Fabry Disease: He natna chi hrang hrang (hereditary disease) hmuh tur awm lo tak hi i zir dawn teh ang

I ke ruhte chu a kang mai mai emaw, a tingling mai mai emaw niin i hria em? Hna tenawm tak tak i thawh hnuah pawh a chang chuan i chau hle thin em? Chûngte chu thil pangngai ang maia lang mah se, a châng chuan he thil hnuaia awm, Fabry Disease ang chi genetic condition hmuh tur awm lo tak a awm thei bawk. He hming hi i hre lo pawh a ni thei. Mahse a chanchin hriat a pawimawh hle. Vawiin hian awlsam takin sawi ila.

A awlsam zawngin Fabry Disease hi eng nge ni?

Fabry natna hi kan chhungkuaah a kal zel a, genetic condition a ni. A tlem hle. A awlsam zawngin sawi ila, he natna vei hian alpha-galactosidase A (a tawi zawngin alpha-GAL) tih enzyme a siam tha lo.

Tunah chuan he enzyme hi eng nge a nih i ngaihtuah mai thei. Enzyme hi kan taksaa chemical process hrang hranga puitu protein chi khat a ni. He alpha-GAL enzyme hnathawh ber chu kan taksaa thau chi khat, sphingolipids an tih chu a tichhia a, chu chu ei leh in taksa atanga paih chhuah a ni.

Ngaihtuah teh, bawlhhlawh khawntu chu ni tam tak chhung kan inah a lo kal lo a nih chuan eng nge thleng ang? In chhung zawng zawngah bawlhhlawh a pung khawm vek a ni lawm ni? Chutiang chu a ni. Alpha-GAL enzyme a awm loh chuan kan thisen kalna kawng leh tissue-ah hian thau chi khat sphingolipids an tih chu a lo awm khawm tan thin. Hetiang khawlkhawm hian kan thinlung, kal, thluak, nervous system leh vun te a tichhe thei a ni. 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.

Engtin nge Fabry natna hi a lo awm? Hrilhfiahna a ni em?

Ni e, hei hi thlahtu natna a ni vek. Kan genes hi chromosome an tih thilah a awm a. He natna thlentu gene chhia hi X chromosome ah a awm a ni .

A awlsam zawngin i hrethiam ang u:

• Pain Fabry natna a neih chuan:
• A fanute zawng zawng hian he X chromosome chhia hi an rochun vek a ni. Chumi awmzia chu a fanute zawng zawng hian he natna vei theihna an nei vek tihna a ni.
• Mahse fapate hian an pa hnen atangin Y chromosome an rochun avangin fapaten he natna hi an pa hnen atangin an rochun lo.
• Nuin Fabry natna a neih chuan:
• Nu hian X chromosome pahnih a neih avangin a fate (fanu emaw fapa emaw) pakhat zel hian X chromosome chhia chu rochun theihna chance 50% an nei a ni. Chumi awmzia chu naupang thenkhatin he natna hi an nei thei a, thenkhatin an nei lo thei bawk.

Fabry natna lan chhuah dan chu engte nge ni?

Mi tin hian natna lan chhuah dan a inang lo thei. Hmeichhia aiin mipa hian natna lanchhuahna na zawk an nei tlangpui. Hmeichhe thenkhat chuan symptoms na lo tak tak emaw, symptoms nei lo tak tak emaw an nei thei.

Hengte hi a lan chhuah dan tlangpui chu:

• Kut leh kea natna, tingling, emaw, natna nasa tak emaw .
• Exercise emaw taksa tihchak laia natna nasa lutuk.
• Khaw lum emaw, lum emaw tuar thei lo.
• Thawmhnaw a tlahniam (hypohidrosis) emaw, thawk hah lo (anhidrosis) emaw.
• Pum lam harsatna, pum na, riltam, leh chaw ei kham te.
• Luak chhuak thei.
• Flu natna lan chhuah dan inang, khawsik, taksa na, leh hahna te.
• Hriatna hloh emaw beng chhunga ri (tinnitus) emaw.
• A rilru, hnungzang leh mipat hmeichhiatna hmuna vunah rawn lang, red-purple bumps te tak te (angiokeratomas) a awm.
• Ke, ke ruh leh ke ruh (edema) a lo hring (edema).
• Zun chhunga protein level sang (proteinuria).
• Mit chhungah hian pattern bik (cornea verticillata) a lo awm thin. Hei hian mit hmuhna a nghawng lo. Mit enfiahna bik (slit lamp exam) hmang chauhvin hmuh theih a ni.

