Casharka 54aad

 Habdhiska Neefsashada iyo Xanuunnada ku dhaca!

Casharka 54aad

Alpha-1 Antitrypsin Deficiency (AATD) – 

Waa yaraanshaha borotiinka sambabbada difaaca,  xaaladdani waxay ku timaadaa dhaxal,  jirka ma awooddayo inuu samaysto borotiin ku filan.Borotiinkani waxa uu innaga caawinayaa inuu difaaco samababbada,  ama uu ka hortago inuu soo gaaro dhaawac.

Alpha-1 Antitrypsin (AAT) waa borotiin uu beerku soo saaro. Shaqadiisa ugu weyn waa inuu difaaco sambabada si aysan waxyeello uga soo gaarin. Wuxuu sidaa ku gaaraa isagoo xakameeya faldajiyaha( enzym) la yiraahdo neutrophil elastase.

Neutrophil elastase waa waa faldajiyaha( enzym) ay sii daayaan unugyada difaaca jirka si ay ula dagaallamaan caabuqyada. Hase yeeshee, haddii aan la xakameyn, wuxuu burburin karaa unugyada caafimaadka qaba ee sambabada. AAT wuxuu joojiyaa faldajiyaha( enzym-kan) si uu u ilaaliyo caafimaadka sambabada.

Cudurka loo yaqaan Alpha-1 Antitrypsin Deficiency (AATD) waa dhibaato hidde-sideed ah (genetic) oo si weyn u saameysa sambabbada iyo beerka. Cudurkan wuxuu salka ku hayaa khalad ka dhasha hidde-sidaha qofka, taasoo horseedda in jirku uusan si sax ah u samaynin borotiinka loo yaqaan alpha-1 antitrypsin (AAT). Borotiinkan ayaa door aad u muhiim ah ku leh ilaalinta unugyada sambabbada, isagoo ka hortaga burburka ay keeni karaan faldajiyayaasha qaarkooda(enzymes-ka) qaarkood — gaar ahaan midka loo yaqaan loodsabata unugyada cad cad( neutrophil elastase).

Marka jirku la kulmo caabuq ama dhaawac, unugyada cadcad ee difaaca jirka (neutrophils) waxay soo daayaan faldajiye loodsan(enzyme-kan elastase), si uu u burburiyo waxyaabaha keena caabuqa ama unugyada waxyeelloobay. Laakiin haddii faldajiyaha(enzyme-kan) aan la xakameynin, wuxuu si toos ah u waxyeelleyn karaa unugyada caafimaadka qaba ee ku yaalla kiish haweedka.  Waa halkii ay AAT ka ciyaari lahayd doorkeeda – iyada ayaa caadi ahaan xanibta faldajiyaha(enzyme-kan), si aysan u dhicin dhibaato dheeraad ah.

Balse dadka qaba cudurka AATD, borotiinka AAT si sax ah looma sameeyo. Sababta ugu weyn waa in gene-ka (hidde-sidaha) uu yahay mid khaldan – gaar ahaan nooca la yiraahdo Z allele (PiZZ). Hidde-sidahan khaldan wuxuu sababaa in beerku sameeyo borotiin aan qaabkoodii dabiiciga ahaa lahayn. Borotiinkan khaldan wuxuu ku  xayirmayaa gudaha unugyada beerka, halkii uu ka bixi lahaa oo uu u gudbi lahaa dhiigga si uu u gaaro sambabbada. Markuu halkaas ku ururo, wuxuu keenaa dhaawac beerka ah sida hafeefka (hepatitis), bararka (cirrhosis) ama xitaa kansarka beerka (hepatocellular carcinoma).

