| Autor: |
Ozdemir L, Ozdemir B, Gegin S; Savaş Gegin, Samsun Training and Research Hospital, 55090 İlkadım/Samsun, Turkey, geginn@hotmail.com. |
| Jazyk: |
angličtina |
| Zdroj: |
Croatian medical journal [Croat Med J] 2024 Oct 31; Vol. 65 (5), pp. 450-453. |
| Abstrakt: |
Alpha-1 antitrypsin deficiency (AATD) is a rare autosomal co-dominant disease caused by mutations in the SERPINA1 gene. The alleles most frequently associated with AATD are protease inhibitors S and Z. Here, we report on a 35-year-old woman diagnosed with Kartagener's syndrome and subsequently referred for bronchiectasis testing. She was identified with a hitherto unreported AATD mutation: a heterozygous variant rs1460874866 in a previously undefined exon 4 (NM_001127701.1) of the SERPINA1 gene. Although Kartagener's syndrome is a genetic cause of bronchiectasis, patients with this syndrome are recommended to undergo AATD testing. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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