Humans ; Infant ; Biliary Atresia/diagnosis* ; Choledochal Cyst/diagnosis* ; RNA, Circular ; Diagnosis, Differential

OBJECTIVE: To study the value of serum gamma-glutamyl transpeptidase (GGT) combined with direct bilirubin (DB) in the diagnosis of biliary atresia. METHODS: A total of 667 infants with cholestasis who were hospitalized and treated from July 2010 to December 2018 were enrolled as subjects. According to the results of intraoperative cholangiography and follow-up, they were divided into biliary atresia group with 234 infants and cholestasis group with 433 infants. The two groups were compared in terms of age of onset, sex, and serum levels of total bilirubin (TB), DB, alanine aminotransferase (ALT), aspartate aminotransferase (AST), total bile acid (TBA), and GGT. A receiver operating characteristic (ROC) curve analysis was performed for indices with statistical significance, and the area under the ROC curve (AUC) and the optimal cut-off value for diagnosis were calculated. RESULTS: The biliary atresia group had a significantly younger age of onset than the cholestasis group (P<0.001). There were no significant differences in sex, ALT, and AST between the two groups (P>0.05), while the biliary atresia group had significantly higher serum levels of TB, DB, TBA, and GGT than the cholestasis group (P<0.05). GGT combined with DB had the highest AUC of 0.892 (95% confidence interval: 0.868-0.916) in the diagnosis of biliary atresia. At the optimal cut-off values of 324.0 U/L for GGT and 115.1 μmmol/L for DB, GGT combined with DB had a sensitivity of 79.8% and a specificity of 83.2% in the diagnosis of biliary atresia. CONCLUSIONS GGT combined with DB has high sensitivity and specificity in the diagnosis of biliary atresia and can be used as an effective indicator for diagnosis of biliary atresia in infants.
Alanine Transaminase ; Aspartate Aminotransferases ; Biliary Atresia ; diagnosis ; Bilirubin ; Humans ; Infant ; gamma-Glutamyltransferase ; blood

PURPOSE: The goal of this study was the early diagnosis of ABCB11 spectrum liver disorders, especially those focused on benign recurrent intrahepatic cholestasis and progressive familial intrahepatic cholestasis. METHODS: Fifty patients presenting neonatal cholestasis were evaluated to identify underlying etiologies. Genetic analysis was performed on patients suspected to have syndromic diseases or ABCB11 spectrum liver disorders. Two families with proven ABCB11 spectrum liver disorders were subjected to genetic analyses to confirm the diagnosis and were provided genetic counseling. Whole exome sequencing and Sanger sequencing were performed on the patients and the family members. RESULTS: Idiopathic or viral hepatitis was diagnosed in 34%, metabolic disease in 20%, total parenteral nutrition induced cholestasis in 16%, extrahepatic biliary atresia in 14%, genetic disease in 10%, neonatal lupus in 2%, congenital syphilis in 2%, and choledochal cyst in 2% of the patients. The patient with progressive familial intrahepatic cholestasis had novel heterozygous mutations of ABCB11 c.11C>G (p.Ser4*) and c.1543A>G (p.Asn515Asp). The patient with benign recurrent intrahepatic cholestasis had homozygous mutations of ABCB11 c.1331T>C (p.Val444Ala) and heterozygous, c.3084A>G (p.Ala1028Ala). Genetic confirmation of ABCB11 spectrum liver disorder led to early liver transplantation in the progressive familial intrahepatic cholestasis patient. In addition, the atypically severe benign recurrent intrahepatic cholestasis patient was able to avoid unnecessary liver transplantation after genetic analysis. CONCLUSION: ABCB11 spectrum liver disorders can be clinically indistinguishable as they share similar characteristics related to acute episodes. A comprehensive genetic analysis will facilitate optimal diagnosis and treatment.
Biliary Atresia ; Choledochal Cyst ; Cholestasis ; Cholestasis, Intrahepatic ; Diagnosis ; Early Diagnosis* ; Exome ; Genetic Counseling ; Hepatitis ; High-Throughput Nucleotide Sequencing ; Humans ; Hyperbilirubinemia ; Jaundice ; Liver Transplantation ; Liver* ; Metabolic Diseases ; Parenteral Nutrition, Total ; Syphilis, Congenital

