Cholestatic Syndromes in Infancy: Diagnostic Value of Serum Bile Acid Pattern and Cholestyramine Administration (original) (raw)
Related papers
Infants With Cholestasis: Diagnosis, Management And Outcome
Marmara Medical Journal, 2012
Objective: Infants with cholestatic jaundice were evaluated retrospectively in terms of etiologies, diagnostic methods, laboratory findings, treatment procedures and long-term prognosis. Patients and Methods: The study consisted of 70 children (52.8% male, 47.1% female) with cholestasis ranging in age from 15 days to 8 months (mean age, 60±26 days). Patients were divided into three groups according to the diagnosis: (i) patients with extrahepatic biliary atresia, (ii) patients with intrahepatic biliary hypoplasia, and (iii) patients with hepatocellular disease. Their clinical parameters were evaluated. Results: In the group with extrahepatic biliary atresia the onset of jaundice was significantly earlier and the presence of acholic stool and total bilirubin levels were remarkably higher than in the groups with intrahepatic biliary hypoplasia or hepatocellular disease. Serum gamma-glutamyl transpeptidase (GGT) and alkaline phosphotase (ALP) levels were found to be significantly higher in the groups with extrahepatic biliary atresia and intrahepatic biliary hypoplasia than the group with hepatocellular disease (p<0.001 and p<0.01, respectively). The contribution of technetium-99m (99mTc) scintigraphy to the diagnosis was significantly higher in the group with extrahepatic biliary atresia than the groups with intrahepatic biliary hypoplasia and hepatocellular disease (p<0.002). Conclusion: It was found that cholestasis, acholic stool and elevated GGT are better markers for extrahepatic biliary atresia than for intrahepatic biliary hypoplasia or hepatocellular disease in infants. The contribution of scintigraphy to the diagnosis was found to be higher in the group with extrahepatic biliary atresia than in the other groups.
Neonatal Cholestasis: an update
Gastroenterology & Hepatology: Open Access, 2021
Any infant who is jaundiced beyond two to three weeks of life should be evaluated for neonatal cholestasis. Neonatal cholestasis is defined as accumulation of bile substances in blood due to impaired excretion. The most common causes of cholestatic jaundice in the first months of life are biliary atresia, idiopathic neonatal hepatitis, infections (Cytomegalovirus, herpes simplex toxoplasma, rubella, urinary tract infection, sepsis), endocrine (hypothyroidism), metabolic (Galactosemia, tyrosinemia, neonatal hemochromatosis), genetic (progressive familial intrahepatic cholestasis, Down syndrome, Alagille syndrome) along with many unknown or multifactorial (eg, parenteral nutrition-related) one. Conjugated hyperbilirubinemia, pale stools and dark urine are the cardinal features of neonatal cholestasis. Newborn screening for biliary atresia by using stool color cards is potentially life-saving and cost-effective. The differential diagnosis of cholestasis is extensive and a systematic approach is helpful to quickly establish the diagnosis. Early recognition, prompt evaluation, timely referrals to the pediatric gastroenterologist/hepatologist and algorithmbased management will improve outcome in neonatal cholestasis. Despite the unavailability of any specific treatments for some causes of neonatal cholestasis, the patient can benefit from nutritional management and early medical intervention.
Cholestatic jaundice in infancy: struggling with many old and new phenotypes
Italian Journal of Pediatrics, 2019
Background: Clinical diagnosis of neonatal cholestasis is considered to be an extremely challenging process. Here we highlight the importance not only of the prompt distinction between extrahepatic and intrahepatic cholestasis forms, but also of the precise identification of the latter ones amongst the hotchpotch of recently discovered metabolic/genetic causes. Biliary atresia is considered a surgical emergency in a newborn infant. The rate of success in establishing the bile drainage is in fact a function of the early age when the hepato-portoenterostomy intervention is performed. Intrahepatic cholestasis is due to a broad and more and more puzzling variety of infectious, endocrine, genetic, metabolic and toxic disorders where Gamma-glutamyl transpeptidase serum levels may help for differential diagnosis. Recently established laboratory diagnostic techniques have allowed to discover new causes of neonatal cholestasis. Aim of the Commentary is to go through some of them and bring the focus particularly on the information deriving from the paper by Pinon et al. in this issue of the Journal, which paves the way to the inclusion of the hepatocyte nuclear factor-1-beta deficiency as a new condition to consider in the diagnostic process of the syndromic forms with paucity of intralobular bile ducts. Conclusion: Neonatal cholestasis poses diagnostic challenges in practice. Recent advances in the pathophysiology and in molecular genetics together with clinical features, histopathologic findings and careful reasoning remains paramount to put together the pieces of the jigsaw.
