Alpha-1-antitrypsin deficiency (AATD) waa cudur hidde-side ah (qoysaska ka gudba) oo dhaawici kara sambabada, beerka, maqaarka iyo xididdada dhiigga. Dadka qaba AATD dhammaantood calaamado ma yeeshaan, xitaa dadka isku qoyska ah calaamadahoodu way kala duwanaan karaan.
Hidde-sideyaasha (genes) ayaa xakameeya sida unug kasta oo jirka ku jira u shaqeeyo. Qaar waxay go’aamiyaan astaamo sida midabka indhaha, halka qaar kalena kordhiyaan khatarta cudurro gaar ah, sida AATD.
Mid ka mid ah hidde-sideyaasha ayaa faraya beerka inuu sameeyo borotiin la yiraahdo alpha-1-antitrypsin (AAT ama A1AT). Borotiinkan wuxuu ku wareegaa dhiigga si uu uga ilaaliyo sambabada qiiqa, wasakhowga, uumiga iyo boodhka la neefsado.
Laakiin dadka qaba AATD, isbeddel ku yimaada hidde-sideyaasha (variants) ayaa keena in beerku:
- Uusan samayn AAT ku filan, ama
- Sameeyo AAT si khaldan u qaabaysan.
In ka badan 120 nooc oo isbeddel ah ayaa lala xiriiriyay AATD.
Saameynta Sambabada
Marka AAT-ku yaraado, sambabadu way fududaataa in la dhaawaco. Tani waxay keeni kartaa:
- Emphysema
- Bronchitis joogto ah
Labadan xaaladood waa noocyo ka mid ah COPD (cudurka sambabada ee xanniba hawada).
Waxay kaloo keeni kartaa bronchiectasis.
Calaamadaha Sambabada
- Neef qabatin.
- Neef xiiq (wheezing).
- Daal iyo tamar yari.
- Jimicsi awood yar.
- Qufac joogto ah oo xaako leh.
- Infekshan sambab oo soo noqnoqda.
Cudurka sambabada ee AATD waa mid dhif ku ah carruurta.
Saameynta Beerka
Beerka ayaa sameeya AAT. Haddii borotiinku si khaldan u samaysmo, wuxuu ku ururaa beerka, taasoo keenta:
- Fibrosis (nabar samays)
- Cirrhosis (beer-fashil heer dambe)
- Khatarta kansarka beerka oo kordha
Calaamadaha Beerka
- Jaundice (maqaarka iyo indhaha oo huruud noqda).
- Miisaan dhimis aan sabab lahayn.
- Rabitaan cunto oo yaraada.
- Lugaha ama caloosha oo barara.
- Daal.
- Dhiig matag ama dhiig saxaro ku jira.
Dhallaanka waxaa laga yaabaa inay yeeshaan:
- Jaundice aan baaba’in.
- Kaadi madow.
- Saxaro khafiif ah (midab khafiif ah).
Saameynta Maqaarka (Dhif)
- Burooyin xanuun leh oo ku samaysma baruurta hoosta maqaarka.
- Nabaro xanuun leh.
- Meelo kulul oo casaada.
Saameynta Xididdada Dhiigga (Dhif)
AATD waxay sababi kartaa barar ku dhaca xididdada dhiigga (vasculitis):
- Xanuun guud.
- Qandho.
- Miisaan dhimis.
- Daal.
Sababta
AATD waxaa keena isbeddel ku yimaada hidde-side la yiraahdo SERPINA1. Qof walba wuxuu ka dhaxlaa laba nuqul (mid hooyo, mid aabbe).
- Laba isbeddel → AATD buuxda.
- Hal isbeddel → qof qaade (carrier) ah, badanaa calaamado ma yeesho balse wuu gudbin karaa.
Noocyada Hidde-sideyaasha
Borotiinka AAT waxaa lagu calaamadeeyaa xarfo:
- M = caadi
- S ama Z = tayo ama tiro hoose
Tusaalooyin:
- PI*MM → khatar hoose.
- PI*MZ → khatar kordha haddii qofku sigaar cabo.
- PI*SZ → khatar dhexdhexaad ah.
- PI*ZZ → khatarta ugu sareysa (xaaladaha daran badankood).
- PI*null-null → AAT ma jiro; khatar sare oo sambab, balse beerku khatar ma laha.
Arrimaha Khatarta
- Taariikh qoys oo AATD ah.
- Qoys leh COPD ama emphysema.
- Sigaar cabid (khatarta ugu weyn).
- Asal ahaan Waqooyiga Yurub (balse dhammaan qowmiyadaha way ku dhici kartaa).
Dhibaatooyinka
Sambabada
COPD waxay inta badan ku bilaabataa ka hor 55 jir dadka AATD qaba, gaar ahaan kuwa sigaarka caba.
Noocyada ugu badan:
- Emphysema (hawadu ku xannibanto sambabada).
- Chronic bronchitis (tuubooyinka hawada oo barara oo xaako badan sameeya).
Beerka
- Fibrosis
- Cirrhosis
- Kansarka beerka (hepatocellular carcinoma)
Maqaarka
- Panniculitis (barar baruurta hoosteeda)
Xididdada Dhiigga
- Vasculitis (barar xididdada)
Ka Hortag
AATD lama hortagi karo, balse:
- Ha cabin sigaar.
- Jooji sigaar haddii aad cabto.
- Tijaabo hidde-side samee haddii qoyskaagu taariikh leeyahay.
Ogaanshaha
AATD waa cudur dhif ah oo marar badan si daahsan loo ogaado.
Tijaabooyinka:
- Baaritaan dhiig (heerka AAT).
- Tijaabo hidde-side.
- Spirometry (hawada sambabada).
- CT scan ama Raajo laabta.
- Baaritaan shaqada beerka.
Daaweynta
Daawo rasmi ah ma leh, balse calaamadaha waa la xakameyn karaa.
Sambabada
- Augmentation therapy (AAT lagu shubo xididka toddobaadle).
- Daawooyin la neefsado (bronchodilators, steroids).
- Antibiyootiko marka infekshan jiro.
- Oxygen therapy.
- Pulmonary rehabilitation.
- Qalliinka (lung transplant ama lung volume reduction).
Beerka
- Kormeer joogto ah.
- Daawooyin.
- Liver transplant haddii xaaladdu gaarto heer dambe.
- Daawooyin tijaabo ah sida fazirsiran (wali daraasad ku jira).
AAT lagu shubo ma daaweyso cudurka beerka.
Maqaarka
- Dapsone.
- Doxycycline.
- Mararka qaar AAT infusion.
Xididdada Dhiigga
- Corticosteroids.
- Mararka qaar qalliinka haddii aneurysm jiro.