Biliary Atresia in 2021: Epidemiology, Screening and Public Policy

Meconium peritonitis (MP) combined with intestinal atresia (IA) is a rare neonatal condition, and it is even rarer in combination with biliary atresia (BA). We describe a case of an infant who developed short bowel syndrome after partial intestinal resection due to MP and IA, along with a Santullienterostomy. During continuous enteral and parenteral nutrition, the stool color became paler. BA was identified by elevated direct bilirubin (DBIL), gamma-glutamyltransferase (GGT), serum matrix metalloproteinase-7 (MMP-7), and hepatobiliary ultrasound; then, Kasai portoenterostomy (KPE) was performed promptly. The Roux-en-Y limb was adjusted intraoperatively to preserve the maximum length of the small intestine while closing the enterostomy. After the operation, the infant gradually adapted to enteral nutrition, his bilirubin level returned to normal, and his weight gradually caught up to the normal range. Although rare, BA should be suspected when MP is combined with IA and when the stool becomes paler in color in the enterostomy state.

Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Meconium Peritonitis, Intestinal Atresia Combined With Biliary Atresia: A Case Report

Han

Chen

et al. 2022

“…The incidence of BA varies among regions. Indeed, previous studies reported that the incidence of BA is 1:15,000 to 1: 20,000 in live births in North America and Western Europe, 1 in 10,000 in Japan, 1 in 5,000 in Taiwan, and French Polynesia is that with the highest (1:3,000) (2,3). BA has three main clinical characteristics: jaundice lasting for more than 14 days, stools with a light color or clay stools and urine with a dark color.…”

Section: Introductionmentioning

confidence: 99%

Sound touch elastography for assessing cirrhosis preoperatively in infants with biliary atresia: Comparison with serum fibrosis biomarkers

Duan

Yang²,

Wen³

et al. 2022

IntroductionThe accurate assessment of the stages of hepatic fibrosis in children with biliary atresia (BA) before performing Kasai portoenterostomy (KPE) is of utmost importance. Some studies demonstrated that ultrasound elastography can be used to assess the stages of hepatic fibrosis by detecting liver stiffness. Therefore, the aim of this work was to explore the usefulness of sound touch elastography (STE) for preoperatively assessing liver cirrhosis in infants with BA.MethodsA total of 189 children from the Hunan Children’s Hospital with highly suspected BA were selected for this study, and their preoperative liver STE values and related clinical data were collected. The pathological results of the liver stages were considered as the gold standard. Spearman correlation was used to analyze the correlation between each parameter and the stage of hepatic fibrosis, and the receiver operator characteristic (ROC) curve was used to analyze the diagnostic performance for cirrhosis of each parameter.ResultsAmong the selected 189 patients with suspected BA, 159 were included in this study and were composed of 3 at hepatic fibrosis stage F1, 45 at stage F2, 41 at stage F3, and 70 at stage F4, while no patients at stage F0 were present. Spearman correlation analysis showed that the liver STE value had the highest correlation with the stage of hepatic fibrosis, with a correlation coefficient of 0.813 (P < 0.001). The liver STE value had the highest diagnostic performance for hepatic cirrhosis compared to other biomarkers of serum fibrosis; the area under the ROC curve was 0.899 when the best cut-off value was 14.57 kPa. The sensitivity, specificity, positive predictive value, negative predictive value, and diagnostic accuracy were 78.6, 84.3, 79.7, 83.3, and 81.8%, respectively.ConclusionThe liver STE value has a high correlation with the stage of hepatic fibrosis in children with BA. STE has a good diagnostic performance in evaluating cirrhosis before KPE in children with BA.

“…Cholestatic jaundice is one of the major liver diseases in infants. Biliary atresia (BA) presents clinically in the first weeks of life with jaundice and acholic pale stools, the prototypical clinical features of an obstructive-type jaundice ( 1 ). Early diagnosis of BA and timely Kasai portoenterostomy (KPE) are correlated with favorable prognoses ( 2 ).…”

Section: Introductionmentioning

confidence: 99%

Case Report: Novel JAG1 gene mutations in two infants with alagille syndrome characterized by cholestasis

Han

Wu²,

Chen³

et al. 2022

BackgroundInfants with Alagille syndrome (ALGS) need to be promptly differentiated from biliary atresia (BA) at an early stage. ALGS is an autosomal, dominant, multisystem disorder with variable phenotypic penetrance caused by heterozygous mutations in JAG1 or NOTCH2, which encode the Notch signaling pathway.Case presentationWe report two cases, both with cholestatic jaundice as the main manifestation, in which BA was excluded and finally diagnosed as ALGS based on characteristic facial features, serological tests, imaging, laparoscopic cholangiography, pathology and genetic findings. Both cases are novel mutant genes on chromosome 20 that have not been reported in the literature. The mutation in patient 1 was a novel heterozygous nonsense mutation (NM_000214 exon20, c.2419G > T, p.E807Ter), which was a spontaneous mutation. Followed up to 1 year and 6 months, the symptoms resolved with ursodeoxycholic acid and cholestyramine, and the jaundice has now subsided. Patient 2 was a novel heterozygous frameshift mutation (NM_000214 exon19, c.2367–2368dupTC, p.P790Lfs*31), which was inherited from his mother. This patient was followed up to 9 months and is currently awaiting liver transplantation.ConclusionBoth cholestatic infants reported combined to exclude BA, avoid Kasai portoenterostomy (KPE), and definitively diagnose ALGS. Broadening the spectrum of JAG1 gene mutations.