Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 24
Filtrar
1.
Pancreatology ; 20(8): 1667-1672, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33132046

RESUMO

BACKGROUND/OBJECTIVES: Black Americans are at increased risk of chronic pancreatitis (CP) compared to their White counterparts. We aimed to describe the race-specific smoking history and lifetime drinking in patients diagnosed with CP. METHODS: We analyzed data on 334 Black and White CP participants of the North American Pancreatitis Study 2 Continuation and Validation Study and Ancillary Study. Lifetime drinking history and lifetime smoking history were collected through in-person interviews. Intensity, frequency, duration and current status of drinking and smoking were compared between Black and White CP participants, stratified by physician-defined alcohol etiology. In addition, drinking levels at each successive decades in life (20s, 30s, 40s) were compared by race and graphically portrayed as heat diagrams. RESULTS: Among patients with alcoholic CP, current smoking levels were not different by race (67-70%), but a smaller proportion of Black patients reported having smoked 1 or more packs per day in the past (32%) as compared to White patients (58%, p < 0.0001). Black patients were more likely to report current consumption of alcohol (31%), as opposed to White patients (17%, p = 0.016). Black patients also reported more intense drinking at age 35 and 45 years as compared to White patients, while age at CP onset were similar between the two groups. CONCLUSION: We found more intense drinking but less intense smoking history in Black CP patients as compared to White CP patients. Effective alcohol abstinence and smoking cessation program with sustained impact are needed in CP patients.


Assuntos
Consumo de Bebidas Alcoólicas , Negro ou Afro-Americano , Pancreatite Crônica , Fumar , Adulto , Humanos , Estudos Longitudinais , Pancreatite Crônica/etnologia , Fatores de Risco , População Branca
3.
Pancreas ; 48(8): 1098-1101, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31404017

RESUMO

OBJECTIVES: Acute and/or chronic pancreatitis has been implicated as an important risk factor for pancreatic cancer; however, the incidence and temporal relationship of pancreatitis before pancreatic cancer diagnosis are unclear. We aim to understand the role and incidence of pancreatitis temporally with the development of pancreatic cancer. METHODS: A population-based study was used to investigate a temporal relationship between pancreatitis and pancreatic cancer diagnoses. Intervals of 3, 6, 12, 24, and 36 months were developed. Demographical data including age, sex, and race were also recorded and analyzed. RESULTS: A total of 50,080 patients were found to have a diagnosis of pancreatic cancer, of which 7420 (14.8%) had prior diagnoses of pancreatitis. Of those, 92% were between the ages of 40 and 89 years. African Americans had a higher rate of pancreatitis before cancer diagnosis when compared with whites (21.2% vs 14.8%, P < 0.0001). Further analysis revealed that pancreatitis occurred in 81.3% of patients 3 months before a diagnosis of pancreas cancer and 98.9% had established diagnoses of pancreatic cancer within 3 years. CONCLUSIONS: Screening of patients older than 40 years who have pancreatitis and unclear etiology of pancreatitis may be warranted, especially in African Americans and male individuals.


Assuntos
Neoplasias Pancreáticas/epidemiologia , Pancreatite Crônica/epidemiologia , Pancreatite/epidemiologia , Análise Espaço-Temporal , Adulto , Negro ou Afro-Americano/estatística & dados numéricos , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/diagnóstico , Neoplasias Pancreáticas/etnologia , Pancreatite/diagnóstico , Pancreatite/etnologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etnologia , Fatores de Risco , Estados Unidos/epidemiologia , População Branca/estatística & dados numéricos
4.
Adv Clin Exp Med ; 28(3): 307-312, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30277669