International Journal of Contemporary Pediatrics
Neonatal cholestasis occurs due to failure of the excretion of bile. This happens due to defects in intrahepatic bile production, defects in transmembrane transport of bile, or mechanical obstruction to the flow of bile. Etiology varies from biliary atresia, choledochal cyst, inborn errors of metabolism, neonatal hepatitis, progressive familial intrahepatic cholestasis, congenital infections, etc. Our 3 patients presented with hepatomegaly, splenomegaly, pale stools, and dark urine. We hereby report all these Indian infants presented with cholestasis and discussed in detail regarding clinical, laboratory, and etiological profiles of all.
Neonatal and Infantile Cholestasis: An Approach to Histopathological Diagnosis
Revista Colombiana De Gastroenterologia, 2014
Although the role of liver biopsies is changing with the development of new diagnostic methods and advances in imaging techniques, non-invasive biomarkers, proteomic and genomic studies, a liver biopsy performed at the right time and with appropriate indications continues to be an important tool for assessment and diagnosis of children with cholestasis. This is equally true in the neonatal period, in early childhood, and in late childhood not only for determination of an etiology and establishing a prognosis, but also for guiding treatment of the patient (1). There are multiple causes and morphological patterns that may be related to a genetic defect in aspects of hepatic metabolism including synthesis of bile acids, formation and function of membrane transporters, and alterations in the development of the bile ducts. Many of these may overlap and should be interpreted in conjunction with clinical, genetic and laboratory findings. Inherited syndromes that produce intrahepatic cholestasis and biliary atresia are the most common causes of chronic liver disease and the leading indication for liver transplantation in children. The approach we present here emphasizes the close cooperation that should exist between pediatricians, gastroenterologists, pediatric surgeons and pathologists for proper identification of many of the cholestatic diseases that can affect this age group. Subsequent surgical or medical management may include liver transplantation (2, 3).
Clinical aspects on neonatal cholestasis based on observations at a Swedish tertiary referral centre
Acta Paediatrica, 2007
The aim of the study was to investigate the clinical aspects of neonatal cholestasis. The medical records of 85 cholestatic infants were retrospectively reviewed. A majority of the patients were referred from other parts of the country. The most common diagnoses were extrahepatic biliary atresia (n = 30 patients), a 1-antitrypsin de ciency (n = 11) and progressive familial intrahepatic cholestasis (n = 11). On presentation, the biliary atresia group had higher mean serum values of bilirubin, G-GT and cholesterol than the patients with intrahepatic cholestasis, with no signi cant differences noticed for any other biochemical parameter. A lack of excretion on hepatobiliary scintigraphy was noticed in all investigated patients with biliary atresia, but also in 9 of 34 patients with intrahepatic neonatal cholestasis. There was no statistical correlation between the age at portoenterostomy and the outcome in patients with biliary atresia. However, both the detection of a partial ow on perioperative cholangiogram and the establishment of a non-icteric phase within 6 mo after the portoenterostomy correlated to a good outcome. Eight of 11 patients with progressive familial intrahepatic cholestasis were treated with a biliary diversion procedure, ve of eight experienced a sustained cholestatic remission. Conclusions: Progressive familial intrahepatic cholestasis may be a more common cause of neonatal cholestasis in Sweden than reported elsewhere and that the experience with biliary diversion is positive. While early referral in patients with extrahepatic biliary atresia remains important, a portoenterostomy should be attempted also in patients referred after 3 mo of age.