Inspissated bile syndrome (IBS) is a rare condition in which thick intraluminal bile, including bile plugs, sludge, or stones, blocks the extrahepatic bile ducts in an infant. A 5-week-old female infant was admitted for evaluation of jaundice and acholic stool. Diagnostic tests, including ultrasound sonography, magnetic resonance cholangiopancreatography, and a hepatobiliary scan, were not conclusive. Although the diagnosis was unclear, the clinical and laboratory findings improved gradually on administration of urodeoxycholic acid and lipid emulsion containing omega-3 polyunsaturated fatty acids (PUFAs) for 3 weeks. However, a liver biopsy was suggestive of biliary atresia. This finding forced us to perform intraoperative cholangiography, which revealed a patent common bile duct with impacted thick bile. We performed normal saline irrigation and the symptom was improved, the final diagnosis was IBS. Thus, we herein report that IBS can be treated with omega-3 PUFAs as an alternative to surgical intervention.
Bile Ducts, Extrahepatic ; Bile* ; Biliary Atresia ; Biopsy ; Cholangiography ; Cholangiopancreatography, Magnetic Resonance ; Cholestasis ; Common Bile Duct ; Diagnosis ; Diagnostic Tests, Routine ; Fatty Acids, Omega-3 ; Fatty Acids, Unsaturated* ; Female ; Humans ; Infant ; Jaundice ; Liver ; Sewage ; Ultrasonography

OBJECTIVE: To assess the diagnostic value of various ultrasound (US) findings and to make a decision-tree model for US diagnosis of biliary atresia (BA). MATERIALS AND METHODS: From March 2008 to January 2014, the following US findings were retrospectively evaluated in 100 infants with cholestatic jaundice (BA, n = 46; non-BA, n = 54): length and morphology of the gallbladder, triangular cord thickness, hepatic artery and portal vein diameters, and visualization of the common bile duct. Logistic regression analyses were performed to determine the features that would be useful in predicting BA. Conditional inference tree analysis was used to generate a decision-making tree for classifying patients into the BA or non-BA groups. RESULTS: Multivariate logistic regression analysis showed that abnormal gallbladder morphology and greater triangular cord thickness were significant predictors of BA (p = 0.003 and 0.001; adjusted odds ratio: 345.6 and 65.6, respectively). In the decision-making tree using conditional inference tree analysis, gallbladder morphology and triangular cord thickness (optimal cutoff value of triangular cord thickness, 3.4 mm) were also selected as significant discriminators for differential diagnosis of BA, and gallbladder morphology was the first discriminator. The diagnostic performance of the decision-making tree was excellent, with sensitivity of 100% (46/46), specificity of 94.4% (51/54), and overall accuracy of 97% (97/100). CONCLUSION: Abnormal gallbladder morphology and greater triangular cord thickness (> 3.4 mm) were the most useful predictors of BA on US. We suggest that the gallbladder morphology should be evaluated first and that triangular cord thickness should be evaluated subsequently in cases with normal gallbladder morphology.
Area Under Curve ; Biliary Atresia/*diagnosis/ultrasonography ; Common Bile Duct/ultrasonography ; Decision Making ; Diagnosis, Differential ; Female ; Gallbladder/ultrasonography ; Hepatic Artery/ultrasonography ; Humans ; Infant ; Infant, Newborn ; Jaundice, Obstructive/complications/diagnosis ; Logistic Models ; Male ; Portal Vein/ultrasonography ; ROC Curve ; Retrospective Studies ; Sensitivity and Specificity