RESUMO

BACKGROUND: Genetic mutations are one of the etiological factors that predispose people to develop chronic pancreatitis. OBJECTIVES: The aim of our study was to examine the effect of p.Trp55*, p.Arg254Trp and c.738_761del mutations in the chemotrypsin gene (CTRC) on the development of alcoholic chronic pancreatitis (ACP) in order to answer the questions whether these mutations vary between gender groups, whether they were related to the age when ACP was first diagnosed, and whether they affected the morphological changes in the pancreas and the course of ACP. MATERIAL AND METHODS: The study included 124 patients with ACP, 52 with nonalcoholic pancreatitis and 52 controls. The p.Trp55*, c.738_761del and p.Arg254Trp mutations in the CTRC gene were tested by the polymerase chain reaction (PCR). RESULTS: The c.738_761del and p.Arg254Trp mutations occurred in 3.07% and 1.31% of cases, respectively. None of the examined patients were found to have the p.Trp55* mutation. The frequency of detected mutations did not significantly differ between the study groups. The c.738_761del mutation was detected more frequently in women than in men. No significant differences were found in the age at ACP onset, morphological changes affecting the pancreas, or in the course of ACP between the patients with and without the 2 examined mutations. The c.738_761del mutation was significantly more frequent in the diabetic patients than in the non-diabetics. The patients with this mutation more frequently required surgery than those without the c.738_761del mutation. CONCLUSIONS: No relationship between the c.738_761del and p.Arg254Trp mutations and the development of APC was found. The c.738_761del mutation was more frequent in females than in males. Neither mutation affected the patient's age at ACP onset or its course. In contrast to p.Arg254Trp, the c.738_761del mutation correlated with diabetes development and the need for surgery in the course of ACP.


Assuntos
Quimotripsina/genética , Predisposição Genética para Doença , Mutação/genética , Pancreatite Alcoólica/genética , Pancreatite/genética , População Branca/genética , Feminino , Humanos , Masculino , Pancreatite Alcoólica/etnologia , Pancreatite Crônica/etnologia , Pancreatite Crônica/genética , Polônia , Reação em Cadeia da Polimerase , Inibidor da Tripsina Pancreática de Kazal , População Branca/etnologia
5.
Dig Liver Dis ; 49(9): 967-972, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28780053

RESUMO

BACKGROUND: The cystic fibrosis transmembrane conductance regulator (CFTR) has been reported to influence individual susceptibility to chronic pancreatitis (CP), but the results of previous studies are controversial. AIMS: We performed a study to demonstrate the relationship between CFTR and CP. METHODS: We searched PubMed, Scopus, and Embase for studies of patients with CP. Seven studies from 1995 to 2016 were identified, and included 64,832 patients. Pooled prevalence and 95% confidence intervals (CIs) were calculated. RESULTS: F508 deletion in CFTR was significantly positively associated with CP risk in the overall analysis (odds ratio [OR]=3.20, 95% CI: 2.30-4.44, I2=31.7%). In subgroup analysis stratified by ethnicity, F508 deletion was significantly associated with CP risk in Indian populations, using a fixed effects model (ORs=5.45, 95% CI: 2.52-11.79, I2=0.0%), and in non-Indian populations, using a random effects model (ORs=3.59, 95% CI: 1.73-7.48, I2=60.9%). At the same time, we found that Indians with F508 deletion had much higher CP prevalence than non-Indians. Interestingly, F508 deletion was also associated with CP and idiopathic CP risk in subgroup analysis stratified by aeitiology, using the fixed effects model. CONCLUSIONS: Based on current evidence, F508 deletion is a risk factor for CP, and Indians with F508 deletion have much higher CP morbidity.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Pancreatite Crônica/etnologia , Pancreatite Crônica/genética , Humanos , Índia , Mutação , Fatores de Risco , Deleção de Sequência
6.
Pancreas ; 46(6): 764-769, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-28609364

RESUMO

OBJECTIVE: The aim of this study was to characterize utilization and benefit of therapeutic endoscopic retrograde cholangiopancreatography (ERCP) in children with acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP). METHODS: From August 2012 to February 2015, 301 children with ARP or CP were enrolled in the INSPPIRE (INternational Study group of Pediatric Pancreatitis: In search for a cuRE) study. Physicians reported utilization and benefit of therapeutic ERCP at enrollment. Differences were analyzed using appropriate statistical methods. RESULTS: One hundred seventeen children (38.9%) underwent at least 1 therapeutic ERCP. The procedure was more commonly performed in children with CP compared with those with ARP (65.8% vs 13.5%, P < 0.0001). Utility of therapeutic ERCP was reported to be similar between ARP and CP (53% vs 56%, P = 0.81) and was found to be helpful for at least 1 indication in both groups (53/99 patients [53.5%]). Predictors for undergoing therapeutic ERCP were presence of obstructive factors in ARP and CP, Hispanic ethnicity, or white race in CP. CONCLUSIONS: Therapeutic ERCP is frequently utilized in children with ARP or CP and may offer benefit in selected cases, specifically if ductal obstruction is present. Longitudinal studies are needed to clarify the efficacy of therapeutic ERCP and to explore subgroups that might have increased benefit from such intervention.


