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*

Benign recurrent intrahepatic cholestasis (BRIC), a rare cause of cholestasis, is characterized by recurrent episodes of cholestasis without permanent liver damage. BRIC type 2 (BRIC2) is an autosomal recessive disorder caused by ABCB11 mutations. A 6-year-old girl had recurrent episodes of jaundice. At two months of age, jaundice and hepatosplenomegaly developed. Liver function tests showed cholestatic hepatitis. A liver biopsy revealed diffuse giant cell transformation, bile duct paucity, intracytoplasmic cholestasis, and periportal fibrosis. An ABCB11 gene study revealed novel compound heterozygous mutations, including c.2075+3A>G in IVS17 and p.R1221K. Liver function test results were normal at 12 months of age. At six years of age, steatorrhea, jaundice, and pruritus developed. Liver function tests improved following administration of phenylbutyrate and rifampicin. Her younger brother developed jaundice at two months of age and his genetic tests revealed the same mutations as his sister. This is the first report of BRIC2 confirmed by ABCB11 mutations in Korean siblings.
Bile Ducts ; Biopsy ; Child ; Cholestasis ; Cholestasis, Intrahepatic ; Female ; Fibrosis ; Giant Cells ; Hepatitis ; Humans ; Jaundice ; Liver ; Liver Function Tests ; Pruritus ; Rifampin ; Siblings ; Steatorrhea

Progressive familial intrahepatic cholestasis (PFIC) is a group of severe genetic disorders, inherited in an autosomal recessive manner, causing cholestasis of hepatocellular origin, later progressing to biliary cirrhosis and liver failure. This is the first report of PFIC type 1 with novel compound heterozygous mutations in Korea. The patient was presented with intrahepatic cholestasis, a normal level of serum γ-glutamyl transferase, steatorrhea, and growth failure. Genetic testing of this patient revealed novel compound heterozygous mutations (p.Glu585Ter and p.Leu749Pro) in the ATP8B1 gene. After a liver transplantation at age 19 months, the patient developed severe post-transplant steatohepatitis.
Child ; Cholestasis ; Cholestasis, Intrahepatic ; Fatty Liver ; Genetic Testing ; Humans ; Korea ; Liver Cirrhosis, Biliary ; Liver Failure ; Liver Transplantation ; Steatorrhea ; Transferases

Chylomicron retention disease, also known as Anderson's disease, is a rare hereditary hypocholesterolemic disorder, recessive inherited, characterized by nonspecific symptoms as abdominal distension, steatorrhea, and vomiting associated with failure to thrive. We describe a patient with failure to thrive, chronic diarrhea and steatorrhea who the diagnosis of chylomicron retention disease was established after several months of disease progression. The genetic study confirmed a homozygosity mutation in SAR1B gene, identifying a mutation never previous described [c.83_84delTG(p.Leu28Argfs*7)]. With this case report the authors aim to highlight for this very rare cause of failure to thrive and for the importance of an attempting diagnosis, in order to start adequate management with low fat diet supplemented with fat-soluble vitamins, reverting the state of malnutrition and avoiding possible irreversible and desvantating complications.
Diagnosis ; Diarrhea ; Diet ; Disease Progression ; Failure to Thrive ; Humans ; Malnutrition ; Rare Diseases* ; Steatorrhea ; Vitamins ; Vomiting

Chronic pancreatitis is a debilitating disease characterized by abdominal pain, exocrine insufficiency, and diabetes mellitus and has had great social, economic, and psychological impacts. Traditional definition of chronic pancreatitis has been based on irreversible histological findings such as self-sustaining chronic inflammation, fibrosis, and eventual destruction of ductal, exocrine, and endocrine tissues. In contrast, the traditional characteristics of acute pancreatitis have been thought as a complete recovery of pancreatic function and morphology during the convalescence period. Acute and chronic pancreatitis have been considered separated disease entities. However, the current idea regarding the natural course of pancreatitis is that acute pancreatitis can progress to the intermediate step of recurrent acute pancreatitis, and finally to chronic pancreatitis. This evolution can be characterized by a sequence of necrotic and fibrotic events, or described by sentinel acute pancreatitis event (SAPE) hypothesis. Therefore, chronic pancreatitis is better defined as a progressive inflammatory and fibrotic disease of the pancreas with clinical features of abdominal pain, malnutrition, diabetes mellitus and imaging features of pancreatic parenchymal/ductal calcifications. The complications of chronic pancreatitis include pseudocyst, pseudoaneurysm, fistula, biliary stricture, and duodenal stricture. This review describes the progression from acute to chronic pancreatitis, the mechanisms and nature of abdominal pain, steatorrhea, pancreatogenic diabetes mellitus, pseudocyst, pseudoaneurysm, and biliary stricture associated with chronic pancreatitis.
Abdominal Pain ; Aneurysm, False ; Biliary Fistula ; Constriction, Pathologic ; Convalescence ; Diabetes Mellitus ; Fibrosis ; Inflammation ; Malnutrition ; Natural History* ; Pancreas ; Pancreatitis ; Pancreatitis, Chronic* ; Steatorrhea

