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  • Title: [Hepatic lesions caused by alpha 1-antitrypsin deficiency in childhood. Review of 14 cases].
    Author: Mellado MJ, Jara P, Valverde F, Díaz MC, Fuentes E, Larrauri J, Vázquez C.
    Journal: An Esp Pediatr; 1986 Jul; 25(1):5-12. PubMed ID: 3489428.
    Abstract:
    Fourteen cases of alpha-1-antitrypsin deficiency are presented. All of them had a PIZZ phenotype except two in which a PIMZ phenotype was found. It must be pointed out that histological findings show a great variability among the different patients most of which did not have intracellular PAS-positive amylase inclusions in liver biopsy specimens. Clinical course did not correlate with either the age of onset of the disease or the phenotype found, thus indicating that other additional factors are involved in determining prognosis. We insist on the importance of a careful study of all neonatal hepatitis syndromes in order to rule out a alpha-1-antitrypsin deficiency.
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