Assuntos
Colangiopancreatografia Retrógrada Endoscópica/estatística & dados numéricos , Pancreatite Crônica/terapia , Pancreatite/terapia , Padrões de Prática Médica , Doença Aguda , Adolescente , Fatores Etários , Criança , Pré-Escolar , Colangiopancreatografia Retrógrada Endoscópica/efeitos adversos , Colangiopancreatografia Retrógrada Endoscópica/instrumentação , Bases de Dados Factuais , Feminino , Humanos , Masculino , Pancreatite/diagnóstico por imagem , Pancreatite/etnologia , Pancreatite Crônica/diagnóstico por imagem , Pancreatite Crônica/etnologia , Recidiva , Stents , Fatores de Tempo , Resultado do Tratamento
7.
N Z Med J ; 130(1450): 55-68, 2017 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-28207725

RESUMO

AIM: To determine the incidence of acute pancreatitis (AP), chronic pancreatitis (CP), and post-pancreatitis diabetes mellitus (DP) in New Zealand, and the effect of ethnic and geographic variations. METHODS: Data were collected from all district health boards in New Zealand by the Ministry of Health (Manatu Hauora). Diagnosis of AP, CP and DP was determined by the International Classification of Diseases-10 codes. Incidence rates per 100,000 population per year were calculated using incident AP, CP and DP cases as the numerator, and the adult resident population of New Zealand as the denominator. Poisson distribution was used to estimate 95% confidence intervals. The district health board domicile codes and corresponding incidence rates were used to map geographical variations for AP, CP and DP. RESULTS: On average, 2,072 new cases of AP, CP and DP were diagnosed in New Zealand every year. The crude incidence of AP was 58.42 [57.55, 59.30], CP - 3.97 [3.74, 4.20], and DP - 7.95 [7.62, 8.27] per 100,000 population per year. Maori had the highest incidence of AP (95.21 [91.74, 98.68] per 100,000 population per year), CP (6.27 [5.37, 7.16] per 100,000 population per year), and DP (18.23 [16.71, 19.76] per 100,000 population per year). Incidence of AP and DP was at least 1.8 and 2.6 times higher in Maori than New Zealand Europeans in every age group, and incidence of DP was at least 1.9 times higher in Pacific people than New Zealand Europeans in every age group. Auckland/Northland had the highest incidence of AP (135.25 [134.82, 135.68] per 100,000 population), and CP (9.03 [8.60, 9.46] per 100,000 population), while Lakes/Waikato had the highest incidence of DP (20.64 [20.21, 21.07] per 100,000 population) in New Zealand. CONCLUSIONS: New Zealanders have a very high incidence rate of AP, with Maori having the highest reported incidence of AP worldwide. There is a significant geographic variation in incidence of pancreatic diseases, with the Upper North Island having the highest incidence rates of AP, CP and DP in the country. Future high-quality studies are required to understand the mechanisms of pancreatitis and DP in order to develop preventive and therapeutic strategies that would benefit New Zealanders in general and Maori in particular.


Assuntos
Diabetes Mellitus Tipo 1/epidemiologia , Diabetes Mellitus Tipo 2/epidemiologia , Pancreatite/epidemiologia , Adulto , Distribuição por Idade , Idoso , Estudos de Coortes , Diabetes Mellitus Tipo 1/etnologia , Diabetes Mellitus Tipo 1/etiologia , Diabetes Mellitus Tipo 2/etnologia , Diabetes Mellitus Tipo 2/etiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Nova Zelândia/epidemiologia , Nova Zelândia/etnologia , Pancreatite/complicações , Pancreatite/etnologia , Pancreatite Crônica/complicações , Pancreatite Crônica/epidemiologia , Pancreatite Crônica/etnologia , Características de Residência , Fatores de Risco , Adulto Jovem
8.
Am J Gastroenterol ; 111(10): 1488-1496, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27527745

