Baseline Analysis of a Young α-1-Antitrypsin Deficiency Liver Disease Cohort Reveals Frequent Portal Hypertension.

ABSTRACT:

Objectives

α-1-Antitrypsin (A1AT) deficiency is a common genetic disease with an unpredictable and highly variable course. The Childhood Liver Disease Research and Education Network is a National Institutes of Health, multicenter, longitudinal consortium studying pediatric liver diseases, with the objective of prospectively defining natural history and identifying disease modifiers.

Methods

Longitudinal, cohort study of A1AT patients' birth through 25 years diagnosed as having liver disease, type PIZZ or PISZ. Medical history, physical examination, laboratory, imaging, and standardized survey tool data were collected during the provision of standard of care.

Results

In the present report of the cohort at baseline, 269 subjects were enrolled between November 2008 and O

SUBMITTER: Teckman JH 

PROVIDER: S-EPMC4692167 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature