Thil danglam tak, ke leh ke sei tak tak... Hei hi Marfan Syndrome a ni mai thei!

I ṭhiante aiin i sang zawk hle a, kut leh ke sei zawkin i inhria bawk em? A nih loh leh i ruhte chu a chhe awlsam em? Naupan lai atang tawhin glasses i bun a ngai tawh em? Chûng thil pakhat emaw, a aia tam emaw chu i tân a hman theih chuan, tûn laia kan sawi tâk dinhmun, Marfan Syndrome an tih hi i hriat a pawimawh hle mai thei. Hei hi hriat loh deuh mahse, awlsam takin sawi ila.

A awlsam zawngin Marfan Syndrome hi eng nge ni?

Kan taksa hi in mawi taka sak angin han ngaihtuah teh. He building brick te, bang te leh a chung te hi cement mortar hmanga vawn tlat leh tihchak a ni. Chutiang bawkin kan taksaa thil awm zawng zawng, taksa peng hrang hrang, ruh, ruh leh thisen kalna kawngte inzawmkhawmtu, an mamawh chakna leh inthlak danglam theihna pe thei tissue chi khat bik a awm bawk. Damdawi lamah chuan hei hi "connective tissue" kan ti thin. Hengte hi kan taksaa ‘gum’ ang mai an ni.

Marfan Syndrome hi genetic condition a ni a. Hetiang natna vei hian connective tissue chak lo tak a nei a, a dik zawk chuan a hlim lutuk a ni. Chumi awmzia chu connective tissue chu a chak lo zawk a, a elastic lo zawk tihna a ni. He connective tissue hi taksa pum puiah a awm avangin Marfan Syndrome hian kan taksa peng engemaw zat a nghawng thei a ni. Thinlung, thisen kalna kawng, mit, ruh, leh ruhte a nghawng thei ber a ni .

Hei hi pianpui natna ni mahse, a chang chuan a lan chhuah dan a lang a, kum naupang takah diagnosis siam a ni.

Hei hi eng symptoms nge ni thei ang?

Hetah hian hriatthiam tur pawimawh tak chu Marfan Syndrome vei zawng zawng hian symptom set inang an nei vek dawn lo tih hi a ni. Mi tin a inang lo hle. Mi thenkhat chuan symptoms tam tak an nei thei a, thenkhat erawh chuan tlemte chauh an nei thei bawk. Chuvangin doctor-te chuan hei hi "variable expression" nei condition an ti a ni.

Amaherawhchu, mizia inang deuh deuh hmuh theih a awm. Hmun hnih ah then ila.

Heng mize lian pahnih bakah hian taksa pianhmang nena inzawm mizia dang hmuh tur a awm fo bawk.

Marfan Syndrome avanga harsatna awm thei te chu engte nge ni?

He natna hi uluk taka enkawl a nih loh chuan hun kal zelah harsatna lian tak tak a awm thei a ni.

Thinlung leh thisen kalna kawngah nghawng a neih theih dan

Hengte hi Marfan Syndrome-a ngaihven ngai ber complication te an ni.

• Aortic dissection: Hei hi a hlauhawm ber a ni. Aorta bang hi layer engemaw zat atanga siam a ni. He bang chhung lam layer-a rang taka te hian layer inkarah thisen a chhuak thei a ni. Hei hi nunna atana hlauhawm tak a ni a, emergency surgery a ngai a ni.
• Heart valve natna: Lung chhunga valve te chu a chak lo va, a khar tha lo thei a, thisen chu hnunglam hawiin a luang chhuak thei a ni.
• Thinlung lian: Hun kal zelah thinlungin a thawhrim a ngaih avangin thinlung ruh a lian thei a, a chak lo thei bawk.
• Heartbeat irregularities (Arrhythmia): Heartbeat hi a mumal lo thei hle.
• Brain aneurysms: Thluak chhung emaw, a chhehvel emawa thisen kalna kawng chak lo tak chu balloon ang maiin a bulge thei.

Mit a nghawng dan

• Mit (cataract) a awm
• Glaucoma natna (Glaucoma) a awm
• Retinal atanga chhuak (retinal detachment) a awm

Lung chunga nghawng a neih dan

Connective tissue chak lohna hian lung pawh a nghawng thei bawk.

• Asthma natna a ni
• Lung natna (Bronchitis, Pneumonia) .
• Lung tlu (Pneumothorax) .

Engvangin nge Marfan Syndrome hi a lo awm? Eng nge a chhan?

Hei hi a chhan ber chu genetic mutation vang a ni. Fibrillin-1, kan taksa connective tissue-a awm a ni.Protein siam chhuahna control tu gene a awm a, chu chu ``fibrillin'' an ti a, chu chu ``FBN1'' gene an ti a. Marfan Syndrome vei te hian he ``FBN1'' gene ah hian inthlak danglamna engemaw tak, a nih loh leh defect (variant) an nei a. Hei hian taksain fibrillin protein chak lo tak a siam chhuak thin.