RESUMO

OBJECTIVES: Racial differences in susceptibility and progression of pancreatitis have been reported in epidemiologic studies using administrative or retrospective data. There has been little study, however, on the clinical profile, causes, and outcome of chronic pancreatitis (CP) in black patients. METHODS: We analyzed data on black patients with CP prospectively enrolled in the multicenter North American Pancreatitis Studies from 26 US centers during the years 2000-2014. CP was defined by definitive evidence on imaging studies or histology. Information on demographics, etiology, risk factors, disease phenotype, treatment, and perceived effectiveness was obtained from responses to detailed questionnaires completed by both patients and physicians. RESULTS: Of the 1,159 patients enrolled, 248 (21%) were black. When compared with whites, blacks were significantly more likely to be male (60.9 vs. 53%), ever (88.2 vs. 71.8%), or current smokers (64.2 vs. 45.9%), or have a physician-defined alcohol etiology (77 vs. 41.9%). There was no overall difference in the duration of CP although for alcoholic CP, blacks had a longer duration of disease (8.6 vs. 6.97 years; P=0.02). Blacks were also significantly more likely to have advanced changes on pancreatic morphology (calcifications (63.3 vs. 55.2%), atrophy (43.2 vs. 34.6%), pancreatic ductal stricture or dilatation (72.6 vs. 65.5%) or common bile duct stricture (18.6 vs. 8.2%)) and function (endocrine insufficiency 39.9 vs. 30.2%). Moreover, the prevalence of any (94.7 vs. 83%), constant (62.6 vs. 51%), and severe (78.4 vs. 65.8%) pain and disability (35.1 vs. 21.4%) were significantly higher in blacks. Observed differences were in part related to variances in etiology and duration of disease. No differences in medical or endoscopic treatments were seen between races although prior cholecystectomy (31.1 vs. 19%) was more common in white patients. CONCLUSIONS: Differences were observed between blacks and whites in the underlying cause, morphologic expression, and pain characteristics of CP, which in part are explained by the underlying risk factor(s) with alcohol and tobacco being much more frequent in black patients as well as disease duration.


Assuntos
Dor Abdominal/etnologia , Negro ou Afro-Americano/estatística & dados numéricos , Doenças do Ducto Colédoco/etnologia , Insuficiência Pancreática Exócrina/etnologia , Pancreatite Alcoólica/etnologia , Pancreatite Crônica/etnologia , Fumar/etnologia , População Branca/estatística & dados numéricos , Adulto , Idoso , Atrofia , Calcinose/etnologia , Constrição Patológica/etnologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Medição da Dor , Pâncreas/patologia , Pancreatopatias/etnologia , Ductos Pancreáticos/patologia , Pancreatite Alcoólica/patologia , Pancreatite Crônica/etiologia , Pancreatite Crônica/patologia , Prevalência , Estudos Prospectivos , Fatores de Risco , Fatores Sexuais , Fatores de Tempo , Adulto Jovem
9.
Hum Mutat ; 37(11): 1149-1152, 2016 11.
Artigo em Inglês | MEDLINE | ID: mdl-27432637

RESUMO

Recently, our resequencing of the promoter region of PRSS1 in French Caucasian individuals led to the identification of a functional variant (c.-204C > A) that is in perfect linkage disequilibrium with the "chronic pancreatitis (CP)-protective" PRSS1 c.-408C > T variant. Here, we extended the resequencing to 626 French Caucasians (242 idiopathic CP patients and 384 controls). We discovered three additional variants (c.-184G > A, c.-173C > T, and c.-147C > T), each being found only once in either patients or controls. We analyzed these three variants, together with a known PRSS1 promoter variant (c.-30_-28delTCC) long considered to be causative for CP, by luciferase promoter reporter assay in AR42J cells treated with dexamethasone. This analysis revealed that c.-30_-28delTCC resulted in reduced rather than increased PRSS1 gene expression, suggesting that it is not a CP risk factor as originally claimed. We provide evidence that c.-147C > T probably confers protection against CP by reducing the affinity of an ATF4 transcription factor binding site.


