Yu no bɔt dis jenɛtik sik we kin afɛkt di lɔng ɛn di liva? (Alfa-1 Antitripsin Dɛfisiɛns)

Yu kin gɛt kɔf bak ɛn i nɔ kin izi fɔ yu fɔ blo we dɔn de fɔ lɔng tɛm? Yu go tink se dis na nɔmal tin. Bɔt sɔmtɛm, wan rili impɔtant rizin kin de biɛn dɛn sik ya we wi nɔ yɛri bɔku bɔt. Tide wi go tɔk bɔt dis kayn kɔndishɔn. Dat na Alfa-1 Antitrypsin Dεfisiεns, כ `(Alfa-1 Antitrypsin Dεfisiεns)`. Sɔm pipul dɛn kin kɔl am bak "Alpha-1" fɔ shɔt.

Fɔ tɔk am simpul wan, wetin na Alfa-1?

Alfa-1 na wan sik we wi kin gɛt frɔm wi mama ɛn papa. wetin de apin insay dis na dat wi bכdi nכ kin prodyuz inof protin we dεn kכl alfa-wan antitrypsin `(AAT)`, we na protin we de protεkt wi lכng dεm. Tink bɔt dis `AAT` protin as gad fɔ wi lכng. We dis gad lɔs, wi lɔng dɛn kin pwɛl pasmak.

So, pɔsin we gɛt Alfa-1 stetɔs kin gɛt mɔ risk fɔ gɛt sik dɛn na in lɔng, mɔ di ɛmfisema (we kin pwɛl di ay sak dɛn na di lɔng dɛn), sirosis (we kin gɛt skata na di liva), ɛn pannikulitis, we na wan sik we nɔ kin apin na di skin. Sɔntɛnde, dɛn kayn tin ya kin mek pɔsin in layf de pan denja.

Fɔ dis rizin, sɔm pipul dɛn kin kɔl dis sik bak "jɛnɛtik COPD".

Aw dis sik kin apin? Udat dɛn de pan denja pas ɔlman?

Fɔ mek wi go gɛt Alfa-1, wi nid fɔ gɛt di abnɔmal jin frɔm wi mama ɛn papa dɛn ɔl tu. Fɔ tɔk am simpul wan, jin na di instrɔkshɔn dɛn we de sho aw wi bɔdi de wok. If smɔl chenj de pan dɛn instrɔkshɔn ya, di wok we di bɔdi de du kin chenj.

insay Alpha-1, wan mכtεshכn na di jin we dεn kכl `SERPINA1` de mek prכblεm na di prodakshכn fכ di `AAT` protin. as a rizulכt, כ di `AAT` protin nכ de prodyuz in inof kwantiti, כ di protin we de prodyuz de tek di rכng shep. We i tek di rɔng shep, da prɔtin de nɔ kin ebul fɔ kɔmɔt na di liva ɛn travul tru di blɔd to di lɔng dɛn. Dɔn da prɔtin de we nɔ shep fayn kin stɔp na di liva, ɛn dis kin pwɛl di liva. Dɔn bak, bikɔs no prɔtin nɔ de fɔ go na di lɔng dɛn, di lɔng dɛn bak kin gɛt prɔblɛm.

Bɔt sɔm pipul dɛn kin gɛt dis jin we nɔ fayn frɔm wan mama ɔ papa nɔmɔ (dɛn mama ɔ dɛn papa). Wi de kɔl dɛn "carriers." pan tap we dεn bכdi nכmal fכ prodyuz inof `AAT` protin fכ protεkt dεn lכng dεm, dεn stil de pan risk fכ damej lכng. Dis risk kin pasmak if dɛn de smok.

Aw dis kin afɛkt di lɔng ɛn di liva?

Fɔ ɔndastand dis, lɛ wi tek wan smɔl ɛgzampul.

wi `AAT` protin de mek na di liva. Dɔn i kin travul tru di blɔd to di lɔng dɛn. wi lכng dεm gεt wan εnzym we dεn kכl `Neutrophil Elastase` we de εp dεm fכ fכt infεkshכn. Tink bɔt dis ɛnzaym as sojaman we rili wam ɛn we sabi wok. I de pwɛl di infɛkshɔn dɛn. Bɔt we i dɔn, sɔmbɔdi fɔ stɔp am. If nɔto dat, i kin bigin fɔ atak wi wɛlbɔdi lɔng sɛl dɛn bak.

dat "stכp" tin, dat "off switch" fכnshכn, na wi `AAT` protin de du am. I tan lɛk se di kɔmanda de tɛl di sojaman se, "Okay, dat dɔn inof, stɔp."

