Här är programmet med presentation av föreläsarna och abstracts.

Professor Maurizio Luisetti
Professor Robert Stockley
Maurizio Luisetti
Centre for Diagnosis of Inherited
Alpha1-antitrypsin Deficiency.
Institute of Respiratory Diseases IRCCS
San Matteo Hospital
Foundation University of Pavia, Italy.
Maurizio Luisetti, professor of respiratory
medicine (acknowledgment by
University of Turin). As chief of Center
for Diagnosis of Alpha1-antitrypsin
deficiency, IRCCS Policlincio San Matteo,
he is also an experienced teaching
professor. His scientific interest
specially comprises alpha1-antitrypsin
deficiency, genetics of interstitial lung
disease and of common COPD, pulmonary
alveolar proteinosis, markers
of elastin degradation.
DIAGNOSTICS OF ALPHA 1
-
ANTITRYPSIN DEFICIENCY
The laboratory diagnosis of alpha 1
-antitrypsin
deficiency has evolved over the
last 40 years, since the first cases of
the disorder were reported. It is currently
performed in specialized centres,
and it requires a combination of
different biochemical methods: nephelometric
alpha 1
-antitrypsin concentration,
isoelectric focusing, genotyping,
and sequencing. The availability of
matrices such as the dried blood spot
have facilitated the implementation of
laboratory analyses for alpha 1
-antitrypsin
deficiency, but have also challenged
laboratories to develop more reliable
and reproducible techniques starting
from dried blood.
In this setting I will also report on
the diagnostic flow charts for alpha 1
-
antitrypsin deficiency detection that
have been accordingly developed.
Professor Robert Stockley MD DSc FRCP
Professor of Medicine Queen Elizabeth
Hospital Birmingham, UK
Professor Stockley has a longstanding
interest in COPD with particular
reference to airway inflammation,
proteinases and anti-proteinases, and
especially the role of the neutrophils,
bacteria and exacerbations and lectures
widely on these aspects.
Professor Stockley organises the UK
alpha-1-antitrypsin deficiency database
and established the International
registry for the deficiency. He is currently
co-ordinating multi-centre trials
of augmentation therapy and alveolar
regeneration in these patients.
Professor Stockley is also a frequent
writer and has edited several books.
He is a highly praised member of the
editorial board of many journals and
has supervised 35 higher degree theses
in clinical and basic science.
Augmentation therapy with
Prolastina.
EXACTLE study.
Augmentation therapy for Alpha-1-antitrypsin
therapy has been available in
several countries for over 20 years although
no effectively powered efficacy
trial has been performed. This largely
relates to the large number of patients
needed to complete a study powered
on the FEV1. However Emphysema is
best detecetd by CT scanning and this
measure relates well to the symptoms
and exercise capacity of the patient
and is the best predictor of mortality.
The EXACTLE study compared
the effect of augmentation vs placebo
on the progression of emphysema as
quantified by CT scanning.
Dr. Heinz Steveling
Dr. med. Thomas Köhnlein
Heinz W. Steveling
Assistant medical Director Department
Pulmonology Ruhrlandklinik University
Essen-Duisburg
The importance of early diagnosis
in alpha-1 antitrypsin
deficiency and the augmentation
therapy.
The Alpha-l antitrypsin deficiency
(A1AD) is a genetic disorder resulting
in severe lung emphysema. The current
explanation for this rapidly developing
disease in the third or fourth life
decade of a patient is the imbalance
between proteases and antiproteases
in lung tissue and small airways.
Most of the patients are discovered
by chance when their doctor thinks of
this disease. The younger age, the predominance
of the lower parts of the
lung and a fami1y history of emphysema
and unexplained liver problems
are hints to this disease.
The diagnosis must be confirmed by
measuring the level of A1A (