Assuntos
Pancreatite Crônica/genética , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA/métodos , Tripsina/genética , Linhagem Celular , Feminino , França , Predisposição Genética para Doença , Humanos , Masculino , Pancreatite Crônica/etnologia , Regiões Promotoras Genéticas , Deleção de Sequência , População Branca/genética
10.
Pancreas ; 45(2): 298-305, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26418906

RESUMO

OBJECTIVES: This study aims to evaluate prospectively the safety and efficacy of extracorporeal shock wave lithotripsy (ESWL) in Chinese patients. METHODS: A total of 214 patients with painful chronic pancreatitis and pancreatic stones who underwent ESWL followed by endoscopic retrograde cholangiopancreatography from March 2011 to February 2012 in Changhai Hospital were enrolled. The main pancreatic duct clearance rate and complications were recorded prospectively. Symptoms, weight, quality of life, and pancreatic function were assessed before and after ESWL and endotherapy. RESULTS: A total of 473 ESWL procedures were performed in 214 patients. Stones were fragmented in all cases. Complete clearance of main pancreatic duct stones and successful endoscopic decompression were achieved in 155 (72.4%) and 188 (90.8%) of 214 patients, respectively. Complications were observed after 20 sessions (20 of 473, 4.23%). Follow-up (n = 195) after 18.5 ± 3.3 months showed that complete and partial pain relief were achieved in 71.3% and 24.0% of the patients, respectively. The scores for the quality of life (5.8 ± 1.7 vs 8.1 ± 1.2, P < 0.05) and mental health from the Medical Outcomes Study 36-Item Short-Form General Health Survey questionnaire (62.2 ± 21.5 vs 68.5 ± 16.4, P < 0.05) improved after ESWL. CONCLUSIONS: Thus, ESWL is a safe and effective method to treat Chinese patients with pancreatic stones. This procedure can significantly improve the success rate of endotherapy.


Assuntos
Cálculos/terapia , Litotripsia/métodos , Dor/prevenção & controle , Pancreatopatias/terapia , Dor Abdominal/etiologia , Doença Aguda , Adulto , Povo Asiático , Cálculos/complicações , Cálculos/etnologia , China , Feminino , Seguimentos , Hemorragia/etiologia , Humanos , Litotripsia/efeitos adversos , Masculino , Pessoa de Meia-Idade , Dor/complicações , Dor/etnologia , Pancreatopatias/complicações , Pancreatopatias/etnologia , Testes de Função Pancreática , Pancreatite/etiologia , Pancreatite Crônica/complicações , Pancreatite Crônica/etnologia , Estudos Prospectivos , Qualidade de Vida , Inquéritos e Questionários , Resultado do Tratamento
11.
Pancreas ; 45(7): 992-6, 2016 08.
Artigo em Inglês | MEDLINE | ID: mdl-26692446

RESUMO

OBJECTIVES: The aim of our study was to describe the prevalence, characteristics, and outcomes of children with acute recurrent (ARP) or chronic (CP) pancreatitis with or without mutations in PRSS1, CFTR or SPINK1. METHODS: Retrospective chart review of children with ARP or CP with and without testing for PRSS1, CFTR, and SPINK1. Demographics, clinical features, management, and outcome were collected. Analysis of variance was used to compare continuous variables and χ or Fisher exact test for categorical variables. RESULTS: Ninety-one subjects with ARP (n = 77) or CP (n = 14) were identified and included in this study. Of these, 37 (41%) were male, 44 were white, and 30 were Hispanic. Thirty-three (36%) had at least 1 mutation identified (Pan-Mut): PRSS1 (7), CFTR (21), SPINK1 (3), SPINK/CFTR (2). Thirty-six were tested but had no mutation, and 22 were not tested. The Pan-Mut subjects were more likely to have a family history of pancreatitis but there were no differences in the clinical features, imaging or outcome. CONCLUSIONS: Mutations in CFTR, SPINK1 or PRSS1 are present in one third of pediatric ARP and CP with no other cause. No clinical features or outcomes differentiated between the Pan-Mut group and the no-mutation group. The Pan-Mut subjects were more likely to have a family history of pancreatitis. Pediatric ARP and CP without identified cause should undergo genetic testing.


Assuntos
Predisposição Genética para Doença/genética , Mutação , Pancreatite Crônica/genética , Pancreatite/genética , Doença Aguda , Adolescente , Proteínas de Transporte/genética , Criança , Pré-Escolar , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Feminino , Predisposição Genética para Doença/etnologia , Hispânico ou Latino/genética , Humanos , Lactente , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Pancreatite/etnologia , Pancreatite/cirurgia , Pancreatite Crônica/etnologia , Pancreatite Crônica/cirurgia , Prevalência , Recidiva , Estudos Retrospectivos , Tripsina/genética , Inibidor da Tripsina Pancreática de Kazal , Estados Unidos/epidemiologia , População Branca/genética
12.
Pancreas ; 44(1): 59-63, 2015 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-25058887

RESUMO

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.


