Fabry Disease hi eng nge ni? He natna hmuh tur awm lo tak hi thu awlsam takin i zir dawn nia

A châng chuan chhan awm lovin i kutphah leh kephah-ah tuar theih loh khawpa kang i nei ṭhin em? A nih loh leh i chau hle a, i thawmhnaw a hah lo va, i vunah hian hmun sen te te i nei em? Hengte hi thil pangngaiah i ngai mai thei. Mahse hengte hi Fabry Disease , kan hriat tam loh, genetic condition hmuh tur awm lo tak symptoms a ni thei bawk. Lungngai suh, he hming hi eng nge a nih, engvangin nge a lo awm tih, a natna lan chhuah dan te, a enkawl dan tur a awm em tih te, vawiinah hian kan sawi dawn a ni.

Fabry Disease hi eng nge ni tak tak?

A awlsam zawngin Fabry natna hi kan taksaa genetic defect avanga lo awm a ni. Thil thleng chu kan taksaa enzyme pawimawh tak siam chhuahna a tlahniam emaw, a awm lo vek emaw a ni. He enzyme hming hi alpha-galactosidase A , a tawi zawngin `(alpha-GAL)` tih a ni.

Kan taksa hian bawlhhlawh paihna company ang chi system a nei ang tih han ngaihtuah teh. He enzyme `alpha-GAL` an tih hi chu company-a hnathawk fing ber a ni. A hna chu kan cell chhunga thau chi khat (a dik zawka sawi chuan thau ang chi) sphingolipids tihfai leh tihchhiat hi a ni.

Tunah chuan Fabry natna vei taksaah hian he hnathawk fing tak, `alpha-GAL` enzyme hi a tam tawk lo. Chuti a nih chuan eng nge thleng? Chu bawlhhlawh ang chi thau `sphingolipids` an tih chu taksaah a lo awm tan ta a ni. Bawlhhlawh paih a nih loh chuan in chhunga bawlhhlawh bawm a lo awm ang mai hian. Hetiang thau chi hi kan thisen kalna kawng, thinlung, kal, thluak, nervous system leh vunah a awm khawm ber a ni. Hun kal zelah hetiang hian thau a pungkhawm chuan chu taksa pengte chu a chhe tan thin. Hei hi natna pawl pakhat lysosomal storage disorders an tih zinga mi a ni .

He natna chi hrang hrang hi engte nge ni?

Fabry natna hi chi hnih ah then theih a ni a, chu chu a lan chhuah tan kum a zirin a ni.

He natna hi a hluar em? Tuin nge dawng?

Fabry natna hi a tlem hle. Statistics atanga a lan dan chuan classic form hi mipa 40,000 zinga pakhat vel ah a awm a ni. Mahse, late-onset form hi a tam zawk deuh. Mipa 1,500 leh 4,000 zinga pakhat a nghawng thei a ni.

Hmeichhia zingah he natna hi engtiang chiahin nge a hluar tih sawi chian a har hle a, hmeichhe thenkhat chuan natna lanchhuahna an nei lo tak tak a, a nih loh leh a na lo chauh an awm a, chuvangin natna vei hriat lohvin an nung thin.

Hei hi thlah kal zel atanga lo chhuak a ni.

Hei hi genetic disease a ni a, nu leh pa atanga fate hnena kai a ni tihna a ni. Hei hi a thlentu gene chhia chu kan X chromosome ah a awm a ni . Hei hi chhungkuaah engtin nge a kal tih i lo en ang u.

• Pain natna a neih chuan: Fabry natna vei pa chuan a X chromosome chu a fanute zawng zawng hnenah a pe chhuak vek a ni . Chumi awmzia chu a fanute zawng zawng hian natna atana gene mutation chu an rochun vek dawn tihna a ni. Mahse fapate erawh chu hlauhawmah an awm lo . Hei hi a chhan chu fapate hian an pa hnen atangin Y chromosome an dawng a, X chromosome an dawng lo.
• Nuin natna a neih chuan: Fabry natna vei nu chuan a fate pakhat zel (fanu emaw fapa emaw) hnenah X chromosome chhia chu 50% in a pe chhuak thei a ni Coin flipping ang mai a ni. Naupang pakhatin natna hi a rochun thei a, pakhat zawkin a rochun lo thei bawk.

