Abstract
Liver disease in the newborn usually presents with two main distinct clinical syndromes: neonatal cholestasis and neonatal liver failure; in both cases, an urgent diagnosis is required. Cholestasis usually presents with prolonged jaundice or, less frequently, with a hemorrhagic syndrome related to late onset vitamin K deficiency. Cholestatic jaundice is associated with discolored stools and dark urines due to hyperbilirubinuria. Cholestasis affects approximately 1 in every 2,500 infants and its etiological spectrum is particularly wide, including conditions with severe prognosis. Diagnostic approach to a prolonged jaundice belongs to primary care pediatrician and includes diagnosing of its eventual cholestatic nature by evaluating abnormal stool or urine color and by measuring total and direct serum bilirubin; preventing of the hemorrhagic complications related to vitamin K deficiency by administrating a single intramuscular dose of vitamin K1; early suspecting biliary atresia in case of suggestive clinical picture, since the favorable outcome of surgery also relies on its precocity; and early referring the infant to a center experienced in the treatment of hepatobiliary disorders in childhood. Neonatal acute liver failure (NALF) is a rare and challenging condition. NALF is a multietiologic syndrome which is difficult to recognize initially. As important as the recognition of causes that may indicate specific diet and medical therapy is the selection of infants suitable for liver transplantation since mortality is high and only 25% of infants survive with their native liver. Management of NALF requires supporting the neonate until liver regeneration or liver transplantation takes place.
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Abbreviations
- AAT:
-
Alpha-1-antitrypsin
- AATD:
-
Alpha-1-antitrypsin deficiency
- AGS:
-
Alagille syndrome
- ALF:
-
Acute liver failure
- BA:
-
Biliary atresia
- EFA:
-
Essential fatty acids
- FHLH:
-
Familial hemophagocytic lymphohistiocytosis
- GALD:
-
Gestational alloimmune liver disease
- HFI:
-
Hereditary fructose intolerance
- HT1:
-
Hereditary tyrosinemia type 1
- MAS:
-
Macrophage activation syndrome
- NALF:
-
Neonatal acute liver failure
- NBAS:
-
Neuroblastoma-amplified sequence
- NH:
-
Neonatal hemochromatosis
- PFIC:
-
Progressive familial intrahepatic cholestasis
- PI:
-
Protease inhibitor
- SGA:
-
Small for gestational age
- VKDB:
-
Vitamin K deficiency bleeding
- γGT:
-
Gamma-glutamyl transpeptidase
References
Alagille D, Estrada A, Hadchouel M et al (1987) Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 110:195–200
Bergounioux J, Franchi-Abella S, Monneret S et al (2004) Neonatal ischemic liver failure: potential role of the ductus venosus. J Pediatr Gastroenterol Nutr 38:542–544
Bernard O (1998) Early diagnosis of neonatal cholestatic jaundice. Arch Pediatr 5:1031–1035
Bucuvalas J, Yazigi N, Squires RH Jr (2006) Acute liver failure in children. Clin Liver Dis 10:149–168
Capo-Chichi JM, Mehawej C, Delague V et al (2015) Neuroblastoma Amplified Sequence (NBAS) mutation in recurrent acute liver failure: confirmatory report in a sibship with very early onset, osteoporosis and developmental delay. Eur J Med Genet 58:637–641
Champion V, Carbajal R, Lozar J et al (2012) Risk factors for developing transient neonatal cholestasis. J Pediatr Gastroenterol Nutr 55:592–598
Chardot C (2006) Biliary atresia. Orphanet J Rare Dis 26:1–28
Clayton PT (2002) Inborn errors presenting with liver dysfunction. Semin Neonatol 7:49–63
Davit-Spraul A, Gonzales E, Baussan C, Jacquemin E (2009) Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis 4:1
de Laet C, Dionisi-Vici C, Leonard JV et al (2013) Recommendations for the management of tyrosinaemia type 1. Orphanet J Rare Dis 8:8
Dhawan A, Mieli Vergani G (2005) Acute liver failure in neonates. Early Hum Dev 81:1005–1010
Durand P, Debray D, Mandel R et al (2001) Acute liver failure in infancy: a 14-year experience of a pediatric liver transplantation center. J Pediatr 139:871–876
Fellman V, Kotarsky H (2011) Mitochondrial hepatopathies in the newborn period. Semin Fetal Neonatal Med 16:222–228
Filipovich AH, Chandrakasan S (2015) Pathogenesis of hemophagocytic lymphohistiocytosis. Hematol Oncol Clin North Am 29:895–902
Gonzales E, Grosse B, Schuller B et al (2015) Targeted pharmacotherapy in progressive familial intrahepatic cholestasis type 2: evidence for improvement of cholestasis with 4-phenylbutyrate. Hepatology 62:558–566
Haack TB, Staufner C, Ko MG et al (2015) Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy. Am J Hum Genet 97:163–169
Heissat S, Collardeau-Frachon S, Baruteau J et al (2015) Neonatal hemochromatosis: diagnostic work-up based on a series of 56 cases of fetal death and neonatal liver failure. J Pediatr 166:66–73
Hsiao CH, Chang MH, Chen HL et al (2008) Universal screening for biliary atresia using an infant stool color card in Taiwan. Hepatology 47:1233–1240
Jacquemin E, Setchell KD, O’Connell NC et al (1994) A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr 125:379–384
Jacquemin E, Lykavieris P, Chaoui N et al (1998) Transient neonatal cholestasis: origin and outcome. J Pediatr 133:563–567
Jimenez-Rivera C, Gupta A, Feberova J et al (2014) Successful treatment of neonatal hemochromatosis as gestational alloimmune liver disease with intravenous immunoglobulin. J Neonatal-Perinatal Med 7:301–304
Lee WS, Sokol RJ (2013) Mitochondrial hepatopathies: advances in genetics, therapeutic approaches, and outcomes. J Pediatr 163:942–948
Lee MS, Kim MJ, Lee MJ et al (2009) Biliary atresia: color doppler US findings in neonates and infants. Radiology 252:282–289
Maggiore G, Bernard O, Hadchouel M et al (1991) Diagnostic value of serum gamma-glutamyl transpeptidase activity in liver diseases in children. J Pediatr Gastroenterol Nutr 12:21–26
McClean P, Davison S (2003) Neonatal liver failure. Semin Neonatol 8:393–401
Moyer V, Freese DK, Whitington PF et al (2004) Guideline for the evaluation of cholestatic jaundice in infants: recommendations of the North American Society for Pediatric Gastroenterology, Hepatology and Nutrition. J Pediatr Gastroenterol Nutr 39:115–128
Petersen C, Davenport M (2013) Aetiology of biliary atresia: what is actually known? Orphanet J Rare Dis 8:128
Primhak RA, Tanner MS (2001) Alpha-1-antitrypsin deficiency. Arch Dis Child 85:2–5
Sambrotta M, Strautnieks S, Papouli E et al (2014) Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 46:326–328
Serinet MO, Wildhaber BE, Broué P et al (2009) Impact of age at Kasai operation on its results in late childhood and adolescence: a rational basis for biliary atresia screening. Pediatrics 123:1280–1286
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Maggiore, G., Riva, S., Sciveres, M. (2018). Pathology and Treatment of Liver Diseases in Newborns. In: Buonocore, G., Bracci, R., Weindling, M. (eds) Neonatology. Springer, Cham. https://doi.org/10.1007/978-3-319-29489-6_224
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DOI: https://doi.org/10.1007/978-3-319-29489-6_224
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