Humans ; Child ; Immunoglobulin G ; Autoimmune Diseases ; Hepatitis, Autoimmune ; Pancreatic Diseases ; Pancreatic Neoplasms

OBJECTIVE: To explore the characteristics of Shwachman-Diamond syndrome (SDS) in Chinese children in order to provide a reference for early diagnosis. METHODS: With Shwachman-Diamond syndrome, SDS, SBDS gene and inherited bone marrow failure as the keywords, the search period was set from January 2002 to October 2022. Relevant literature was retrieved from the Wanfang Database and China National Knowledge Infrastructure (CNKI) database. In addition, by using Shwachman-diamond syndrome as a keyword, the search period was also retrieved from the Web of Science, PubMed, and MEDLINE databases from January 2002 to October 2022. A child with SDS treated at the Tongji Hospital was also included. A total of 44 cases with complete clinical data were analyzed with reference to the International Standard for SDS Diagnosis. Chi-square test and t test were used for statistical analysis. Evidence-based research was carried out in the form of systematic review. The epidemiology, clinical characteristics and key points of early diagnosis of the Chinese SDS children were summarized and compared with the international data. RESULTS: The main characteristics of SDS in Chinese children were summarized as follows: The ratio of males to females was about 1.3 : 1, the median age of onset was 3 months, and the median age of diagnosis was 14 months. The first symptoms were often exocrine pancreatic insufficiency (31.8%) and granulocytopenia with infection (31.8%). According to the international consensus, the incidence rates of the three major diseases of SDS were hemocytopenia (95.4%), pancreatic disease (72.7%), and bone abnormality (40.9%). The common factors underlying SDS disease were variants of the SBDS gene (c.258+2T>C and c.183_184TA>CT), albeit there was no significant correlation between genotype and phenotype (P > 0.05). Compared with international reports, the clinical manifestations and genotypes of Chinese SDS children are different (P < 0.05). CONCLUSION The SDS children have an early age of onset and significant individual difference. It is necessary to analyze the case-related data to facilitate early recognition, diagnosis and clinical intervention.
Female ; Humans ; Male ; Bone Marrow Diseases/therapy* ; China ; East Asian People ; Exocrine Pancreatic Insufficiency/therapy* ; Shwachman-Diamond Syndrome/therapy*

Objective: To analyze the therapeutic effect and safety of pancreatic extracorporeal shock wave lithotripsy(P-ESWL) for patients with chronic pancreatitis complicated by stones of the pancreatic duct and to investigate the influencing factors. Methods: A retrospective analysis was performed on clinical data from 81 patients with chronic pancreatitis complicated by pancreatic duct calculus treated with P-ESWL in the Department of Hepatobiliary Surgery, the First Affiliated Hospital of Xi 'an Jiaotong University from July 2019 to May 2022. There were 55 males(67.9%) and 26 females(32.1%). The age was (47±15)years (range: 17 to 77 years). The maximum diameter(M(IQR)) of the stone was 11.64(7.60) mm, and the CT value of the stone was 869 (571) HU. There were 32 patients (39.5%) with a single pancreatic duct stone and 49 patients(60.5%) with multiple pancreatic duct stones. The effectiveness, remission rate of abdominal pain, and complications of P-ESWL were evaluated. Student's t test, Mann Whitney U test, χ² test, or Fisher's exact test was used to compare the characteristics between the effective and ineffective groups of lithotripsy. The factors influencing the effect of lithotripsy were analyzed by univariate and multivariate logistic regression analysis. Results: Eighty-one patients with chronic pancreatitis were treated with P-ESWL 144 times, with an average of 1.78 (95%CI:1.60 to 1.96) times per person. Among them, 38 patients(46.9%) were treated with endoscopy. There were 64 cases(79.0%) with effective removal of pancreatic duct calculi and 17 cases(21.0%) with ineffective removal. Of the 61 patients with chronic pancreatitis accompanied by abdominal pain, 52 cases(85.2%) had pain relief after lithotripsy. After lithotripsy treatment, 45 patients(55.6%) developed skin ecchymosis, 23 patients(28.4%) had sinus bradycardia, 3 patients(3.7%) had acute pancreatitis, 1 patient(1.2%) had a stone lesion, and 1 patient(1.2%) had a hepatic hematoma. Univariate and multivariate logistic regression analysis showed that the factors affecting the efficacy of lithotripsy included the age of patient(OR=0.92, 95%CI: 0.86 to 0.97), the maximum diameter of the stone(OR=1.12,95%CI:1.02 to 1.24) and the CT value of the stone(OR=1.44, 95%CI: 1.17 to 1.86). Conclusions: P-ESWL is effective in the treatment of patients with chronic pancreatitis complicated by calculi of the main pancreatic duct.Factors affecting the efficacy of lithotripsy include patient's age, maximum stone diameter, and CT value of calculi.
Male ; Female ; Humans ; Retrospective Studies ; Acute Disease ; Treatment Outcome ; Calculi/pathology* ; Lithotripsy ; Pancreatitis, Chronic/pathology* ; Pancreatic Diseases/complications* ; Pancreatic Ducts ; Abdominal Pain/therapy*

