hATTR Amyloidosis i nei em? Doctor appointment hmasa ber atan i inbuatsaih ang u

' hATTR amyloidosis ' tih natna hmuh tur awm lo tak i neih thu i hriat hian hlauhna, buai leh zawhna tam tak neih hi thil pangngai a ni. Hlau suh, a hming hi a buaithlak deuhin a ri a nih pawhin. He thuziak ah hian a awlsam zawnga sawifiah kan tum ang. A bik takin he natna chungchangah hian doctor i hmuh hmasak ber a nih chuan, a inbuatsaih dan tur tha ber kan sawi dawn a ni.

A awlsam zawngin hATTR Amyloidosis chu eng nge ni?

A awlsam zawngin sawi ila, kan taksaa TTR an tih gene a inthlak emaw, a inthlak danglam emaw avanga rochun natna a ni. He genetic mutation hian kan taksaah protein pangngai lo amyloid an tih chu a siam a.

Drain khar ang maiin han ngaihtuah teh, heng amyloid protein te hi zawi zawiin kan thinlung, kal, nervous system leh digestive system ang chi organ pawimawh tak takah an lo awm tan ta a ni. An lo pung chhoh chuan chu taksa pengte chuan an hna pangngai chu an thawk tha thei lo. Chutah chuan symptoms a lo lang tan ta a ni.

Doctor pan hmain engtin nge i inbuatsaih thin?

Doctor appointment hmasa ber hmain inbuatsaihna tlem tal neih a pawimawh hle. Hengte hi ngaihven rawh.

1. I chhungte hriselna chanchin dik takin hre rawh

Hei hi a pawimawh ber a ni. hATTR Amyloidosis hi pianphung atanga lo chhuak a ni. Damdawi lamah chuan ‘autosomal dominant’ kan ti thin. Chumi awmzia chu i nu leh pa zinga pakhatin he natna nena inzawm gene mutation a neih chuan nang pawhin i rochun theihna chance 50% i nei tihna a ni.

Chuvangin, i nu emaw, i pa emaw, i unaute emaw, i fate pawhin he natna hi an vei a nih chuan, i doctor nen genetic testing chungchang sawipui la, symptom i nei lo a nih pawhin i finthlak hle ang.

2. Test report i neih zawng zawng chu keng vek rawh.

TTR gene zawngtu thisen test emaw, saliva test emaw ang chi genetic test i neih tawh chuan, chu report zawng zawng chu rawn keng vek rawh. TTR gene mutations 120 chuang a awm a . Gene mutation thenkhat hi hnam thenkhatah a tam zawk.

Doctor hian eng test nge a order theih ang?

He natna hi i vei nia i rinhlelh emaw, i hriat chhuah tawh emaw chuan i doctor chuan uluk takin a enfiah hmasa ang che (physical exam). Tin, natna finfiah nan leh a kal zel dan enfiah nan a hnuaia test te hi order theih a ni bawk:

• Biopsy : Hei hi natna hriat chian nan test pawimawh ber a ni. Hei hi a tlangpuiin i pum emaw hmun dang emaw atanga tissue te tak te tak tak lak a, microscope hmanga enfiah a, amyloid deposit a awm leh awm loh enfiah a ni.
• Thisen leh zun test: Heng test te hian thisen emaw zun emaw a protein bik, he natna hi a lantir thei tih a zawng thin.
• Scintigraphy: Hei hi scan bik a ni a, thinlunga amyloid awm leh awm loh enfiahna a ni.
• Lung hnathawh enfiah : Natna hi hriat chhuah a nih veleh echocardiogram emaw cardiac MRI emaw ang chi scan hmangin thinlungah chhiatna engzat nge a awm tih hriat theih a ni.
• Nerve conduction test: Heng test te hian nerve chhiatna a awm leh awm loh hriat theih nan a pui thin.

Doctor chuan i symptoms te a zawt a!

Doctor chuan, "Engtin nge i awm?" I natna lan chhuahna eng pawh, a te ber pawh ni se, a hnenah hrilh a pawimawh hle. Hei hi a chhan chu he natna hian taksa peng tam tak a khawih theih vang a ni. A hnuaia symptoms te hi i neih chuan doctor hnenah hrilh rawh.

Hei hi eng enkawlna nge ni?

Kum tam tak kal ta khan he natna enkawlna awmchhun chu thin ( liver transplant) a ni. Vanneihthlak takin tunah hian tunlai damdawi tam tak, he natna zual zel dan tur control thei tur tam tak a awm tawh a ni. I doctor chuan thil pathum hmangin enkawlna a thlang ang:

1. I natna lan chhuah dan

2. Organ a nghawng

3. Natna Stage

hATTR natna hi stage lian paliah then a ni.

• Stage 0-naah chuan:TTR gene mutation hi a awm a, mahse symptom a awm lo.
• Stage I: I kal dan pangngaiin i kal thei a, mahse neuropathy symptoms na lo tak tak i nei thei a, chu chu i ke leh kea natna leh natna te hi a ni.
• Stage II: Kea kal tur chuan tanpuina a ngai. Neurological symptoms pawh hi kut, ke leh trunk-ah a na zawk bawk.
• Stage III: A natna lan chhuah dan a nasat em avangin wheelchair emaw khumah emaw chauh a awm thin.

Enkawl dan hrang hrang a awm a:

• TTR gene silencers: Heng damdawi te hian harsatna nei TTR protein siam chhuah tihtlem nan hna an thawk a ni. Hei hian amyloid deposition a ti tlem a ni. Entirnan: `Patisiran (Onpattro)`, `Inotersen (Tegsedi)`, `Vutrisiran (Amvuttra)` tih te hi a ni.
• TTR stabilizers: Hengte hian TTR protein chu a fold dik loh nan leh amyloid deposit a siam loh nan hna a thawk a ni. Entirnan: `Tafamidis (Vyndamax, Vyndaqel)` tih te hi a ni.
• Amyloid fibril degraders: Heng damdawi te hian amyloid deposit lo awm tawhte chu a ti chhe thei a ni. Chung zinga tam tak chu research phase-ah an la awm a ni.

Specialist dang hnenah min refer dawn em ni?

Awle. He natna hian taksa peng hrang hrang a nghawng avangin i doctor chuan specialist dang hnenah symptom hrang hrang enkawl turin a refer thei che a ni.

• Cardiologist: Heart rhythm leh heart attack symptoms te tan.
• Gastroenterologist: Diarrhea leh constipation ang chi natna tan.
• Urologist: Zun kawng lama harsatna nei tan.
• Mit doctor: Mit lama harsatna nei tan.
• Orthopaedic specialist: Carpal tunnel syndrome ang chi natna tan chuan.

I doctor pawhin natna prognosis chungchang a sawipui ang che. Hei hi natna hmuhchhuah atanga kum 3 atanga kum 15 chhungin khawi hmunah pawh a ni thei. Mahse, i gene mutation bik leh a nghawng taksa peng hrang hrangah a innghat tih hre reng ang che. Enkawlna thar zirchian a nih zel avangin hmalam hun atan beiseina a awm.