α1-Antitrypsin Deficiency and Liver Disease in Children

Abstract

\s=b\This report describes the clinical, biochemical, and hepatic morphologic findings in ten children with severe serum \g=a\1-antitrypsin deficiency. Genetic protease inhibitor (Pi) phenotyping, using acid-starch gel and crossed antigen-antibody electrophoresis, demonstrated Pi phenotype ZZ in all our cases. In eight patients, manifestations of liver disease appeared during the first year of life. The case reports show that \g=a\1-antitrypsin deficiency should be suspected in any child with neonatal hepatitis, unexplained hepatomegaly or splenomegaly, or cirrhosis.In our report, one infant is normal at age 6 months, and one infant had progressive hepatic damage that culminated in liver failure and death at age 6 months. The variable clinical course and prognosis for infants with severe \g=a\1-antitrypsin deficiency is well illustrated by these two infants.

Nonsyndromatic paucity of interlobular bile ducts: Light and electron microscopic evaluation of sequential liver biopsies in early childhood

“…The etiology of nonsyndromatic paucity usually remains unclear. Associated conditions are documented in only a small fraction of patients [cY1-antitrypsin deficiency (12)(13)(14)(15)(16), cystic fibrosis (17), graft-versus-host disease (18, 19), liver transplant rejection (18), altered bile acid metabolism (20)(21)(22)(23), cytomegalovirus infection (24,25), rubella (26), trisomy 21 (27) and hypopituitarism (28)J. Of interest is the diagnosis of Down's syndrome in two of our patients, an association previously described in only one other child (27).…”

Outcome of liver disease associated with alpha 1 antitrypsin deficiency (PiZ). Implications for genetic counselling and antenatal diagnosis.

“…The high proportion (over 90 %) presenting in early infancy may reflect our interest in liver disease in this age group.18 Of 67 prospectively studied children presenting in infancy, 19 are already dead, and 19 have cirrhosis, while only 15 have no evident liver disease. Seven of the remaining 14 may have cirrhosis since they have persisting splenomegaly, but in others the liver function tests may become normal.…”

“…There were no consanguinous marriages. Among the 64 siblings phenotyped, 14 were PiM, 29 PiMZ, 15 PiZ, three PiMS, two PiSZ, and one PiMY Brighton.…”

Μελετη Της Α_1 Αντιθρυψινης Του Ορου Επι Β_ Θαλασσαιμιας

“…Ή κληρονομική ύπόστασις τής νεογνικές κιρρώσεως εξηγεί πολλάς περιπτώσεις οικογενοος νεο-γνικη^ς ηπατοπαθείας,, τοϋ παρελθόντος, η οικογενοϋς νεογνικές ηπατίτιδος,, , οικογενους νεογνικής κιρρώσεως,,, οικογενους α τρησίας η υποπλασίας τών ένδο-η έξω-ηπατικών χοληφόρων,,, οίκογενοος ενδοηπατικής χολοστάσεως,, κ.λ.π. (19,47,57).…”

“…Έπί παρατεινομένου νεογνικοο ίκτερου μετ ' ελλείψεως τής α ι ΑΘ, ανευρίσκονται, ως ελέχθη, χαρακτηριστικά ενδοκυττάρια έγ κλειστα εντός των παρεγχυματικών κυττάρων τοϋ ήπατος, ατινα χρώνυνται δια τοϋ αντιδραστηρίου υπεριωδικοΌ όξέος-^ρωστικής shiff (PAS) καί δέν καταστρέφονται υπό τής διάστασης. Τά έγκλειστα ταϋτα (εφεξής ενδοκυττάρια έγκλειστα PAS/(+)) θεωροϋνται ύπό τοο "urke ω ς τ & μονά ειδικά μορφολογικά ευρήματα τής ένδείας τή,ς α λ ΑΘ (19).…”