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Multiple causes of congenital neonatal cholestasis have been identified, and are classified as extrahepatic or intrahepatic. Biliary atresia (BA), Alagille syndrome (AGS), and progressive familial intrahepatic cholestasis (PFIC) are the most common of these. Many factors associated with cholestatic diseases are known to degrade the oral health of these children. What are the oral manifestations associated with these diseases in the pediatric population? The aim of this article was to evaluate the impact of congenital cholestasis on oral health in pediatric patients. A systematic review of case reports and case series was carried out in PubMed, the Cochrane Library, and the Web of Science to identify relevant articles in French and English published up to April 2022. The review included 19 studies, 16 case reports, and three case series. Only studies dealing with BA and AGS were found. These studies showed an impact on jaw morphology, dental structure, and periodontal health. The facial dysmorphism observed in AGS was specific. Exposure to high levels of bilirubin during the period of dental calcification led to particular coloration. Regarding periodontal status, gingival inflammation was common in these patients, probably resulting from the use of certain treatment-associated drugs and poor oral hygiene. Cohort studies are needed to confirm the classification of these children as being at high individual risk of caries. Many major oral manifestations are found in children with AGS and BA, confirming the need to include a dentist in the care team of patients with congenital cholestatic disease as early as possible. It appears necessary to carry out individual prospective studies of each phenotype in order to confirm and better describe the oral impact of these cholestatic diseases and provide adequate medical care., Competing Interests: Declaration of Competing Interest None., (Copyright © 2023 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.)

Objectives: This study aims to report liver transplantation (LT) outcomes and cardiac disease manifestations in children with Alagille Syndrome (ALGS) in a contemporary cohort., Methods: This project used a novel linkage between the Scientific Registry of Transplant Recipients and Pediatric Health Information System databases. All children ≤21 years undergoing a first LT were identified (2002-2018). The presence of ALGS was identified using Scientific Registry of Transplant Recipients diagnosis coding. Subjects with ALGS were age-matched 1:2 to LT recipients with biliary atresia (BA). The Kaplan-Meier method and log-rank test were used to compare patient and graft survival between groups., Results: A total of 156 LT recipients with ALGS were identified and matched to a control group of 312 LT recipients with BA. Children with ALGS were more likely to have an associated diagnosis of congenital heart disease (80.7% vs 16.4%; P = 0.001) compared with children with BA with 40 (25.6%) children with AGS requiring cardiac intervention (catheter or surgical) either before or after LT. Those patients with ALGS had a higher creatinine, laboratory MELD, and PELD scores before LT. No difference was observed regarding patient or graft survival between children with ALGS and children with BA ( P = 0.08 and P = 0.27, respectively)., Conclusions: Despite increased rate of congenital heart defects and cardiac interventions, higher creatinine, and higher laboratory MELD/PELD scores at time of transplant, this study demonstrates that there is no difference in either patient or graft survival between patients with ALGS and BA., Competing Interests: The authors report no conflicts of interest., (Copyright © 2022 by European Society for European Society for Pediatric Gastroenterology, Hepatology, and Nutrition and North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition.)

Objective: Fat-soluble vitamin (FSV) deficiencies are common complications in pediatric patients with chronic cholestasis. The aim of the present study was to evaluate the status of FSV deficiencies in patients under present practice and to test the effect of an oral, absorbable, fat-soluble vitamin formulation (OAFSV) in these patients., Methods: We recruited a total of 23 pediatric patients receiving conventional FSV supplementation in a single medical center, with diagnosis of biliary atresia (10), progressive familial intrahepatic cholestasis (9), Alagille syndrome (2), and other conditions (2). Ten patients switched to OAFSV and continued for 3 months. Plasma levels of vitamins A, D, and E and an international normalized ratio (INR) for prothrombin time (PT), a surrogate marker for vitamin K deficiency, were measured., Results: The proportion of patients with FSV A, D, E, and K deficiencies under conventional supplementation was 73.9%, 81.8%, 91.3%, and 20.0%, respectively. In patients with total bilirubin levels ≥3.0  mg/dL, the proportion of at least 1 FSV deficiency was 100%; and the deficiency rates of vitamin A, D, E, and K were 78.6%, 100.0%, 100.0% and 21.4%, respectively. Of the 10 patients receiving standard daily dose of OAFSV for 3 months, no adverse events or overdose effects were found. The rates of vitamin A, D, and E deficiency in the patients receiving OAFSV decreased from 80.0%, 100%, and 100%, respectively, to 70.0%, 60.0%, and 60.0% after 3 months of oral supplementation., Conclusions: High rates of FSV deficiency were found in pediatric patients with chronic cholestasis under present follow-up. OAFSV supplementation is safe and potentially effective in pediatric patients with cholestasis.

Background/aim: The pancreatic functions of children with cholestatic liver diseases were unclear. Due to anatomic vicinity and common ontogenic origin, hepatobiliary disorders of infancy may also affect pancreatic function. The aim of the study was to evaluate the exocrine pancreatic function and common pancreatic function tests in children with cholestatic disorders., Methods: In 40 children with cholestasis, fecal elastase 1 (FE1) concentrations were measured. Serum amylase and lipase values were tested. The diagnoses included 32 patients with extrahepatic cholestasis (biliary atresia (BA) and choledochal cyst), and 8 patients with intrahepatic cholestasis (progressive familial intrahepatic cholestasis and Alagille syndrome). None had renal insufficiency or clinical symptoms/signs of acute pancreatitis., Results: All the patients had normal FE1 (>200 microg/g). Nineteen percent (7/37) had elevated serum amylase levels (>100 U/l). Thirty-two percent (12/37) had elevated serum lipase levels above the normal (>120 U/l). Seventy-three percent (8/11) of BA patients with bilirubin >2 mg/dl had elevated serum lipase levels compared to 18% (3/17) with bilirubin < or = 2 mg/dl (p = 0.0036). None had detectable pancreatic abnormality on ultrasonography and magnetic resonance images., Conclusions: None of the cholestatic children in this study had exocrine pancreatic insufficiency as detected by FE1. Hyperamylasemia and/or hyperlipasemia were frequently found. In children with BA, those with impaired biliary excretion tended to have elevated serum pancreatic enzymes as compared with those who had no jaundice. A decreased hepatic metabolism may be the cause., (Copyright 2005 S. Karger AG, Basel and IAP.)