Hepatopulmonary syndrome (HPS) is a serious complication of end-stage liver disease, which is characterized by hypoxia, intrapulmonary vascular dilatation, and liver cirrhosis. Liver transplantation (LT) is the only curative treatment modality for patients with HPS. However, morbidity and mortality after LT, especially in cases of severe HPS, remain high. This case report describes a patient with typical findings of an extracardiac pulmonary arteriovenous shunt on contrast-enhanced transesophageal echocardiography (TEE), and clubbing fingers, who had complete correction of HPS by deceased donor LT. The patient was a 16-year-old female who was born with biliary atresia and underwent porto-enterostomy on the 55th day after birth. She had been suffered from progressive liver failure with dyspnea, clubbing fingers, and cyanosis. Preoperative arterial blood gas analysis revealed severe hypoxia (arterial O2 tension of 54.5 mmHg and O2 saturation of 84.2%). Contrast-enhanced TEE revealed an extracardiac right-to-left shunt, which suggested an intrapulmonary arteriovenous shunt. The patient recovered successfully after LT, not only with respect to physical parameters but also for pychosocial activity, including school performance, during the 30-month follow-up period.
Adolescent ; Anoxia ; Arteriovenous Fistula/etiology ; Biliary Atresia/*diagnosis/etiology ; Cyanosis/complications ; Dyspnea/complications ; Echocardiography, Transesophageal ; End Stage Liver Disease/complications/*surgery ; Female ; Hepatic Artery/abnormalities ; Hepatopulmonary Syndrome/*diagnosis/ultrasonography ; Humans ; *Liver Transplantation ; Osteoarthropathy, Secondary Hypertrophic/complications

OBJECTIVETo summarize the clinical characteristics, early diagnosis, comprehensive treatment and prognosis of 6 cases of children with post-transplantation lymphoproliferative disorder (PTLD) after liver transplantation.

METHODData of 6 cases with PTLD seen between January 2011 and December 2013 were retrospectively analyzed. The anti-rejection drug dose adjustments, the effect of rituximab, antiviral therapy and comprehensive treatment program after surgery were explored.

RESULT(1) The diagnosis of PTLD was confirmed by histologic findings. Six cases of PTLD including 3 males and 3 females were diagnosed as congenital biliary atresia and underwent split liver transplantation. The occurrence rate of PTLD was 2.9%. (2) The median time to the development of PTLD was less than 6 months. The initial symptom of PTLD in all patients was fever and clinical manifestations of PTLD were non-specific, depending on the involving organs. Five cases of PTLD developed gastrointestinal symptoms, including diarrhea, abdominal pain, and abdominal distension. One case developed respiratory symptoms, including cough and tachypnea. Three cases had lymph node involvement. In 2 cases pathophysiology involved polymorphic lymphocyte proliferation and in 4 cases B lymphocyte proliferation. (3) Two cases died, in whom EBV DNA was not detected and were diagnosed as PTLD by surgical pathology before death. Four survived cases had high EBV-DNA load and then were diagnosed as PTLD by biopsy pathology. (4) Of the 6 cases of PTLD, 2 cases died and 4 cases survived. The overall mortality was 33%. The dead cases were only treated with laparotomy because of intestinal obstruction or perforation and the survived cases were treated with tacrolimus at reduced doses or discontinuation and rituximab. In 2 cases antiviral therapy (acyclovir) was continued, including 1 cases of intestinal obstruction treated with surgical repair. All the survived patients were followed up for 4 months to 1 year and no evidence has been found.

CONCLUSIONEBV infection is the high risk factor for PTLD after liver transplantation. Close clinical surveillance of EBV DNA for pediatric liver transplantation was important for the early diagnosis of PTLD. Reducing doses of immunosuppressive agents and rituximab is the initial therapy for PTLD. A reduction in the dose of tacrolimus is suggested. Operation therapy can also play a role in the management of local complications.

