
Calcinosis
Middle Aged
Cystic fibrosis transmembrane conductance regulator
Pedigree
Phenotype
Treatment Outcome
Trypsin Inhibitor
Kazal Pancreatic
Radiological weapon
Cohort
Female
Endoscopic treatment
Adult
Genetic Markers
medicine.medical_specialty
China
Adolescent
Young Adult
Asian People
Internal medicine
Pancreatitis
Chronic
Internal Medicine
medicine
Humans
Genetic Predisposition to Disease
Pancreas
Retrospective Studies
Hepatology
business.industry
medicine.disease
Mutation
biology.protein
business
Carrier Proteins
Zdroj: Pancreas. 44(1)
ISSN: 1536-4828
Popis: OBJECTIVES 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.
Databáze: OpenAIRE
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