Retrospective Evaluation of the Neonatal Cholestasis Cases
Journal of Academic Research in Medicine, 2021
Objective: Neonatal cholestasis is a condition that begins in the first months of life and is accompanied by a direct increase in bilirubin and jaundice as a result of deterioration in bile production or excavation. Early and accurate diagnosis is important for treatment success and prognosis. In this study, we aimed to examine the demographic characteristics, etiological factors, clinical signs, treatment and final conditions of patients monitored for neonatal cholestasis and to determine the etiological factors of liver transplant patients. Methods: Patients who were diagnosed with cholestasis in the neonatal period (<6 months) and followed up in our clinic for at least six months between January 2005 and January 2018 were included in the study. The clinical course and final status of the patients were recorded retrospectively. Results: The median age of onset of jaundice in 131 patients (61.1% male) enrolled in the study was 6 days (range: 1-180 days). Ninety-nine (75.6%) patients were in the intrahepatic cholestasis group, and 32 (24.4%) were in the extrahepatic cholestasis group. In the intrahepatic cholestasis group, total parenteral nutrition-related cholestasis (27.3%) was the most common, and biliary atresia (71.9%) was the most common in the extrahepatic cholestasis group. Other main reasons were systemic (19.1%), metabolic (12.2%), hereditary cholestatic diseases (9.9%) and infectious (7.6%) causes. The median time of Kasai portoenterostomy in patients with biliary atresia was 64 days (range: 28-180 days). The highest (44%) mortality rate was in the patients with systemic disease-related cholestasis. Liver transplantation (n=21, 16%) was the most frequently performed in patients with biliary atresia. Conclusion: Early diagnosis and timely treatment are very important for the optimal prognosis in neonatal cholestasis. The presence of acholic stools, maturity, early onset of jaundice and high gamma-glutamyl transferase levels should suggest biliary atresia. Early surgical treatment is warranted once the diagnoses was made, and liver transplantation is a treatment method that increases survival rate in these patient groups.
Clinic-o-etiological profile of cholestasis in infants in a tertiary care center
Panacea Journal of Medical Sciences, 2023
Abstract Introduction: Common presenting feature of hepatobiliary and metabolic dysfunction in neonates is cholestatic jaundice. It is essential to recognise the neonatal cholestasis early. Significant proportion of cases of cholestatic disease are constituted by EHBA. If management of Extra Hepatic Biliary Atresia is delayed beyond three months of life, only option available then is liver transplantation. Aim: To analyse etiological factors and to study clinical presentation of cases presenting with cholestasis. Objectives: Study the clinical presentation and analyse the etiological factors in infants with cholestasis. To determine the validity of ACS and compare outcomes of EHBA with respect to age at presentation. Prospective observational study was done in 104 infants with cholestasis who were admitted in Paediatric ward of niloufer hospital from January 2019 to July 2020. Statistical analysis done by chi square test and fisher’s exact tests. Results: Of the total 104 cases, 47 cases were diagnosed to be EHBA and 38 cases were found to have neonatal hepatitis.58.6% were male and 41.34%were female and 72 were term and 32 were preterm. Mean age of presentation with EHBA and Neonatal hepatitis was 91 days and 94 days. LFT’s in EHBA cases showed mean TSB 12.19 ± 5 mg/dl Vs 11.7 ± 5.8 mg/dl in NH babies with a p value equal to 0.379. Direct bilirubin revealed 6.44 ± 3.1mg/dl Vs 6.64 ± 3.1mg/dl in NH group (p = 0.824).HIDA scan showed 41% had EHBA, 33.3% had NH Conclusion: AIIMS Clinical score (ACS) cannot correctly differentiate EHBA from NH. Survival was significantly higher in infants with EHBA who were operated before 60 days of life. Keywords: Cholestasis, Extrahepatic biliary atresia ( EHBA), Neonatal hepatitis (NH), Aims Clinical score (ACS), infancy
Diagnostic evaluation of infantile cholestasis
Journal of the Medical Association of Thailand = Chotmaihet thangphaet, 2008
To evaluate diagnostic accuracy of some important clinical manifestations and different investigations in infantile cholestasis. Infants diagnosed with prolong conjugated hyperbilirubinemia and admitted to Chiang Mai University Hospital between Jan 1999 and Feb 2003. Demographic and clinical data were recorded Routine biochemical tests, and serology for TORCHS infections were carried out. An abdominal ultrasonography, DISIDA scan and percutaneous/open liver biopsy were performed. Hyperechoic band at the level of portal bifurcation, named triangular cord (TC) sign was blindly assessed on ultrasonography by the same radiologist. The patients were diagnosed as BA if either operative findings of atretic common bile duct/ gallbladder or evidence of bile duct obstruction demonstrated by intraoperative cholangiography was noted Sixty-one patients were diagnosed as BA (n = 31) and NH (n = 30) with an average age at diagnosis of 88.6 and 63.1 days respectively. Concerning clinical presentati...