ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)

Question 1

What is  ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)?

Accepted Answer

rare (1-5:10000)
autosomal recessive
mutation in the SERPINA1 gene
> 70 genetic variants (PI types) therapy: risks of smoking ! aggresive treatment of pulmonary infections enzyme replacement (pooled human blood or recombinant AAT) liver transplantation

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Alpha-1-Antitrypsin-Mangel

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 613490

Question 4

Which enzymes are involved?

Accepted Answer

alpha-1-antitrypsin

Disease	ALPHA-1-ANTITRYPSIN DEFICIENCY (AATD)
Synonym	ANTITRYPSIN; ALPHA(1)-ANTITRYPSIN DEFICIENCY; PROTEASE INHIBITOR 1
OMIM	613490 OMIM = Online Mendelian Inheritance of Men
Orphanet	60
Protein (UniProt)	alpha-1-antitrypsin
Gene locus	14q32.13
ICD	E88.0
Summary	rare (1-5:10000) autosomal recessive mutation in the SERPINA1 gene > 70 genetic variants (PI types) therapy: risks of smoking ! aggresive treatment of pulmonary infections enzyme replacement (pooled human blood or recombinant AAT) liver transplantation
Laboratory findings	alpha-1-Antitrypsin dec (serum) Transaminases (ASAT/ALAT) inc (plasma)
Symptoms	cholestasis cirrhosis or fibrosis of liver dyspnea emphysema failure to thrive gastrointestinal hemorrhage (bleeding) jaundice liver carcinoma liver failure liver involvement or dysfunction no clinical symptoms (probably) onset, adolescent onset, adulthood onset, neonatal pancreatitis pneumonia portal hypertension