Assuntos
Colangiopancreatografia Retrógrada Endoscópica , Pâncreas/cirurgia , Pancreatite Crônica/cirurgia , Adolescente , Adulto , Povo Asiático/genética , Calcinose , Proteínas de Transporte/genética , Criança , China , Regulador de Condutância Transmembrana em Fibrose Cística/genética , Análise Mutacional de DNA , Feminino , Frequência do Gene , Marcadores Genéticos , Predisposição Genética para Doença , Hereditariedade , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Pâncreas/diagnóstico por imagem , Pâncreas/patologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etnologia , Pancreatite Crônica/genética , Linhagem , Fenótipo , Indução de Remissão , Estudos Retrospectivos , Resultado do Tratamento , Tripsina/genética , Inibidor da Tripsina Pancreática de Kazal , Adulto Jovem
13.
Dig Dis Sci ; 60(5): 1297-307, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25492507

RESUMO

BACKGROUND: The cystic fibrosis transmembrane conductance regulator (CFTR) gene, responsible for the development of cystic fibrosis, is known as a pancreatitis susceptibility gene. Direct DNA sequencing of PCR-amplified CFTR gene segments is a first-line method to detect unknown mutations, but it is a tedious and labor-intensive endeavor given the large size of the gene (27 exons, 1,480 amino acids). Next-generation sequencing (NGS) is becoming standardized, reducing the cost of DNA sequencing, and enabling the generation of millions of reads per run. We here report a comprehensive analysis of CFTR variants in Japanese patients with chronic pancreatitis using NGS coupling with target capture. METHODS: Exon sequences of the CFTR gene from 193 patients with chronic pancreatitis (121 idiopathic, 46 alcoholic, 17 hereditary, and nine familial) were captured by HaloPlex target enrichment technology, followed by NGS. RESULTS: The sequencing data covered 91.6 % of the coding regions of the CFTR gene by ≥ 20 reads with a mean read depth of 449. We could identify 12 non-synonymous variants including three novel ones [c.A1231G (p.K411E), c.1753G>T (p.E585X) and c.2869delC (p.L957fs)] and seven synonymous variants including three novel ones in the exonic regions. The frequencies of the c.4056G>C (p.Q1352H) and the c.3468G>T (p.L1156F) variants were higher in patients with chronic pancreatitis than those in controls. CONCLUSIONS: Target sequence capture combined with NGS is an effective method for the analysis of pancreatitis susceptibility genes.


Assuntos
Regulador de Condutância Transmembrana em Fibrose Cística/genética , Variação Genética , Sequenciamento de Nucleotídeos em Larga Escala , Pancreatite Alcoólica/genética , Pancreatite Crônica/genética , Adulto , Povo Asiático/genética , Estudos de Casos e Controles , Feminino , Frequência do Gene , Predisposição Genética para Doença , Humanos , Japão , Masculino , Pancreatite Alcoólica/diagnóstico , Pancreatite Alcoólica/etnologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etnologia , Fenótipo
14.
Pancreas ; 43(3): 451-7, 2014 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-24622078

RESUMO

OBJECTIVE: Most patients with chronic pancreatitis develop intractable abdominal pain and malnutrition. A low-fat diet is one of the options used to manage intractable abdominal pain and malnutrition. However, few reports have examined the pain-suppression effect. To investigate the effects of oral ingestion of a low-fat elemental diet composed of purified amino acids on pain and nutritional status in patients with chronic pancreatitis, a multicenter prospective study was conducted. METHODS: Patients with chronic pancreatitis with symptoms of abdominal pain were enrolled. In addition to meals, patients ingested a low-fat elemental diet composed of purified amino acids for 12 weeks. Before and after treatment, patients were asked to indicate their pain grade using a 100-mm horizontal visual analog scale, and nutritional indices, including body mass index and blood levels of pancreatic enzymes, were measured. RESULTS: A total of 596 patients were eligible for analysis. Marked pain reduction was observed with a significant decrease of the mean visual analog scale score by 32.9 mm from 52.9 mm after 12 weeks (P < 0.001). There were also significant improvements in nutritional indices. CONCLUSIONS: An oral low-fat elemental diet composed of purified amino acids, which requires no special treatment procedures, may improve patients' quality of life.