Little is known about the safety of pediatric cardiac surgery in children with end-stage liver disease. We reviewed our experience with 4 patients with biliary atresia or Alagille's syndrome who underwent repair of ventricular septal defect and tricuspid regurgitation, atrioventricular canal, subaortic stenosis, or supravalvular aortic stenosis. One patient died on postoperative day 2. All other patients survived to discharge. At follow-up, 1 patient died at home awaiting liver transplantation and the remaining patients are doing well. One patient received a successful liver transplant. Pediatric cardiac surgery in children with end-stage liver disease can be done safely, albeit with a higher mortality.

Cholestasis results from structural and functional impairment of the hepatobiliary system, which is often the target of several environmental factors and disease processes. This review focuses on the clinical consequences of this impairment. When evaluating an infant or child with cholestasis, a broad differential diagnosis must be considered; viral infections, metabolic disorders, and toxic insults may often lead to cholestasis. In the infant, cholestasis associated with severe hepatic synthetic dysfunction points to life-threatening metabolic disorders. In this setting, early diagnosis and prompt treatment offer the only chance for survival. Fortunately, cholestasis in infants presents more frequently with initially normal liver synthetic function. In those infants without evidence of infection, evaluation for patency of the extra-hepatic biliary system is a high priority. Biliary atresia comprises a significant portion of these patients and requires surgical intervention with portoenterostomy in an attempt to improve biliary flow. In a substantial group of infants and older children in whom the cause for cholestasis is not apparent, typical clinical and biochemical markers may allow the identification of specific genetic defects of syndromes that result from abnormal canalicular transporters.

Unlabelled: To evaluate the diagnostic information gained from hepatobiliary scanning in infants, we reviewed 86 consecutive infants who were < or = 4 mo old and were treated for conjugated hyperbilirubinemia at the Hospital for Sick Children in Toronto between 1985 and 1993 and who had technetium iminodiacetic hepatobiliary scanning and a percutaneous liver biopsy performed in close temporal proximity., Methods: Retrospective reviews of hospital charts and blinded reviews of hepatobiliary scans were performed., Results: There were 58 male and 28 female infants (age range, 2-124 days; mean = 65 days). Hepatobiliary scanning failed to show biliary excretion into the gastrointestinal tract in 53 of 86 patients. Forty of these 53 had extrahepatic biliary atresia. The remaining 33 patients demonstrated biliary excretion into the gastrointestinal tract; 24 of 33 had neonatal hepatitis. Among 13 of the 53 patients who had no evidence of biliary excretion and who also did not have extrahepatic biliary atresia, 8 had idiopathic neonatal hepatitis, 4 had interlobular bile duct paucity and 1 had total parenteral nutrition-associated cholestasis. In this large series, no patient with extrahepatic biliary atresia showed bile drainage on hepatobiliary scanning. Fifty percent of patients with interlobular bile duct paucity but no extrahepatic obstruction failed to show biliary excretion of radionuclide. Twenty-five percent of patients (8 of 32) with idiopathic neonatal hepatitis demonstrated no biliary excretion. Hepatocellular extraction was examined by semiquantitative analysis in the nondraining, nonbiliary atresia patients (12 of 53). Four of these 12 patients demonstrated poor liver extraction. Three patients had idiopathic neonatal hepatitis, and one had bile duct paucity. Therefore, four of eight neonatal hepatitis patients had normal extraction, suggesting that poor versus good liver hepatocyte clearance cannot accurately identify neonatal hepatitis., Conclusion: Hepatobiliary scanning requires cautious interpretation. Nondraining scans may indicate severe neonatal hepatitis or the presence of interlobular bile duct paucity.

Disorders of the biliary tree are an important cause of cholestatic jaundice in infancy. For the most frequent diseases in this group, biliary atresia and choledochal cyst, prognosis is strongly dependent on timely diagnosis and treatment. In biliary atresia the bile flow is obstructed due to obliteration of the extrahepatic bile ducts. Construction of an hepatic portoenterostomy before 60 days of age will result in restoration of bile flow in the vast majority of patients. When failed, the disease is progressive and ultimately fatal, unless a liver transplantation is performed. For those patients in which restoration of the bile flow succeeds, the subsequent course is strongly dependent on the occurrence of cholangitis. For all patients fat-soluble vitamins should be supplemented and caloric intake should be carefully monitored. Presentation of a choledochal cyst can be either before or after the first year of life. It is mostly characterized by jaundice, with or without abdominal pain. Therapy consists of resection of the cyst, followed by a hepatico-jejunostomy. Paucity of bile ducts is an intrahepatic disorder, in which--almost--no bile ducts can be found in the portal tracts. This anomaly is frequently found in combination with a typical facies, a pulmonary stenosis and vertebral anomalies, a combination which is called Alagille syndrome. Prognosis is generally good.