Gaucher Disease hi eng nge ni? A awlsam zawngin i hrethiam ang u

I taksa pum puiah pawh hliam i nei em? A nih loh leh i chau reng a, ruh na i nei em? Chûngte chu thil pangngai ang maia lang mah se, a châng chuan a hnung lamah hian thil awm lo tak, Gaucher Disease ang chi, kan hriat vek a ngai a awm thei a ni. Lungngai suh, vawiin hian he thu hi a awlsam zawngin, i hriatthiam theih dan tur angin kan sawi dawn a ni.

Gaucher Disease hi eng nge ni tak tak?

A awlsam zawngin sawi ila, hei hi genetic disease a ni a, rochun a ni. A dik tak chuan hei hi lysosomal storage disorders (LSD) category-a tel natna a ni. Kan taksa chhunga factory ang maiin han ngaihtuah teh. He factory hian thil duh loh, chu chu bawlhhlawh paih chhuah te chu uluk taka paih chhuah a ngai a ni. Gaucher natnaah hian kan taksaa thau chi khat bik, sphingolipids an tih chu a chhe vek lo va, a paih chhuak lo va, chu ai chuan ruhro, thin leh ruhro ang chi taksa peng hrang hrangah a pung khawm zawk thin.

Hetianga thau a punkhawm hian eng nge thleng?

• Organ swelling: Liver leh spleen ang chi organ te hi a lian chho zel a.
• Ruh a chak lo: Ruh thauin a khat chuan a chak lo a, awlsam takin a chhe thei a ni.

Gaucher natna chi hrang hrangte chu engte nge ni?

Gaucher natna hi chi thum a awm a. Heng chi zawng zawng hian taksa peng leh ruh a nghawng vek a ni. Mahse, chi thenkhat chuan thluak a nghawng bawk. Heng chi hrang hrangte hi chiang takin i hrethiam ang u.

Engvangin nge he natna hi a lo awm? A chhan chu eng nge ni?

Hei hi kan gene (`GBA` gene) a mutation vang a ni. He gene hian enzyme pakhat `glucocerebrosidase` (`GCase`) siam turin min hrilh a.

Enzyme hi kan taksaa chemical process hrang hranga puitu protein a ni. He `GCase` enzyme hnathawh ber pakhat chu a hmaa kan sawi tawh thau (`sphingolipids`) te tihchhiat a, taksa atanga paih chhuah hi a ni.

Gaucher natna vei chuan an taksaah he enzyme hi a siam chhuak tawk lo. Tichuan, chu thau chu a chhe vek a, tihbo ai chuan, chu thau chu taksa peng leh ruhro ang chi hmunah "Gaucher cells" angin a pung khawm ta a ni. He khawlkhawm hi harsatna zawng zawng bulpui ber a ni.

He natna hi tuin nge vei tam ber?

He natna hi tu pawhin an vei thei a ni. Mahse, type 1 Gaucher natna hi Ashkenazi Judate zingah a tam ber a ni. A chi dang pahnih (2 leh 3) te hi hnam leh chi hrang hrang tan bik a ni lo.

Gaucher natna lan chhuah dan chu engte nge ni?

Mi tin hian natna lan chhuah dan a inang lo. Mi thenkhat chuan symptoms an nei lo tluk a, thenkhat erawh chuan symptom na tak tak, nunna atana hlauhawm thei tak tak an nei thei thung.

Organ leh thisen tichhe thei symptoms

• Anemia: Ruhro (bone marrow) a thau a khat chuan thisen sen (red blood cells) siamchhuahna a tlahniam thin. Taksa mamawh oxygen phur thei tur thisen sen (red blood cells) a awm loh chuan i chau hle thin. Hei hi thisen tlakchhamna (anemia) an ti.
• Liver leh spleen lian: Heng taksa peng pahnih hi thau a tam avangin a lian chho zel a. Hei hian pum chu a rawn chhuak a, a hring chhuak thin. Spleen a lo lian chuan platelet a tichhia a, chu chuan thisen a tikhawlo thei a ni.
• Bruising leh bleeding: Platelet count tlem vangin cut te tak te pawhin thisen a chhuah loh nan hun rei tak a ngai a, chu chuan hnar atanga hliam leh thisen chhuak a thlen thin. Hnar thisen pawh a tam hle.
• Chauhna: Thisen tlakchhamna hian hahdamna leh mutthilhna a thlen fo thin.
• Lung harsatna: Lung chhunga thau awm hian thawk harsatna a thlen thei.

Ruh tichhe thei symptoms

Ruhte hian an mamawh thisen, oxygen leh nutrients an dawn loh chuan a chak lo tan thin.

• Natna: Ruh leh ruhroah na tak a awm. Arthritis ang chi dinhmun a lo awm thei bawk.
• Osteonecrosis: Hei hi a hming dang chu `avascular necrosis` tih a ni. A awlsam zawngin, ruhte hian oxygen an hmuh tlem a, ruh tissue a thih hian a ni.
• Ruh a chhe awlsam: He natna hian ruh natna (osteoporosis) an tih a thlen a. Chumi awmzia chu ruhte hian calcium a hloh a, chu chuan a ti chhe thei tihna a ni. Tlu tê tê pawh hian ruh a tikehsawm thei a ni.

Thluak nghawng thei symptoms (type 2 leh 3-ah hman theih) .

• Nau hnute pek harsatna leh thanlenna tlai (nausen type 2 neiah).
• Zirna leh hriatthiam harsatna.
• Mit lama harsatna, i mit chu a sir lehlamah i sawn harsatna ang chi te.
• Balance leh coordination lama harsatna awm.
• Seizures leh taksa a jerking nghal.

Engtin nge he natna hi i vei tih i hriat theih ang?

Heng symptoms te hi i neih chuan i doctor chuan a enfiah hmasa ang che a, i symptoms te chu a zawt hmasa ang che. Tichuan, a natna hriat chian nan test lian pahnih a awm a:

1. Thisen test: Hei hian thisen a `GCase` enzyme awm zat a teh thin.

2. DNA test: Sava emaw thisen sample emaw chu natna thlentu genetic mutation a awm leh awm loh endik a ni.

Gaucher natna hi eng enkawlna nge ni?

Hetah pawh hian type 1 Gaucher natna enkawlna tha tak tak a awm a. Mahse, type 2 leh 3 avanga thluak chhiatna hi damdawi a la awm lo.

Type 1 enkawlna lian ber pahnih chu:

Heng enkawlnate hi taksa peng leh ruh tihchhiat loh nan dam chhung zawnga ei a ngai a ni.

Engtikah nge Doctor ka hmuh ang?

• Nang emaw i fa emaw hian kan sawiho tawh symptoms (a bik takin sawifiah theih loha hliam, hah lutuk, ruh na, leh pum na) i neih chuan doctor pan ngei ang che.
• I chhungkuaa mi pakhatin Gaucher natna a vei tih i hriat chuan nangmah ngeiin test neih a finthlak ang.
• Natna i vei tih hmuhchhuah a nih chuan i unaute leh chhungte hnai berte hriattir a pawimawh hle a, anni pawhin natna hi an nei emaw, carrier emaw an ni thei bawk.

Gaucher natna ang natna hlauhawm tak i nei tih i hriat chuan hlauhna leh lungkhamna i neih hi thil pangngai a ni. Mahse hre reng ang che, tunah hian enkawlna tha tak tak a awm tawh a, a bik takin type 1 tan chuan i doctor nen thawhhona tha tak leh in enkawl dan tur uluk taka zawm chuan i natna lan chhuah dan te i thunun thei a, nun hlim takin i hmang thei a ni.