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Neonatology pp 1207-1222 | Cite as

Pathology and Treatment of Liver Diseases in Newborns

  • Giuseppe Maggiore
  • Silvia Riva
  • Marco Sciveres
Reference work entry

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.

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

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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Giuseppe Maggiore
    • 1
  • Silvia Riva
    • 2
  • Marco Sciveres
    • 2
  1. 1.Department of Medical Sciences-Pediatrics, University of FerraraUniversity Hospital Arcispedale Sant Anna di ConaCONA (Ferrara)Italy
  2. 2.Pediatric Hepatology and Liver Transplant UnitIRCCS-ISMETT - University of Pittsburgh Medical Center (UPMC)PalermoItaly

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