Dhanka kale, sababtoo ah borotiinkii AAT si ku filan uma gaarayo sambabbada, difaac la’aani ayaa ka dhacda halkaas. Unugyada cad ee loodsan)Neutrophil elastase) oo aan la xakameynin wuxuu burburiyaa unugyada kiish haweedka (alveoli-ga), kuwaasoo ah meelaha hawadu ku beddesho ogsijiinta iyo kaarboon daayoksaytka. Burburkaasi wuxuu sababaa cudur la yiraahdo buufsanka samababbada (emphysema), kaas oo adkeeya sambabbada, kana hor istaaga inay si fudud u shaqeeyaan. 

Maxaa Sababa Cilladdan, Sideese u Dhacdaa?

1. Hiddo-side Khaldan (Tani waa sababta ugu weyn)

 Waxaa jira hiddo-side loo yaqaan SERPINA1, kaas oo amra jirka inuu soo saaro borotiinka Alpha-1. Haddii hiddo-sidahan uu isbeddelo (oo qofku ku dhaxlo si khaldan), beerka waxa uu sameynayaa  borotiin aan shaqayn ama mid ku xanniban gudaha beerka.

Borotiinkaasi ma gaari karo sambabbada si uu u ilaaliyo, waxaana uu bilaabaa inuu ku ururo beerka, taas oo keenta dhaawac beerka ah.Noocyada hiddo-sideyaasha khaldan: Waxa ugu badan waa Z iyo S.

Waxyaabaha  Kordhiya (Risk Factors)

Waxyaabaha hoos ku xusan waxay kor u qaadaan suurtagalnimada in calaamadaha cilladdan la arko.

1. Cabidda Sigaarka

Habka uu u saameeyo: Sigaarku wuxuu kordhiyaa burburinta unugyada sambabbada, kuwaas oo loogu talagalay inay kaliya ka shaqeeyaan marka jirku la dirirayo hambaabuqa. Laakiin marka borotiinka Alpha-1 uu yaryahay, wax difaac ah ma jiraan, taas oo keenta in sambabku si degdeg ah u burburo.

Natiijada: waxa ka dhasha cuddurada sida BUUFSAN-SAMBABEED(emphysema), xanuunnada raagga ee samababbada (COPD) 

2. Wasaqowga hawadda.

Saamaynta: wasaqowga hawadda qiiq, ama boodhka waxay cariyaan caabuqa  saameeya samababbada. 

Natiijada: Dadka qaba cilladdan waxay si sahlan u la kulmaan neef-qabad iyo dhibaatooyin kale oo sambabka ah la xidhiidha.

3. Isticmaalka Khamriga ama Cudurro Beerka Wax U Dhima (sida Hepatitis)

Habka ay wax u yeelaan: Waxyaabahani waxay kordhiyaan culayska fuula beerka, gaar ahaan marka borotiinka khaldan ee Alpha-1 uu  ku ururo.

Natiijada: Waxa dhici karta in beerku uu ku dhaco bararka beerka( cirrhosis).

4. Dhaxalka qoyska.

Sababta: Haddii waalidka ama qaraabo dhow uu qabo cilladdan, waxaa jirta fursad sare oo ah in qofku isna la dhaxlo.

Calaamadaha

 Habdhiska neefsashada. 

1:Dyspnea (shortness of breath): Neefsashada oo adkaata,  waana calaamadda ugu horreysa ee lagu arkayo.

 2:Chronic cough: qufac raagga, mararka qaar ay la socdaan xaaqo.

3:Wheezing codka qofka xiiqa taasoo ugu wacan xirranka hawo mareenka.

4:Waxaa kaloo lagu arkaa caabuqa ku soo laba noqnoqda habdhiska neefsashada. 

5:Qofka oo jimicsiga u dulqaadan kari waayo.

6Daal.

Beerka calaamadaha lagu arko(Hepatic Symptoms)

1:Waxa uu ku badan yahay carruurta marka loo eego dadka waa wayn. 

2:Ilmaha waxa lagu arkaa, jirka oo jaalla noqda, dheecaannada beerka kacsan.