Assuntos
Dor Abdominal/dietoterapia , Dieta com Restrição de Gorduras/métodos , Alimentos Formulados , Pancreatite Crônica/complicações , Dor Abdominal/etiologia , Administração Oral , Adulto , Idoso , Povo Asiático , Diabetes Mellitus/etiologia , Diarreia/etiologia , Dieta com Restrição de Gorduras/efeitos adversos , Feminino , Humanos , Hiperglicemia/etiologia , Japão , Masculino , Pessoa de Meia-Idade , Estado Nutricional , Medição da Dor , Pancreatite Crônica/etnologia , Estudos Prospectivos , Resultado do Tratamento
15.
JOP ; 15(1): 49-52, 2014 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-24413785

RESUMO

CONTEXT: The major etiologic factor of chronic pancreatitis in adults is excessive alcohol consumption, whereas among children structural anomalies, systemic and metabolic disorders, and genetic factors are prevalent. Mutations in the cationic trypsinogen gene (PRSS1) cause hereditary pancreatitis, while mutations in serine protease inhibitor Kazal type 1 (SPINK1), cystic fibrosis transmembrane conductance regulator (CFTR) and chymotrypsin C (CTRC) genes have been shown to associate with chronic pancreatitis as independent risk factors. CASE REPORT: We present a case of 13-year-old boy with idiopathic chronic pancreatitis. Given the unexplained attacks of pancreatitis since early childhood and despite the negative family history, molecular-genetic analysis of four pancreatitis susceptibility genes (PRSS1, SPINK1, CTRC and CFTR) was performed. The boy was found to carry the c.623G>C (p.G208A) mutation of the PRSS1 gene and the c.180C>T (p.G60G) mutation of the CTRC gene, both in heterozygous state. These mutations are considered as contributing risk factors for chronic pancreatitis. CONCLUSIONS: In children with idiopathic chronic pancreatitis genetic causes should be considered, even in absence of positive family history. To the best of our knowledge, this is the first description of a European patient with chronic pancreatitis associated with the p.G208A mutation of PRSS1 gene. This mutation was previously reported only in Asian subjects and is thought to be a unique genetic cause of pancreatitis in Asia.


Assuntos
Mutação de Sentido Incorreto , Pancreatite Crônica/genética , Tripsina/genética , Adolescente , Diagnóstico por Imagem , Feminino , Predisposição Genética para Doença , Heterozigoto , Humanos , Masculino , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etnologia , Linhagem , Stents , População Branca
17.
Pancreas ; 40(2): 206-12, 2011 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-21404458

RESUMO

OBJECTIVES: The aim of the study was to determine the occurrence and the risk factors of diabetes mellitus (DM) in Chinese patients with chronic pancreatitis (CP), with particular emphasis on those with endoscopic or surgical therapy for CP. METHODS: Four hundred forty-five contacted CP patients in our hospital between January 1, 1997, and July 31, 2007, were followed up. Risk factors for DM were determined in a multivariate analysis after exclusion of 58 patients. RESULTS: The cumulative rate of DM was 51.5% (SD, 8%) at 20 years after the onset of CP and 27.8% (SD, 6%) at 10 years after endotherapy or surgery, without significant difference between the 2 therapies (P = 0.243). The age at the onset of CP (hazard ratio, 1.032; 95% confidential interval, 1.012-1.052), smoking (2.859, 1.448-5.645), chronic pain (0.412, 0.180-0.945), and pancreatic calcifications (2.326, 1.203-4.496) were identified as independent risk factors for developing DM in the patients before any invasive therapy. Smoking (2.203, 1.153-4.209) and distal pancreatectomy (5.412, 2.506-11.690) were the independent risk factors for DM development in patients after invasive therapy. CONCLUSIONS: The risk of DM seems to be mainly caused by progression of CP because it increased with older age, absence of chronic pain, and pancreatic calcifications, whereas this risk is influenced by smoking and distal pancreatectomy.


