Neonatal hepatitis with obstructive jaundice in an SZ heterozygous alpha 1-antitrypsin-deficient boy and destructive lung disease in his SZ mother. A review of the literature.
Eur J Pediatr
; 144(4): 391-4, 1985 Nov.
Article
em En
| MEDLINE
| ID: mdl-3878294
ABSTRACT
SZ-Alpha 1-antitrypsin deficiency, leading to severe transient neonatal cholestasis with mild hepatitis is rare. In our patient, intrahepatic bile duct hypoplasia was suspected. Since cholecystography and hepatic scintigraphy failed to reveal intrahepatic bile ducts, a diagnostic surgical liver biopsy was performed. Typical intrahepatocytic PAS-positive granules and a low serum alpha 1-antitrypsin concentration allowed a correct diagnosis of the SZ phenotype. The administration of an elementary diet quickly improved the clinical condition of our patient. Follow-up studies of this case and others will allow a better establishment of prognostic criteria and help in genetic counselling.
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Base de dados:
MEDLINE
Assunto principal:
Deficiência de alfa 1-Antitripsina
/
Hepatite
/
Icterícia Neonatal
/
Pneumopatias Obstrutivas
Idioma:
En
Ano de publicação:
1985
Tipo de documento:
Article