He natna avanga harsatna hlauhawm tak tak thleng thei

A chunga kan sawi tak thau chi (sphingolipids) hi kum tam tak chhung taksaah a awm khawm thei a, kan taksa peng lian ber berte pawh a tichhe thei a ni. Hei hian nunna atana hlauhawm thei khawpa harsatna a thlen thei a ni.

• Lung natna: thinlung thawk mumal lo (arrhythmia), thinlung natna, thinlung lian zawk, leh thinlung tha lo.
• Kidney failure: Hun a kal zel a, dialysis emaw, kal thlak emaw pawh a ngai thei.
• Stroke: Stroke emaw transient ischemic attack (TIA) emaw hi thluaka thisen kalna kawng a block vangin a awm thei.
• Nerve tihchhiat (peripheral neuropathy) tih a ni.

Engtin nge natna hi kan hriat theih ang?

Hetiang symptoms i neih chuan i doctor chuan he natna hi a ringhlel thei a, test eng emaw zat nei turin a refer thei che a ni.

Enkawlnate chu engte nge ni?

Fabry natna hi damdawi a la awm lo. Mahse, beiseina bansan suh. Tunah chuan enkawlna tha tak tak a awm ta a, chu chuan natna lan chhuah dan a thunun thei a, taksaa thau a punkhawmna a tikhawlo thei a, harsatna lian tham a veng thei bawk.

Enkawl dan tlangpui pahnih a awm a, chungte chu:

1. Enzyme thlak danglamna damdawi (ERT) .

Hei hian i taksain a siam loh alpha-GAL enzyme lab-a siam version pek che a ngai a ni. He damdawi hi IV infusion angin, saline ang bawkin, kar hnih danah pek thin a ni.He enkawlna hian taksaa thau awmkhawm chu a titawp a ni.

2. Oral Chaperone hmanga enkawlna

Hei hi pill i ei thin a ni. He damdawi hian i taksaa alpha-GAL enzyme dik lo chu a siam that a, a thawk leh thei a ni. Mahse, he enkawlna hian mi zawng zawng tan hna a thawk lo. I genetic mutation awm danah a innghat. Hei hi i tan a tha em tih i doctor chuan a rel ang.

Heng enkawlna lian ber berte bakah hian natna, pum na leh natna lan chhuah dan dangte tan damdawi hranpa pek theih a ni.

Engtikah nge doctor i hmuh ang?

Fabry natna i vei tih hmuhchhuah a nih chuan a hnuaia symptoms te hi i neih chuan doctor i pan nghal tur a ni:

• Lung natna lan chhuah dan, rilru na, thawk hah, leh thinlung thawk mumal lo (hei hi a lo awm a nih chuan damdawi in Emergency Department (ETU) pan vat tur a ni).
• A hring lutuk.
• Paralysis chhinchhiahna hrang hrang, luak chhuak nasa lutuk, mit hmuh dan inthlak danglam, leh tawng harsa (he thil thlengah pawh hian ETU-ah kal nghal rawh).
• Hriatna hloh nghal mai.
• Pum natna nasa tak emaw, pum na emaw.

Fabry natna i vei tih hmuhchhuah a nih chuan hlauhna leh lungkhamna i neih hi thil pangngai a ni. I hmalam hun leh i fate chungchangah ngaihtuahna i nei mai thei. Mahse, tunah chuan enkawlna \ha tak tak a awm tawh a, zirchianna thar pawh a awm dawn a ni. I enkawlna ruahmanna ngun taka zawm a, i doctor nena thawhhona tha tak hmang hian i natna lanchhuahna te chu i enkawl thei a, hun rei tak chhunga chhiatna thleng tur pawh i veng thei bawk.