Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies

Alpha-1-antitrypsin Deficiency: Biology, Diagnosis, Clinical Significance, and Emerging Therapies is the authoritative reference on AATD, providing standards for diagnosis, monitoring, treatment and appropriate avenues of research.

The book covers the disease from basic biology and epidemiology, to clinical impact, and includes the understanding of the natural history of the disease and the significant advances that have been made in the last 20 years, including the three-dimensional structure of the molecule, its broad biological activity and improved therapeutic options, including replacement therapy and gene therapy.

The editors have recruited international experts in the field to contribute evidence-based chapters and insights on future developments in the understanding of this disease.

Provides documentation of the variations in clinical presentation and pathology in a single referencePresents new insights by pulling together the advances in the understanding of the structure and function of alpha1-antitrypsin deficiency with the genetic variants that cause the diseaseAllows for easy reference for the diagnosis of AATD to lead to better therapeutics

1. Historical perspective
2. The Swedish AAT screening study: What we have learnt-from birth through to young middle age
3. Gene regulation
4. AAT variants
5. AAT structure and function
6. Novel biological functions of A1AT
7. AATD and lung disease
8. Alpha-1-Antitrypsin Deficiency Liver Disease
9. AATD epidemiological studies and other AATD associated diseases
10. THORACIC CT IMAGING IN AATD
11. Animal models of alpha-1 antitrypsin deficiency
12. Establishing European Registries for AATD and clinical trials for lung disease
13. Establishing the USA Registry: logistics, impact and early clinical trials
14. Gene therapy
15. The future of AAT research