Fabry natna lan chhuah dan chu engte nge ni?

Mi hrang hrangah symptoms a inang lo thei hle. Mi thenkhat chuan symptoms na lo tak tak an nei a, thenkhat erawh chuan symptoms na tak tak an nei thei thung. Hmeichhia aiin mipa hian natna lanchhuahna na zawk an nei tlangpui.

Hengte hi a lan chhuah dan tlangpui thenkhat chu an ni:

• Kut leh ke a na: Kut leh ke te chu a bengchheng thei a, a hring thei a, a kang thei bawk. He natna hi exercise hun chhungin a na zual thei.
• Temperature laka sensitivity: Khua lum lutuk emaw, khaw lum lutuk emaw tuar thei lo.
• Thawmhnaw a tlahniam: Mi thenkhat chuan an thawk a tlem hle (hypohidrosis) . Midang erawh chuan an thawkrim lo (anhidrosis) .
• Vun inthlak danglamna: A rilru, hnungzang leh mipat hmeichhiatna hmunah te hian hmun te te, sang tak, sen dum emaw, sen hring emaw a lang thin. Chungte chu angiokeratoma an ti a .
• Mit inthlak danglamna: Mit cornea- ah hian pattern bik a lo awm a. Hei hi cornea verticillata an ti a . Mahse, hei hian engti kawng mahin mit hmuhna a nghawng lo. Hei hi doctor chauhvin hmanraw bik (slit lamp) hmangin a hmu thei a ni.
• Digestive system lama harsatna: Pum na, pum na, luak chhuak, chaw ei kham ang chi harsatna a awm fo thin.
• A lan chhuah dan tlangpui: Chauhna, luak chhuak, khawsik, leh taksa na (flu ang chi) a awm thei.
• Hriatna lama harsatna: Hriatna hloh emaw, beng ri (tinnitus) emaw a awm thei.
• Kidney-a nghawng a neih dan: Zun-a protein level sang (proteinuria) .
• Swelling: Ke, ke ruh leh ke a hring (edema) .

He natna avanga harsatna hlauhawm awm thei te chu engte nge ni?

Kum tam tak chhung chu heng thau `sphingolipids` an tih hi taksaa a khawlkhawm hian thisen kalna kawng leh taksa peng hrang hrangah chhiatna nasa tak a thlen thei a ni. Hei hian nunna atana hlauhawm thei khawpa harsatna a thlen thei a ni.

Harsatna lian ber berte chu:

• Lung natna: Thinlung thawk mumal lo (arrhythmia) , thinlung natna, thinlung lian zawk, leh thinlung chak lohna te .
• Kidney failure: Kal a chhiat chuan a hnathawh a tichhe vek thei.
• Nerve lama harsatna: Peripheral nerve (peripheral neuropathy) a chhiat chuan ke ruh na leh ke ruh a ti na zual thei.
• Strokes: Thluak lama thisen kalna kawng a block chuan paralysis emaw transient ischemic attack (TIA) emaw a thlen thei a ni.

Engtin nge natna hi kan hriat theih ang? (Diagnosis) tih a ni.

I doctor chuan Fabry natna a rinhlelh chuan a natna hriat chian nan test eng emaw zat a ti ang.

• Enzyme hmanga endikna:Hei hi thisen test a ni. Hei hian i thisena `alpha-GAL` enzyme level a teh a ni. He level hi 1% aia tlem a nih chuan natna hi rinhlelh a ni. Mahse, he test hi mipa tan chauh rintlak a ni. Hei hi hmeichhia tan a tha lo hle a, an enzyme level hi hun pangngaiah a inthlak danglam thei a ni.
• Genetic testing: Hei hi natna finfiah dan tha ber a ni. DNA sequencing technology hmang hian GLA gene -ah hian mutation, a nih loh leh defect a awm leh awm loh dik takin a hriat theih a, chu chuan `alpha-GAL` enzyme siam chhuah a hrilhfiah a ni.
• Nau piang thar endikna: Ram thenkhatah chuan nausen piang tharte chu heng natnate hi screening an nei thin.

Fabry natna enkawlna tur engte nge ni?