Antiviral Agents ; administration & dosage ; Biliary Atresia ; therapy ; DNA, Viral ; analysis ; Drug Therapy, Combination ; Early Diagnosis ; Epstein-Barr Virus Infections ; diagnosis ; therapy ; Female ; Humans ; Immunosuppressive Agents ; administration & dosage ; adverse effects ; Infant ; Liver Transplantation ; adverse effects ; Lymphoproliferative Disorders ; diagnosis ; etiology ; mortality ; therapy ; Male ; Pediatrics ; Postoperative Complications ; Retrospective Studies ; Survival Rate ; Tacrolimus ; administration & dosage

A 4-week-old infant presented with a coagulation disorder resulting from a vitamin K deficiency. The vitamin K deficiency was caused by neonatal cholestasis due to biliary atresia. Jaundice, hepatomegaly and pale stools are the predominant presenting symptoms of biliary atresia, none of which were recognized in our patient before admission. However, the patient presented with bleeding caused by vitamin K deficiency. She was fully breastfed and had received adequate doses of vitamin K at birth and from the age of 1 week. In case of a hemorrhagic diathesis due to neonatal cholestasis, timely identification of treatable underlying disorders, in particular biliary atresia, is important because an early surgical intervention results in a better prognosis. Meticulous history taking and a thorough physical exam can be decisive for an early diagnosis and subsequent intervention.
Biliary Atresia ; Cholestasis* ; Early Diagnosis ; Hemorrhage ; Hemorrhagic Disorders* ; Hepatomegaly ; Humans ; Infant ; Jaundice ; Parturition ; Prognosis ; Vitamin K ; Vitamin K Deficiency

PURPOSE: The aim of this study was to compare the efficacy and safety of band ligation and injection sclerotherapy in the endoscopic treatment of children with variceal bleeding. METHODS: The study population included 55 children, all of whom were treated at the time of endoscopic diagnosis of esophageal varices at Asan Medical Center, Seoul, Korea, between January 1994 and January 2011. The primary outcomes included initial success rates and duration of hemostasis after endoscopic management (band ligation vs. injectionsclerotherapy). RESULTS: The mean age was 6.7+/-5.2 years and the mean follow-up time was 5.4+/-3.7 years. The most common cause of esophageal varices was biliary atresia. Of 55 children with acute variceal bleeding, 39 had band ligation and 16 had injection sclerotherapy. No differences between groups were observed in terms of the size, location, and presence of red color sign. The success rates of band ligation and sclerotherapy in the control of acute bleeding episodes were 89.7% and 87.5%. The mean duration of hemostasis after endoscopic intervention was 13.2+/-25.1 months. After one year, 19 of 39 patients (48.7%) treated with band ligation and 7 of 16 patients (43.8%) with injection sclerotherapy had experienced rebleeding episodes. Complications after the procedures were observed in 10.3% and 18.8% of children treated with band ligation and injection sclerotherapy. CONCLUSION: The results of our current study suggest that band ligation and injection sclerotherapy are equally efficient treatments for the control of acute variceal bleeding and prevention of rebleeding.
Biliary Atresia ; Child* ; Chungcheongnam-do ; Diagnosis ; Endoscopy, Gastrointestinal ; Esophageal and Gastric Varices* ; Follow-Up Studies ; Hemorrhage ; Hemostasis ; Humans ; Hypertension, Portal* ; Korea ; Ligation ; Sclerotherapy ; Seoul

Biliary Atresia ; diagnosis ; etiology ; therapy ; Bilirubin ; blood ; Biomarkers ; blood ; Calcium-Binding Proteins ; deficiency ; Cholangiopancreatography, Magnetic Resonance ; Cholestasis, Intrahepatic ; diagnosis ; etiology ; therapy ; Citrullinemia ; diagnosis ; etiology ; therapy ; DNA Mutational Analysis ; Humans ; Infant ; Jaundice ; diagnosis ; etiology ; therapy ; Liver Function Tests ; Male ; Mitochondrial Membrane Transport Proteins ; genetics ; Mutation ; Organic Anion Transporters ; deficiency