Naw, fo pesin we get Alpha-1, dis `AAT` ofisa de lack fo di bodi. Dɔn nɔbɔdi nɔ de fɔ stɔp da faya faya sojaman de (`Neutrophil Elastase`). I kin kɔntinyu fɔ atak di lɔng dɛn. dis de mek di protin `Elastin` we de insay di lכng dεm de dכn. dis elastin na in de gi di ay sak dεm (alveoli) na di lכng dεm dεn elastik εn trεnk lεk rכba bכnd. We i lɔs, di ay sak dɛn kin wik ɛn dɛn kin sag lɛk balyɔn we dɔn pul di briz. Dis na wetin wi kɔl `Emphysema` . Dis kin mek i nɔ izi fɔ blo ɛn gɛt ɔksijɛn.

Wetin kin apin to di liva difrɛn smɔl. fכ sכm jεnεtik difεkt dεm, di `AAT` protin de fכm insay di rכng shep. Lɛk pepa we dɛn nɔ fol di rayt we. Bikɔs ɔf dis rɔng shep, di prɔtin nɔ kin ebul fɔ kɔmɔt na di liva ɛn i kin stɔp insay di liva. We tumɔs prɔtin kin stɔp lɛk dis, di liva kin pwɛl ɛn i kin bigin fɔ gɛt skata. Dɛn kɔl dat sirosis .

Wetin na di sayn dɛm fɔ Alfa-1 sik?

Di simptom dɛm wae Alpha-1 kin kam wit kin difrɛn difrɛn wan fɔ di ɔrgan na di bɔdi wae dɛn afɛkt. Bɔku tɛm, dɛn tin ya kin fiba di sayn dɛm fɔ COPD (Chronic Obstructive Pulmonary Disease).

Aw fɔ no bɔt dis sik?

Di men we fɔ no if pɔsin gɛt Alfa-1 na fɔ tɛst blɔd . Bikɔs di sayn dɛm kin tan lɛk ɔda sik dɛm, sɔmtɛm i kin tek sɔm tɛm fɔ no di kɔrɛkt tin bɔt di sik. If yu gɛt liva simptom, ɔ if dɛn dɔn no se yu gɛt COPD ɛn yu simptom nɔ de bɛtɛ pan ɔl we dɛn de trit yu, yu dɔktɔ kin disayd fɔ tɛst yu fɔ Alpha-1.

Di tɛst dɛn we dɛn kin du na:

• bכdi tεst: dεn go tεst yu bכdi fכ di lεvεl fכ di protin `AAT`. If di lɛvɛl smɔl, dɛn go du jɛnɛtik tɛst fɔ si if yu gɛt jɛnɛtik difrɛns we gɛt fɔ du wit Alfa-1.
• Imej tɛst: We dɛn tek ɛkstrem rayt ɔ CT skan na di chɛst, i kin no aw di lɔng dɛn dɔn pwɛl ɛn usay i dɔn pwɛl.
• Pulmonary function tests: Pan ɔl we dɛn tin ya nɔ kin ebul fɔ no Alpha-1 dairekt wan, dɛn kin gi yu dɔktɔ wan aidia bɔt aw yu lɔng dɛn de wok fayn fayn wan.
• Liva Ultrasound ɔ FibroScan®: If dɛn tink se di liva dɔn pwɛl, dɛn kin du dɛn skan ya fɔ chɛk if skata de na di liva.
• Liva Bayopsi: If di liva damej bad bad wan, dɛn kin tek wan rili smɔl tisu frɔm di liva ɛn chɛk am fɔ no di rayt we aw di liva dɔn pwɛl.

Wetin na di tritmɛnt dɛm fɔ Alpha-1?

Pan ɔl we no patikyula mɛrɛsin nɔ de fɔ Alfa-1 sindrom, bɔku tritmɛnt dɛn de we kin kɔntrol di sik dɛn, ridyus di ɔgan dɛn we kin pwɛl, ɛn mek yu layf bɛtɛ.