• A tam zawkah chuan (75% vel) chu gene chhia hi nu leh pa pakhat atanga rochun a ni. Nu leh pa zinga pakhatin he natna hi an neih chuan an fate pawhin he natna hi an rochun theihna chance 50% an nei a ni.
• A bak 25% ah chuan naupang hian nu leh pain he natna hi an nei lo a nih pawhin he genetic mutation hi a nei thei a ni. A chhan dik tak erawh hriat a la ni lo.

Doctor-te hian engtin nge hei hi an hmuh?

Marfan Syndrome hian taksa peng tam tak a nghawng avangin, a dik taka hriat theih nan specialty hrang hranga doctor team a ngai mai thei . I doctor chuan hengte hi a zawm tlangpui ang:

• I damdawi lam chanchin leh a lan chhuah dan zawh: I rilru hahna eng pawh, mit hmuhna lama harsatna, emaw, ruh natna emaw zawh.
• Taksa enfiahna kimchang: a san zawng, a rih zawng, a ke leh a ke sei zawng, hnungzang na a awm leh awm loh, leh a rilru pianzia te a teh thin.
• Chhungkaw damdawi lam chanchin zawh: Chhungkaw zingah hian heng symptoms hi tu emaw chuan an nei tawh em tih te, emaw, cardiac arrest nghal vanga thi an awm em tih te zawhna.
• Test bik neihna tur referral:
• Echocardiogram (Echo test): Hei hi test pawimawh ber a ni. Thinlung leh aorta dinhmun a enfiah thei a, valve hnathawh dan pawh a enfiah thei bawk.
• Electrocardiogram (ECG): Heart rhythm mumal lo a awm leh awm loh enfiah thin ang che.
• CT emaw MRI scan: Aorta sei zawng zawng leh thisen kalna kawng dang zawng zawng chipchiar takin en rawh.
• Mit enfiahna: Mit lens awmna hmun leh harsatna dangte hriat chian.
• Genetic test: Thisen sample lak theih a ni a, `FBN1` gene-ah hian chhiatna a awm leh awm loh hriat theih a ni.

Hei hi eng enkawlna nge ni?

A hmasa berah chuan Marfan Syndrome hi damdawi a awm lo. Mahse, lungngai suh. Tha taka enkawl theih a ni a, harsatna awm thei tur ven theih a ni a, nun pangngai leh hrisel tak neih theih a ni bawk. Enkawlna tum ber chu symptoms control leh complication hlauhawm tak tak ven hi a ni.

Damdawi chi hrang hrang

• Beta-blockers: Heng damdawi te hian heart rate a ti hniam deuh a, thisen sang a ti hniam a, aorta pressure a ti tlem bawk. Hei hian aorta dilates rate a ti hniam thei a ni.
• Angiotensin II Receptor Blockers (ARBs): Heng damdawi te hian aorta venhimna kawngah pawh a pui bawk.

Routine Monitoring neih thin a ni

Hei hi management lama thil pawimawh ber a ni. Doctor hnenah regular taka hmuh a ngai a, test neih a ngai bawk.

• Lung leh thisen kalna kawng: Kum khatah vawi khat tal echo test neih a ni a, aorta lian leh te a inthlak danglam em tih enfiah thin a ni.
• Mit: Mit lam doctor hnenah i mit enfiah fo tur a ni.
• Skeletal system: I ruhro ang chi thil te pawh i ngaihven a ngai bawk.

Taksa tihchak dan tur thurawn

Marfan Syndrome vei tan chuan exercise hi a tha a, mahse exercise zawng zawng hi a tha vek lo. Exercise nasa tak thenkhat chuan aorta ah pressure a siam thei. Chuvangin, i doctor nen inbia a, eng exercise nge i tana tha ber tih hriat a pawimawh hle.

Lung Surgery neih a ni

Aorta chu hlauhawm taka a zau a nih chuan doctor-te chuan a chak lo lai chu la chhuakin, a chhe hmain graft dah turin operation neih a rawt mai thei. Heart valve a chhiat chuan siamthat emaw thlak emaw turin operation tih theih a ni.

Marfan Syndrome vei nun leh rilru hriselna

Marfan Syndrome natna vei hi a chang chuan a harsa thei hle. Doctor hmuh reng te, damdawi ei te, leh nunphung tihdanglam reng te hi a hahthlak thei hle.

Tin, chubakah, .

• I taksa pianzia ngaihtuah hian lungkhamna a thlen thei.
• Taksa na leh hah fo thin.
• Infiamna i khelh theih loh lai te, tlan kual theih loh te, midang ang bawka inkhelh theih loh te hian khawtlang nunah inhlat tak angin i inhria thei a ni.
• Hmalam hun leh chhungkaw din ang chi thilte hian hlauhna a thlen thei a ni.

Heng avang hian rilru lama harsatna, lungkhamna leh lungngaihna te a awm theihna a awm a ni .

Marfan Syndrome chungchanga hriatna leh enkawlna thar kan neih avangin tunah chuan he natna vei dam rei zawng hi mi pangngai dam rei zawng nen a inang tawh hle. A pawimawh ber chu natna hi hriat hmasak a, uluk taka enkawl hi a ni.