Objective: To investigate the clinical phenotypes and genotypic spectrum of exocrine pancreatic insufficiency in children with cystic fibrosis. Methods: This was a retrospective analysis of 12 children with cystic fibrosis who presented to Children's Hospital of Fudan University from December 2017 to December 2021. Clinical features, fecal elastase-1 level, genotype, diagnosis and treatment were systematically reviewed. Results: A total of 12 children, 7 males and 5 females, diagnosis aged 5.4 (2.0, 10.6) years, were recruited. Common clinical features included chronic cough in 12 cases, malnutrition in 7 cases, steatorrhea in 7 cases, bronchiectasis in 5 cases and electrolyte disturbance in 4 cases. Exocrine pancreatic insufficiency were diagnosed in 8 cases,the main clinical manifestations were steatorrhea in 7 cases, of which 5 cases started in infancy; 6 cases were complicated with malnutrition, including mild in 1 case, moderate in 2 cases and severe in 3 cases; 3 cases had abdominal distension; 2 cases had intermittent abdominal pain; 4 cases showed fatty infiltration or atrophy of pancreas and 3 cases showed no obvious abnormality by pancreatic magnetic resonance imaging or B-ultrasound. All 8 children were given pancreatic enzyme replacement therapy, follow-up visit of 2.3 (1.2,3.2) years. Diarrhea significantly improved in 6 cases, and 1 case was added omeprazole due to poor efficacy. A total of 20 variations of CFTR were detected in this study, of which 7 were novel (c.1373G>A,c.1810A>C,c.270delA,c.2475_2478dupCGAA,c.2489_c.2490insA, c.884delT and exon 1 deletion). Conclusions: There is a high proportion of exocrine pancreatic insufficiency in Chinese patients with cystic fibrosis. The main clinical manifestations are steatorrhea and malnutrition. Steatorrhea has often started from infancy. Pancreatic enzyme replacement therapy can significantly improve the symptoms of diarrhea and malnutrition.
Cystic Fibrosis/genetics* ; Diarrhea/complications* ; Exocrine Pancreatic Insufficiency/genetics* ; Female ; Genotype ; Humans ; Male ; Malnutrition/complications* ; Pancreatic Diseases/genetics* ; Phenotype ; Retrospective Studies ; Steatorrhea/genetics*

Objective: To investigate the efficacy and safety of endoscopic retrograde cholangiopancreatography (ERCP) in the diagnosis and treatment of biliary and pancreatic diseases in children. Methods: The clinical data of 127 children who were treated with ERCP in the First Affiliated Hospital of Nanchang University from January 2007 to July 2021 were analyzed. According to the diseases they suffered from, the children were divided into biliary group and pancreatic group. The operation times, technical success rate, diagnosis, interventions and post-ERCP complications between the groups were compared by t-test or χ² test. The risk factors of post-ERCP pancreatitis (PEP) were analyzed by multivariate Logistic regression. Results: A total of 127 children, including 54 males and 73 females, with a median age of 14 years at first ERCP, were included in this study. ERCP was performed in 181 cases, with a success rate of 98.3% (178/181). In pre-ERCP imaging examination, the positive diagnostic rates of ultrasound, CT and magnetic resonance cholangiopancreatography (MRCP) for biliary and pancreatic diseases were 54.1% (53/98), 56.1% (37/66) and 79.3% (88/111), respectively. MRCP had the highest positive diagnostic rate, and the difference among the three measures was statistically significant (χ²=17.33, P<0.001). The most common indications for ERCP in biliary and pancreatic diseases were choledocholithiasis (77.0%, 107/139) and congenital structural abnormalities of the pancreas (31.0%, 13/42), respectively. After ERCP, the abdominal pain was dramatically relieved and the liver function was significantly improved (all P<0.001). The blood amylase level of the children with pancreatic diseases was significantly lower than that before ERCP (t=7.73, P<0.001). The overall incidence of post-ERCP complications was 12.2% (22/181), of which post-ERCP pancreatitis (PEP) was the most common (7.2%, 13/181). The incidence of PEP was significantly higher in the pancreatic group than in the biliary group (16.7% (7/42) vs. 4.3% (6/139),χ²=7.38, P=0.007). Multivariate Logistic regression analysis showed that young age was the independent risk factor of PEP (OR=0.80, 95%CI 0.67-0.96). Conclusions: MRCP is the first choice for pre-ERCP imaging examination of biliary and pancreatic diseases in children. ERCP can be safely and effectively used in the diagnosis and treatment of biliary and pancreatic diseases in children, with a high success rate and obvious alleviation of symptoms.
Child ; Female ; Male ; Humans ; Adolescent ; Cholangiopancreatography, Endoscopic Retrograde/adverse effects* ; Pancreatic Diseases/surgery* ; Cholangiopancreatography, Magnetic Resonance ; Pancreas/surgery* ; Pancreatitis/etiology*

Pancreatic panniculitis (PP) is a necrotizing inflammation of subcutaneous fat that is a rare complication of pancreatic disease appearing in 2% to 3% of all patients. It is more common in the elderly and often affects the extremities. It presents as skin inflammation with pain and erythema nodules. We report a case of acute pancreatitis associated with PP in an old female. She was admitted for vomiting and abdominal pain for 3 days and presented with a 2-week history of erythematous subcutaneous nodules on her legs. Laboratory and ultrasonic findings revealed acute pancreatitis. High frequency ultrasound showed hypoechoic foci in subcutaneous soft tissue layer and adipose layer. Histopathological examination confirmed the diagnosis of PP. Nodules disappeared with the resolution of acute pancreatic inflammation. PP may be the first manifestation of pancreatic disease. Imaging features of this pathology are seldom described and ultrasonic diagnosis experience is worth to be accumulated.
Acute Disease ; Aged ; Female ; Humans ; Inflammation/complications* ; Pancreatic Diseases/diagnostic imaging* ; Pancreatitis/diagnostic imaging* ; Panniculitis/etiology* ; Ultrasonography

IgG4-related disease (IgG4-RD) is an immune-mediated condition associated with chronic fibroinflammatory lesions that can affect nearly any organ. IgG4-related hepatobiliary and pancreatic diseases are IgG4-RD involving the hepatobiliary and pancreatic system, which is characterized with elevated serum IgG4 concentrations, large numbers of IgG4 positive lymphoplasma cells infiltration in affected organs, storiform fibrosis, and imaging changes of organ morphology. Due to the lack of reliable biomarkers, histopathology is still an important basis for diagnosis. The pathogenesis of IgG4-related hepatobiliary and pancreatic diseases has not been clarified. This review focuses on the recent advances in intestinal microecology-immunology, host genetics-immunity and recurrence monitoring of IgG4-related hepatobiliary and pancreatic diseases.
Autoimmune Diseases/diagnosis* ; Gastrointestinal Microbiome ; Humans ; Immunoglobulin G ; Immunoglobulin G4-Related Disease/pathology* ; Pancreatic Diseases

