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Chronic Liver Disease
Published in Praveen S. Goday, Cassandra L. S. Walia, Pediatric Nutrition for Dietitians, 2022
Julia M. Boster, Kelly A. Klaczkiewicz, Shikha S. Sundaram
BA presents with neonatal cholestasis and evidence of biliary obstruction, namely jaundice and acholic (pale or clay-colored) stools. The treatment for BA is a Kasai hepatoportoenterostomy (HPE), which attempts to restore bile flow. The Kasai HPE successfully re-establishes long-term bile flow in approximately one-third of patients. Early diagnosis of BA is essential, as infants <30–45 days of age at the time of Kasai HPE are more likely to have surgical success. Children with BA, even after the Kasai HPE, may have persistent cholestasis and ongoing fibrosis. With progressive hepatic fibrosis, children often develop complications of portal hypertension, including splenomegaly, ascites, and variceal bleeding. Patients who develop complications of portal hypertension, or alternatively never achieve adequate bile flow, will require liver transplantation. BA is the leading indication for liver transplantation in childhood.
Liver Disease in Cystic Fibrosis
Published in Gianfranco Alpini, Domenico Alvaro, Marco Marzioni, Gene LeSage, Nicholas LaRusso, The Pathophysiology of Biliary Epithelia, 2020
Carla Colombo, Pier Maria Battezzati, Clara Fredella, Andrea Crosignani
Evidence of liver disease in CF patients is often subclinical until pathological changes are diffuse and pronounced. The most common presentation of liver disease is the occasional finding of hepatomegaly on routine physical examination, often but not always associated with abnormalities of liver biochemistry. Jaundice is limited to patients with neonatal cholestasis or in those with end-stage multilobular biliary cirrhosis.
Coexistence of Three Different Mutations in a Male Infant: neurofibromatosis Type 1, Progressive Familial Intrahepatic Cholestasis Type 2 and LPIN3
Published in Fetal and Pediatric Pathology, 2022
Derya Altay, Orhan Gorukmez, Duran Arslan
Neonatal cholestasis is a condition of conjugated hyperbilirubinemia caused by different etiologic factors, such as obstructive, infective and metabolic genetic disorders. Progressive familial intrahepatic cholestasis (PFIC) is a genetic disease that leads to neonatal cholestasis, and is responsible for approximately 10-15% of cholestatic cases [1]. PFIC is caused by mutations of hepatobiliary carrier proteins coding genes and the most common form is PFIC type 2 (PFIC2), which occurs due to mutation in ABCB11. In infants with PFIC 2, cholestasis begins early in life, progresses rapidly and causes severe pruritus [2]. Neurofibromatosis type 1 is the most common neurocutaneous disease with autosomal dominant inheritance characterized by cafe-au-lait spots, neurofibromas in the skin; Lisch nodules and optic gliomas in the eyes; vascular defects, brain tumors, epilepsy, and headache in the central nervous system; scoliosis, pseudoarthrosis, pectus excavatum in the bones; speech problems, delayed puberty and hypertension [3]. LPIN3 mutation is a condition that causes lipodystrophy characterized by loss of body fat, fatty liver, hypertriglyceridemia and insulin resistance [4]. Here, we present a case that presented with cholestasis and was diagnosed as having PFIC 2, neurofibromatosis type 1 and LPIN3 mutation.
Non Syndromic Paucity of Interlobular Bile Ducts in Children – A Clinicopathological Study
Published in Fetal and Pediatric Pathology, 2020
Suravi Mohanty, Kanishka Das, Marjorie Maria Anne Correa
Certain authors have hinted at a progressive element in the evolution of PILBD over the years from infancy to adulthood. Kahn et al. [11] had reported a sibling of an index case presenting with features of neonatal cholestasis who was proved to have bile duct paucity at four years of age. Some of the 22 adults of small duct biliary diseases studied at the Mayo Clinic over a 6 year period [29] and sporadic reports of idiopathic late onset NSPILBD [7, 8] may have actually started in childhood! An interesting study of liver biopsies in adults with mild, asymptomatic, non-progressive liver disease with PILBD revealed absence of ducts in nearly 40% of portal tract [30]. Similarly, spontaneous reappearance of bile ducts and resolution in NS PILBD has also been reported [31]. On the other hand, progression of PILBD to biliary atresia has also been documented [32]. Perhaps, sequential liver biopsies and a long term follow up in these infants will clarify the natural history and continuum better.
Predicting variceal bleeding in patients with biliary atresia
Published in Scandinavian Journal of Gastroenterology, 2019
Hanbyul Sohn, Sowon Park, Yunkoo Kang, Hong Koh, Seok Joo Han, Seung Kim
Biliary atresia is a destructive inflammatory obliterative cholangiopathy of neonates characterized by the obstruction of extrahepatic bile ducts and is the leading cause of neonatal cholestasis, liver cirrhosis, and liver transplantation [1–4]. Being a rare disorder, the incidence of biliary atresia is 0.42–1.79/10,000 live births, which is higher in Eastern countries compared to that of Western countries [5]. Jaundice, acholic stools, and dark urine is the most common symptoms of biliary atresia, which occurs at any time from birth to few months of age [4].