Fabry natna hi damdawi a la awm lo. Mahse, natna lan chhuah dan control thei leh taksaa thau tha lo awm zat tikhawtlai thei enkawlna tha tak tak a awm. Heng enkawlnate hian a tum ber chu lung natna, kal natna leh harsatna lian tham dangte ven hi a ni.

Heng enkawlna bulpui te bakah hian natna leh pum lam harsatna te tan damdawi hran hran pek thin a ni. Scientist te pawhin genetic engineering technology hmangin enkawlna thar an siam chhuak mek bawk.

He natna nen hian nun hi eng ang nge ni ang? (Hmuh dan tur) .

Fabry natna hi natna zual zel a ni. Chumi awmzia chu kum upat deuh deuh hian symptoms leh complications awm theihna a sang chho tihna a ni. He natna hian dam rei zawng a ti tawi thei a ni. A vaiin classic form nei mipa chu kum 50 hnuai lam thlengin an dam a, hmeichhia chu kum 70 vel an ni.

Mahse a pawimawh ber chu inenkawlna mumal tak i hmuh chuan, a bik takin thinlung leh kal hriselna i enkawl chuan i nunah kum tam tak i belhchhah thei a ni.

He natna hi chhungte hnena a darh loh nan ven theih a ni em?

Hei hi genetic disease a nih avangin i chhungkuaa mi tu emaw hian he natna nena inzawm gene mutation a neih chuan i fate hian an rochun theihna a awm. Chuvangin, nangmah emaw, i chhungte zinga tu emaw hian he natna hi i vei a nih chuan, genetic counselor nena inhmuh leh inbiakna neih a pawimawh hle .

Chutiang specialist chuan i fate’n gene an rochun theihna tur a hrilhfiah thei a ni. Fa neih i tum a nih chuan i duhthlan tur awmte pawh an sawi thei bawk. Entirnan, Preimplantation Genetic Diagnosis (PGD) tih tih dan pakhat a awm a. Hetiang tih dan hian In Vitro Fertilization (IVF) neih chhunga nu hnena an transfer hmain embryo te chu test a ni a, chu chuan embryo hrisel tak tak, gene chhia nei lo te chu a thlang chhuak thin.

Doctor i hmuh nghal tur hunah

Fabry natna i vei tih hmuhchhuah a nih a, a hnuaia symptoms te hi i neih chuan , i doctor hmu nghal la, a nih loh leh damdawi in hnai ber Emergency Department (ETU) ah kal rawh.

• Chhung na, thinlung thawk mumal lo, thawk harsa (hengte hi heart attack chhinchhiahna a ni thei).
• Taksaah a hring lutuk emaw, tui a awm reng emaw.
• Luak chhuak nasa tak, mitdelna, tawng danglamna (hengte hi stroke chhinchhiahna a ni thei).
• Hriatna hloh nghal mai.
• Pum natna nasa tak emaw, luak chhuak emaw.

Doctor zawh tur zawhna pawimawh

He natna hi i vei tih hriat chhuah a nih chuan zawhna tam tak neih hi thil pangngai a ni. Doctor i hmuh hunah heng zawhnate hi zawh theihnghilh suh.

• Engtin nge Fabry natna ka neih?
• Fabry natna chi hrang hrang ka neih?
• Eng enkawlna nge ka tan a tha ber?
• Chutiang enkawlnate chuan eng hlauhawmna leh nghawng ṭha lo nge a neih?
• Ka chhungte hi he natna vei theihna hlauhawmah an awm em? Genetic testing kan nei tur em ni?
• Eng damdawi lam enkawlna leh test nge ka dawn chhunzawm zel ang?
• Eng harsatna chhinchhiahna nge ka ngaihtuah bik tur?

Fabry natna vei nia hriat a nih chuan lungngaihna leh lungkhamna i neih hi thil pangngai a ni. Nakin hun leh i fate i ngaihtuah a ni mai thei. Mahse, hre reng ang che, tunah hian he natna hi enkawl dan tur tha tak tak a awm ta. Tin, hmalam hun atana beiseina min pe thei tur zirchianna tam tak kalpui mek a ni bawk. I enkawlna ruahmanna ngun taka zawm a, i doctor nena thawhhona tha tak hmang hian i natna lan chhuah dan te i enkawl thei a, hun rei tak chhunga chhiatna thleng tur i veng thei a, nun hlawhtling tak i hmang thei bawk.