3:Waxaa kaloo la arkaa hafeefka beerka (hepatitis)

4:Beerka oo barara.

5:Kansarka ku dhaca beerka.

Baadhitaanka.

1. Tijaabada Dhiigga (AAT Level):

Dhiigga ayaa laga qaadayaa si loo cabbiro heerka borotiinka Alpha-1 ee jirka. Haddii heerka borotiinka uu hooseeyo waxay muujinaysaa in ay jirto yaraanshaha borotiinka.  

2. Hubbinta hidda sidaha. (Genotyping):

Tani waa baaris lagu ogaanayo khaladaadka ku jira hidde-sidaha SERPINA1, oo ah midka samaynaya borotiinkan.

Waxa ay caddeynaysaa noocyada qaladaadka ee hidda sidaha sida ZZ, SZ, ama MZ oo ah noocyo ay kala xooggan yihiin darnaanshahooda.

3. Hubbinta Noocaynta Borotiinka (Phenotyping): waxa laga baadhayaa nooca saxda ee borotiinka ee jirka uu leeyahay. 

4. Baadhitaannada Sambabada (Pulmonary Function Tests): waxa la hubbinayaa shaqada samababbada.

5. Baadhitaanka Beerka: waxa la samaynayaa baadhitaannada shaqada beerka, waxa loo baahanayaa kombuyuutarka(ultrasound), hubbinta cadka beerka.

Daaweynta.

1. Joojinta sigaar cabista.

– Waa dhibta ugu weyn ee cudurka sarre u sii qaadi karta. Sigaarka waxa uu waxyeello xooggan gaarsiinayaa sambabada 

2. Ka hortag caabuqyada (infekshannada)

Qaadashada tallaalka sida kuwa hargabka, kuwa oof wareenta(pneumonia).

–  Gacmaha oo si joogta ah loo maydho, nadaafadana lagu dadaallo.

3. Sixitaanka hab-nololeedka oo la saxo.

Samaynta jimicsi fudud. Sida socod maalinle ah.

Cunista cunno nafaqo leh, ka fogaanshaha dufanka. Iyo khamriga.

– Khamriga si gaar ah ayaa looga digayaa, waayo wuxuu dhibaato weyn ku keenaa beerka.

4. Daawooyinka kala bixiya hawo mareenka(bronchodilators), waxay sarre u qaadaan hannaanka neefsashada. Waxa ka mid ah:Salbutamol, Tiotropium.

Daawooyinka istiiroydka  iyagoo hawo ahaan loo qaadanayo. Si markaasi loo yareeyo hafeefka. Waxa ka mid ah:Fluticasone, Budesonide.

Mararka qaar waxa loogu daraa  jeemis dile(Antibiotic).

5.  Waxa la siinayaa borotiinka Alpha-1(Augmentation Therapy)iyado xiddidka laga siinayo.  Waxa kaliya caawimaad siineysa samababbada,beerka waxba kama tarto.Inta badan, toddobaadkiiba mar ayaa la qaataa. Waxa ka mid ah:Prolastin-C, Aralast, Glassia.

6. Waxaa loo baahanayaa ogsijiin si markaasi sarre loogu soo qaado ogsijiinta bukaanka(ogsajiin Therapy).

7. Beddelka sambabada iyo beerka(Transplant), haddii xaaladda sii cuslaato Daawooyinka ay wax ka beddeli waayaan waxa loo baahanayaa beddelka sambabada iyo beerka.

References

1. American Thoracic Society / European Respiratory Society Statement (ATS/ERS 2003)

Am J Respir Crit Care Med. 2003;168(7):818-900

2. National Library of Medicine (NIH/Genetics Home Reference)

MedlinePlus – AATD

3. Mayo Clinic

AATD overview

4. Amboss Medical Platform

Clinical approach to AATD and augmentation therapy (subscription required).

5. Global Initiative for Chronic Obstructive Lung Disease (GOLD)

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