The case involves a 33-year-old man with biliary atresia, Wilson disease (WD), and iron overload. Biliary atresia, a cholangiodestructive disease, leads to cirrhosis if untreated. WD, caused by ATP7B gene mutations, results in copper accumulation affecting the liver and brain. Iron overload can be seen in cases of WD and with hereditary hemochromatosis gene mutations. The patient's concurrent presentation of these conditions poses a unique clinical challenge. Elevated iron levels may worsen WD outcomes. A detailed history and physical examination, genetic testing, and close follow-up are crucial. The case highlights the need for increased awareness and vigilant monitoring of patients with overlapping liver diseases.
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http://dx.doi.org/10.14309/crj.0000000000001500 | DOI Listing |
Pediatr Res
January 2025
Pediatric Liver GI and Nutrition Centre and Mowat Labs, King's College Hospital NHS Foundation Trust, London, UK.
Research on biomarkers in BA promises to predict and change outcomes in BA. This goal is still unrealized at the moment. The study by Kamp et al attempts to understand the drivers of fibrosis and elucidate the role of amyloid-related genes in the pathophysiology of BA.
View Article and Find Full Text PDFHepatol Commun
November 2024
Paediatric Liver, GI and Nutrition Centre and Mowatlabs, King's College Hospital, London, UK.
Background: The Kasai portoenterostomy (KPE) aims to re-establish bile flow in biliary atresia (BA); however, BA remains the commonest indication for liver transplantation in pediatrics. Gut microbiota-host interplay is increasingly associated with outcomes in chronic liver disease. This study characterized fecal microbiota and fatty acid metabolites in BA.
View Article and Find Full Text PDFCureus
December 2024
Department of Pharmacy, Mesco College of Pharmacy, Hyderabad, IND.
Biliary atresia (BA) is a serious hepatobiliary disorder that occurs due to progressive inflammation and scarring obstruction in the bile ducts, posing a threat to life. This condition usually appears in infants, and timely identification is fundamental for a better prognosis. If left untreated, individuals will inevitably experience liver damage and mortality.
View Article and Find Full Text PDFEur J Pediatr Surg
January 2025
Pediatric Surgery, All India Institute of Medical Sciences, Jodhpur, JODHPUR, India.
Introduction Indocyanine Green (ICG) fluorescence guided surgery (FGS) is reported extensively in adult operations, but its safety and applications in Pediatric populations remain to be comprehensively understood. The dose, administration protocols and intraoperative imaging benefits in Pediatric hepatobiliary operations are not clear. Objectives To identify the feasibility and applications of ICG Fluorescence Guided Surgery (FGS) in hepatobiliary surgeries (for biliary atresia, choledochal cyst, and cholelithiasis) in children.
View Article and Find Full Text PDFNeurosurg Focus
January 2025
1Department of Pediatric Neurosurgery, Hôpital Necker - Enfants Malades, Assistance Publique-Hôpitaux de Paris.
Objective: Craniosynostoses are an underrecognized cause of intracranial hypertension (ICH), especially when associated with congenital syndromes. Alagille syndrome (ALGS) is a multisystem disorder with typical facial features and hepatobiliary, cardiac, vascular, skeletal, and ocular manifestations. The occurrence of craniosynostosis in ALGS is rare and can be associated with chronic ICH, requiring craniofacial surgery to increase the intracranial volume.
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