Article
[DEFI-ALPHA cohort and POLYGEN DEFI-ALPHA clinical research hospital programme. A study about clinical, biological and genetics factors associated with the occurrence and the evolution of hepatic complications in children with alpha-1 antitrypsin deficiency].
Revue des maladies respiratoires - 1 Sept 2015
Joly P, Restier L, Bouchecareilh M, Lacan P, Cabet F, Chapuis-Cellier C, Francina A, Lachaux A
Abstract excerpt
INTRODUCTION: The alpha-1 antitrypsin (α1-AT) deficiency, most frequently caused by homozygosity for the Z variant (SERPINA1: c.1096 G>A; Glu342Lys), can give rise to two clinical patterns: (i) respiratory impairment with emphysema (mainly in adulthood) because of a pulmonary quantitative defect in anti-elastase activity; (ii) hepatic impairment (mainly in childhood) due to the misfolding of the PiZ protein which...
Topics
- Adolescent
- Biomedical Research
- Child
- Child, Preschool
- Cohort Studies
- Disease Progression
- Female
- Genetic Predisposition to Disease
- Hospitals
- Humans
- Hypertension, Portal
- Liver Cirrhosis