The main treatment strategies for chronic pancreatitis in young patients include therapeutic endoscopic retrograde cholangio-pancreatography (ERCP) intervention and surgical intervention. Therapeutic ERCP intervention is performed much more extensively for its minimally invasive nature, but a part of patients are referred to surgery at last. Historical and follow-up data of 21 young patients with chronic pancreatitis undergoing duodenum-preserving total pancreatic head resection were analyzed to evaluate the outcomes of therapeutic ERCP intervention and surgical intervention in this study. The surgical complications of repeated therapeutic ERCP intervention and surgical intervention were 38% and 19% respectively. During the first therapeutic ERCP intervention to surgical intervention, 2 patients developed diabetes, 5 patients developed steatorrhea, and 5 patients developed pancreatic type B pain. During the follow-up of surgical intervention, 1 new case of diabetes occurred, 1 case of steatorrhea recovered, and 4 cases of pancreatic type B pain were completely relieved. In a part of young patients with chronic pancreatitis, surgical intervention was more effective than therapeutic ERCP intervention on delaying the progression of the disease and relieving the symptoms.
Adolescent ; Adult ; Cholangiopancreatography, Endoscopic Retrograde ; adverse effects ; methods ; Diabetes Mellitus ; etiology ; Female ; Follow-Up Studies ; Humans ; Male ; Pain, Postoperative ; etiology ; Pancreatectomy ; adverse effects ; methods ; Pancreatitis, Chronic ; surgery ; Postoperative Complications ; etiology ; Steatorrhea ; etiology ; Treatment Outcome ; Young Adult

Renal cell carcinoma (RCC) is the second most common urological malignancy and it has diverse range of clinical manifestation. One third of the patients show the metastasis at the time of the diagnosis. The common sites of metastasis are the lung, bone, lymph nodes and metastasis to the pancreas is rare. In case of pancreatic metastasis, more than half of the patients are asymptomatic. Patients with symptoms visit hospital complaining of abdominal pain, weight loss, steatorrhea and rarely biliary obstruction. Although about 40% of all patients visit hospital with hemorrhage, cholangitis caused by spontaneous pancreatic hemorrhage is rare. We report an interesting case of 61-year-old woman with cholangitis caused by bleeding due to pancreatic metastasis from renal cell carcinoma.
Abdominal Pain ; Carcinoma, Renal Cell* ; Cholangitis* ; Diagnosis ; Female ; Hemorrhage* ; Humans ; Lung ; Lymph Nodes ; Middle Aged ; Neoplasm Metastasis ; Pancreas* ; Steatorrhea ; Weight Loss

Chronic pancreatitis is an inflammatory disease characterized by the progressive destruction of pancreatic tissue and resulting in pancreatic exocrine and endocrine insufficiency. Although a lot of efforts have been made in managing chronic pancreatitis, treatment of chronic pancreatitis is still challenging and remains mostly empirical. Medical treatment of chronic pancreatitis focuses on chronic abdominal pain, pancreatic exocrine insufficiency and also pancreatic endocrine insufficiency. Chronic disabling abdominal pain is the main symptom of chronic pancreatitis, which could be managed by analgesics and non-enteric coated pancreatic enzymes as well as adjunctive agents such as antidepressants, duolexitine and pregabalin. Pancreatic exocrine insufficiency is commonly associated with weight loss, steatorrhea and malnutrition. Adequate pancreatic enzyme replacement therapy can significantly improve not only exocrine insufficiency related symptoms but also nutritional status. Several problems affecting the efficacy of pancreatic enzyme replacement can be avoided by the use of enteric-coated enzyme microspheres with or without proton pump inhibitors.
Abdominal Pain ; Analgesics ; Antidepressive Agents ; Enzyme Replacement Therapy ; Exocrine Pancreatic Insufficiency ; gamma-Aminobutyric Acid ; Malnutrition ; Microspheres ; Nutritional Status ; Pancreatitis, Chronic ; Proton Pump Inhibitors ; Steatorrhea ; Weight Loss ; Pregabalin

Cystic fibrosis (CF) is an autosomal recessive disease that is very rare in Asians: only a few cases have been reported in Korea. We treated a female infant with CF who had steatorrhea and failure to thrive. Her sweat chloride concentration was 102.0 mM/L. Genetic analysis identified two novel mutations including a splice site mutation (c.1766+2T>C) and a frameshift mutation (c.3908dupA; Asn1303LysfsX6). Pancreatic enzyme replacement and fat-soluble vitamin supplementation enabled the patient to get a catch-up growth. This is the first report of a Korean patient with CF demonstrating pancreatic insufficiency. CF should therefore be considered in the differential diagnosis of infants with steatorrhea and failure to thrive.
Alternative Splicing ; Base Sequence ; Cystic Fibrosis/complications/diagnosis/*genetics ; Cystic Fibrosis Transmembrane Conductance Regulator/*genetics ; Diagnosis, Differential ; Exocrine Pancreatic Insufficiency/complications/diagnosis/*genetics ; Female ; Frameshift Mutation ; Humans ; Infant ; Republic of Korea ; Steatorrhea/diagnosis

Pancreaticoduodenectomy is the treatment of choice for adult periampullary lesions. However there has been no studies on the clinical outcomes of pancreaticoduodenectomy in children. To evaluate the clinical outcomes, records of 13 patients who underwent pancreaticoduodenectomy, from 1989 to 2009, at Seoul National University Children's Hospital were reviewed. Mean follow up period was 83 (2-204) months, the male to female ratio was 1:3.3, and the mean age was 11 (2-14) years. Ten patients underwent PPPD and 3 patients had Whipple's operation. The postoperative diagnosis included solid pseudopapillary tumor (9), cavernous hemangioma (1), pseudocyst (1), benign cyst (1), pancreatic disruption (1). Two patients developed postoperative adhesive ileus and among them one patient required operative intervention. Four patients required pancreatin supplementation due to steatorrhea and other gastrointestinal symptoms. There were no postoperative mortality during the follow up period and no evidence of recurrence in SPT patients. This study demonstrates that the pancreaticoduodenectomy procedure in children is not only feasible but also safe, with no mortality and an acceptable complication rate.
Adhesives ; Adult ; Child ; Female ; Follow-Up Studies ; Hemangioma, Cavernous ; Humans ; Ileus ; Male ; Pancreaticoduodenectomy ; Pancreatin ; Recurrence ; Steatorrhea