Assuntos
Povo Asiático/estatística & dados numéricos , Diabetes Mellitus/etnologia , Pancreatite Crônica/etnologia , Adulto , Idade de Início , Calcinose/etnologia , Distribuição de Qui-Quadrado , China/epidemiologia , Endoscopia/efeitos adversos , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Dor/etnologia , Pancreatectomia/efeitos adversos , Pancreatite Crônica/cirurgia , Modelos de Riscos Proporcionais , Medição de Risco , Fatores de Risco , Fumar/etnologia , Fatores de Tempo , Resultado do Tratamento , Adulto Jovem
18.
J Gastroenterol Hepatol ; 24(12): 1862-8, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19793170

RESUMO

BACKGROUND AND AIMS: There is a paucity of literature regarding the clinical profile of chronic pancreatitis (CP) in children. The aims of this retrospective study were to determine the etiology and clinical presentation, and to present our experience in diagnosing CP in children in China. METHODS: Clinical data of children who were treated for CP at Changhai Hospital from January 1997 to August 2006 were reviewed. RESULTS: A total of 427 CP patients presented to our center. There were 42 (9.8%) children with CP, including 21 males and 21 females, with a mean age of 11.7 years at the first onset. The main etiological factor was idiopathic (73.8%). Of the patients, 78.5% had episodes of mild to moderate abdominal pain and 54.8% had multiple (> or = 4) episodes. The mean duration of symptoms prior to the diagnosis was 41.6 months and a definite diagnosis was not made until 2 years later in 57.1% of these patients. The positive rates of ultrasound (US), computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP) (or magnetic resonance imaging [MRI]) for detecting ductal changes and intraductal stones or pancreatic calcification were 51.4% and 45.4%, 71.4% and 87.5%, 80.0% and 61.5%, respectively. CONCLUSION: The main etiological factor of Chinese children with CP is idiopathic. The main symptom in these patients is multiple episodes of mild to moderate abdominal pain, which often lead to a delay in the definite diagnosis. CT and MRCP (or MRI) should be used as the first investigation in the evaluation of these cases.


Assuntos
Povo Asiático , Pancreatite Crônica/etnologia , Dor Abdominal/etnologia , Dor Abdominal/etiologia , Adolescente , Idade de Início , Criança , China/epidemiologia , Colangiopancreatografia Retrógrada Endoscópica , Colangiopancreatografia por Ressonância Magnética , Diagnóstico por Imagem/métodos , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etiologia , Pancreatite Crônica/terapia , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Fatores de Tempo , Tomografia Computadorizada por Raios X
20.
Pancreas ; 38(3): 248-54, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-19034057

RESUMO

OBJECTIVES: A multicenter study was initiated by the Chinese Chronic Pancreatitis Study Group to determine the nature and magnitude of chronic pancreatitis (CP) in China. METHODS: Twenty-two hospitals representing all 6 urban health care regions in China participated in the study. The survey covered a 10-year period from May 1, 1994, to April 30, 2004. Multiple logistic regression was used for analyses. RESULTS: The analysis included 2008 patients (64.99% were men, and 35.01% were female; mean age, 48.9 years [SD, 15.0 years]). Chronic pancreatitis prevalence increased yearly from 1996 to 2003: 3.08, 3.91, 5.28, 7.61, 10.43, 11.92, 12.84, and 13.52 per 100,000 inhabitants. Chronic pancreatitis etiologies were alcohol (35.11%), biliary stones (34.36%), hereditary (7.22%), and idiopathic CP (12.90%). Clinical feature were pain (76.25%), maldigestion (36.11%), jaundice (13.40%), and steatorrhea (6.92%). Complications were pseudocyst (26.25%), diabetes (21.61%), bile duct strictures (13.40%), and ascites (1.74%). With regard to the diagnosis, the sensitivity and specificity of endoscopic ultrasonography and endoscopic retrograde cholangiopancreatography were 88% and 93%, and 87% and 93%, respectively. Three hundred ninety-one patients (19.47%) received endoscopic therapy. Surgery was performed in 239 patients (11.90%). CONCLUSION: In China, the incidence of CP is rising rapidly; alcohol and biliary stones are the main causes. Endoscopic ultrasonography and endoscopic retrograde cholangiopancreatography are highly sensitive and specific diagnostic methods.


Assuntos
Consumo de Bebidas Alcoólicas/etnologia , Cálculos Biliares/etnologia , Pancreatite Crônica/diagnóstico , Pancreatite Crônica/etnologia , Adulto , Povo Asiático/estatística & dados numéricos , China/epidemiologia , Feminino , Humanos , Incidência , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Pancreatite Crônica/cirurgia , Prevalência , Estudos Retrospectivos , Índice de Gravidade de Doença , Distribuição por Sexo
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA
...