Di we aw dɛn kin trit dɛn kin difrɛn difrɛn wan bay di ɔgan we dɛn afɛkt:

Tritmɛnt fɔ di lɔng dɛn

• Augmentation Therapy: Dis na wan patikyula tritmɛnt fɔ Alfa-1. i involv fכ klin di `AAT` protin we dεn tek frכm hεlty bכdi dכna dεm εn gi am to di bכdi tru wan vein, we lεk salin. Pan ɔl we dis nɔ kin ebul fɔ rivɛns di damej we dɔn ɔlrɛdi apin, bɔku pan am kin stɔp ɔ kɔntrol di damej we go apin to di lɔng dɛn tumara bambay.
• Mɛrɛsin: Dɛn kin gi di wan dɛn we gɛt COPD mɛrɛsin lɛk inhala , lɛk bronchodilators fɔ mek i izi fɔ blo.
• Ɔksijɛn tɛrapi: If di ɔksijɛn lɛvɛl na di blɔd nɔ bɔku, dɛn kin gi ɔda ɔksijɛn tru wan smɔl tiub we dɛn put na di nos ɔ wan mask we dɛn kin yuz fɔ mek yu mɔt.
• Pulmonary rihabiliteshɔn program dɛm: Dɛn kin gi trenin fɔ mek i izi fɔ blo tru ɛksesaiz fɔ blo ɛn ɔda ɛksesaiz dɛm fɔ yu bɔdi.
• Lɔng transplant: If di lɔng dɛn dɔn pwɛl bad bad wan, i kin nid fɔ transplant di lɔng dɛn we gɛt wɛlbɔdi as las tin fɔ du.

Tritmɛnt fɔ di liva

Dɛn kin trit di liva we dɔn pwɛl bay we dɛn gɛt sɔm sayn dɛn. Bɔt di wangren we fɔ mɛn di sik we dɛn kɔl Alpha-1 liva kpatakpata na fɔ transplant di liva . we dεn transplant hεlty liva, di liva de stat fכ prodyuz di kכrekt `AAT` protin.

Wetin a kin du fɔ liv wɛl wit Alfa-1?

Ivin if dɛn no se yu gɛt Alfa-1, nɔto di ɛnd fɔ yu layf. Bɔku tin dɛn de we yu kin du fɔ mek yu ɔgan dɛn nɔ pwɛl pasmak.

Apat frɔm dat, yu fɔ no bak bɔt dɛn tin ya:

• Stay away frɔm ples dɛn we pipul dɛn de smok. (Avɔyd sɛkɔn-han smok)
• Nɔ blo tin dɛn we go ambɔg yu lɔng, lɛk dɔst ɛn kemikal. If yu de si dɛn kayn tin ya na yu wokples, wɛr mask we de protɛkt yu.
• Stɔp fɔ drink rɔm kpatakpata ɔ stɔp fɔ drink am as yu ebul. Rɔk kin mek di liva pwɛl mɔ ɛn mɔ.
• Nɔ yuz mɛrɛsin fɔ mek yu fil pen (e.g., tek tumɔs paracetamol) ɔ ɔda ɔda mɛrɛsin dɛn we kin afɛkt di liva we yu nɔ go to yu dɔktɔ.
• Gɛt ɔl di vaysin dɛn we yu nid. I impɔtant mɔ fɔ gɛt vaysin agens sik dɛn lɛk nyumonia, influenza (flu), COVID-19, ɛn ɛpatitis A ɛn B, we kin afɛkt di liva.
• Was yu an ɔltɛm, klin, ɛn protɛkt yusɛf frɔm infɛkshɔn.
• If pɔsin na yu famili gɛt Alfa-1, i go fayn fɔ mek yu du tɛst yusɛf. Tɔk to yu dɔktɔ bɔt am.
• If yu gɛt Alfa-1 ɔ yu na pɔsin we gɛt di sik, i rili impɔtant fɔ tɔk to pɔsin we de advays yu bɔt yu jɛnɛtiks if yu de plan fɔ bɔn pikin.

Ustɛm yu fɔ go to dɔktɔ?

• If yu gɛt di lɔng ɔr liva simptom dɛm we wi bin dɔn tɔk bɔt.
• If dɛn dɔn no se pɔsin na yu famili gɛt Alfa-1.
• If dɛn dɔn no se yu gɛt COPD ɔr asma ɛn dɛn dɔn trit yu, bɔt yu sik nɔ de bɛtɛ, tɔk to yu dɔktɔ bɔt fɔ gɛt Alpha-1 tɛst.
• If yu dɔn gɛt Alfa-1, go to yu dɔktɔ wantɛm if nyu sayn dɛn de ɔ di sayn dɛn we yu dɔn gɛt dɔn wɔs.

Fɔ liv wit Alfa-1 kin tranga. Bɔt if yu no di rayt tin, trit yu, ɛn yu de liv yu layf di rayt we, yusɛf go ebul fɔ liv fayn layf. Di bɛst we fɔ du dat na fɔ tɔk to yu dɔktɔ opin wan ɛn kam wit wan plan we go wok fɔ yu.