[Two sisters with lung emphysema].

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Article

[Two sisters with lung emphysema].

Nederlands tijdschrift voor geneeskunde - 1 Jan 2000

Piscaer I, Franssen F M E, Ten Hacken N H T, Wouters E F M, Janssen R

Abstract excerpt

BACKGROUND: α1-antitrypsin is an antiprotease that is mainly produced in the liver; it plays a crucial role in the protection of lung parenchyma against the destructive effects of proteases. Mutations in the α1-antitrypsin gene can cause α1-antitrypsin deficiency. Individuals homozygous for the Z-genotype have drastically lowered serum α1-antitrypsine concentrations and often develop lung emphysema at an early...

Topics

Adult
Female
Humans
Netherlands
Phenotype
Pulmonary Emphysema
Siblings
alpha 1-Antitrypsin Deficiency

Source

Open in PubMed

Identifiers

PMID: 27879179

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