Digital medicine has gone through more than 20 years in China.Digital intelligent technologies such as three-dimensional(3D) visualization, virtual reality, augmented reality and mixed reality have been gradually promoted and applied in pancreatic diseases, constantly affecting and changing the traditional mode of diagnosis and treatment of pancreatic diseases to digital intelligent mode.In order to better standardize the digital intelligent diagnosis and treatment of pancreatic diseases, on the basis of the "Expert consensus of precise diagnosis and treatment for pancreatic head cancer using three-dimensional visualization technology", Pancreatic Surgery Group of Surgery Branch of Chinese Medical Association, and Digital Medical Branch of Chinese Medical Association,etc., organized domestic experts engaged in this field to formulate this expert consensus, focusing on revisions and supplements to introduce in detail the quality of 3D visualization, virtual reality, augmented reality, mixed reality and navigational surgery in the diagnosis and treatment of pancreatic surgical diseases.The control system and key points of clinical application are provided for the reference of pancreatic surgeons who are currently developing or preparing to develop digital intelligent technology, so as to better standardize and promote the clinical application of this technology.
Consensus ; Humans ; Imaging, Three-Dimensional/methods* ; Pancreatic Diseases ; Pancreatic Neoplasms/surgery*

OBJECTIVE: To analyze the clinical and genetic characteristics of a boy featuring unexplained developmental delay, malnutrition and distinct facial appearance. METHODS: Physical examination was carried out for the child. Peripheral blood samples were collected from the child and his parents for the extraction of genomic DNA and trio-whole exome sequencing. Candidate variants were verified by Sanger sequencing. RESULTS: The patient had facial dysmorphism including nasal alae aplasia, scalp defect and teeth deformities, in addition with recurrent diarrhea due to pancreatic exocrine insufficiency. DNA sequencing revealed that he has harbored compound heterozygous variants of the UBR1 gene, namely c.3167C>G (p.S1056X) and c.1911+14C>G, which were inherited from his father and mother, respectively. Database search has suggested the c.3167C>G to be a novel nonsense variant and c.1911+14C>G a known splicing variant. Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were predicted to be pathogenic and likely pathogenic, respectively. CONCLUSION The child was diagnosed with Johanson-Blizzard syndrome due to the compound heterozygous variants of the UBR1 gene. Above finding has enriched the mutational spectrum of the UBR1 gene and provided a basis for genetic counseling for this family.
Child ; Humans ; Male ; Ectodermal Dysplasia/genetics* ; Pancreatic Diseases/genetics* ; Ubiquitin-Protein Ligases/genetics*

Kawasaki disease is a form of vasculitis, mainly in small and medium arteries of unknown origin, occurring frequently in childhood. It is the leading form of childhood-onset acquired heart disease in developed countries and leads to complications of coronary artery aneurysms in approximately 25% of cases if left untreated. Although more than half a century has passed since Professor Tomisaku Kawasaki's first report in 1957, the cause is not yet clear. Currently, intravenous immunoglobulin therapy has been established as the standard treatment for Kawasaki disease. Various treatment strategies are still being studied under the slogan, “Ending powerful inflammation in the acute phase as early as possible and minimizing the incidence of coronary artery lesions,” as the goal of acute phase treatments for Kawasaki disease. Currently, in addition to immunoglobulin therapy, steroid therapy, therapy using infliximab, biological products, suppression of elastase secretion inside and outside the neutrophils, inactivated ulinastatin therapy and cyclosporine therapy, plasma exchange, etc. are performed. This chapter outlines the history and transition of the acute phase treatment for Kawasaki disease.
Aneurysm ; Arteries ; Biological Products ; Coronary Vessels ; Cyclosporine ; Developed Countries ; Heart Diseases ; Immunization, Passive ; Incidence ; Inflammation ; Infliximab ; Mucocutaneous Lymph Node Syndrome ; Neutrophils ; Pancreatic Elastase ; Plasma Exchange ; Prednisolone ; Vasculitis