Gaucher Disease chungchanga hriat tur awmte

Thil tenau ber atang pawhin thisen chhuak mit i hmu em? A nih loh leh, eng ang pawhin mu mah la, i chau tih i hria em? Ruh na leh pum hring ang chi thil i buaipui em? Hengte hnung lamah hian kan hriat vak loh natna a awm thei a, mahse hriat a pawimawh hle. Vawiin hian chutiang natna hmuh tur awm lo mahse enkawl theih pakhat chungchang kan sawi dawn a ni. Chu chu Gaucher Disease a ni .

A awlsam zawngin Gaucher natna chu eng nge ni?

Gaucher natna hi genetic natna hmuh tur awm lo tak a ni. A dik tak chuan natna pawl pakhat , lysosomal storage disorders (LSD) an tih zingah a tel a ni. Okay, a hming hi a buaithlak deuhin a ri a ni lawm ni? Ngaihtuah buai suh, awlsam takin ka sawifiah ang.

Kan taksa cell chhungah hian ‘bawlhhlawh bawm’ te te, lysosomes an tih te hi a awm tih han ngaihtuah teh. An hna chu thil duh loh, thau ang chi, cell chhunga awmte tihchhiat leh tihfai hi a ni. Gaucher natnaah chuan taksa hian thau chi khat bik sphingolipids tih chu ti chhe thei enzyme a siam lo. Tichuan, chu thau duh loh chu kan ruhro, kan thin, leh kan rilru lam ang chi hmunah te chuan a lo awm khawm tan ta a ni.

Chutianga thau a lo pun chuan kan ruhte chu a chak lo va, thin leh ril ang chi taksa peng hrang hrangte chu a lo hring a, a lo lian ta a ni. Heng taksa peng hrang hrangte hian an hna an thawk tha thei tawh lo. Gaucher natna hi tihdam kim theih ni lo mah se, a natna lan chhuah dan control thei tur leh nunphung tha tak nei thei tur enkawlna a awm.

Gaucher natna hi chi thum a awm a, chungte chu:

Gaucher natna hi a inang vek lo. A chi thum kan hmuchhuak a. A chi thum hian ruh leh taksa peng hrang hrang a nghawng vek a ni. Mahse chi thenkhat chuan thluak a nghawng bawk. Heng chi hrang hrangte hi eng nge an nih i han thlir teh ang.

Engvangin nge Gaucher natna hi a lo awm?

Gaucher natna hi inherited metabolic disorder a ni a . Chumi awmzia chu kan nu leh pate hnen atanga genes hmanga kan hmuh thin thil a ni tihna a ni.

Kan taksa hian GBA gene an tih gene a nei a . He gene hnathawh hi taksa chu glucocerebrosidase (GCase) tih enzyme siam turin a zirtir a ni. GBA gene-a mutation a awm avangin Gaucher natna vei chuan he GCase enzyme hi a siam chhuak tlem hle.

Hetianga thau khawlkhawm hian taksa peng hrang hrang hnathawh a nghawng a, thisen cell a tichhia a, ruh a tichak lo bawk.

Gaucher natna lan chhuah dan chu engte nge ni?

Gaucher natna lan chhuah dan hi mi hrang hrangah a inang lo thei. Mi thenkhat chuan symptoms na lo tak tak an nei a, thenkhat erawh chuan hriselna lama harsatna lian tak an nei thei thung. Heng symptoms te hi category hrang hrangah then ila.

Internal organs leh thisen a nghawng dan

Taksaah chemical thau tak tak a awm khawm chuan i thisen leh taksa peng hrang hrangah nghawng hrang hrang a nei thei a ni.

• Thisen tlakchhamna:Ruhro (bone marrow)-a thau a awm khawm chuan oxygen phurtu thisen sen (red blood cells) te chu a chhe vek a ni. Anemia hi thisen sen (red blood cells) tlakchham vang a ni.
• Organ lian zawk: Spleen leh liver chu a chhunga thau a pun zel avangin a lo hring a, a lian bawk. Hei hian pum chu hmalam pan a, natna a thlen thei a ni. Spleen a lian chhoh zel chuan platelet a tichhia a, chu chuan thisen a tikhawlo thei a ni.
• Bruising leh bleeding: Platelet count a tlem avangin taksa chu a bruise awlsam hle (thisen a lang). Thisen hi a clot tha lo. Hnar atanga thisen chhuak leh hliam tenau tak atanga thisen chhuak reng reng a awm thei.
• Chauhna: Thisen tlakchhamna hian chau leh hahdamna a thlen fo thin.
• Lung harsatna: Thau hi lungah a pungkhawm thei a, thawk harsatna a thlen thei a ni.

Ruh chunga nghawng a neih dan

Ruhte hian thisen, oxygen leh nutrients a neih tlem chuan a chak lo va, a chhe thei hle.

• Natna: Ruh lama thisen kal tlem vangin natna nasa tak a awm thei. Joint pain leh arthritis hi a awm fo thin.
• Osteonecrosis: Avascular necrosis an ti bawk a, hei hi ruh chhunga oxygen tlakchham vanga ruh tissue thihna a ni.
• Ruh a chhe awlsam: Gaucher natna hian osteoporosis (ruh a calcium tlem, ruh a hring) an tih natna a thlen thei. Hei hian hliam tenau tuar pawhin ruh a tikehsawm thei a ni.

Thluak a nghawng dan (type 2 leh 3 chauh) .

Symptom dang bakah hian Gaucher natna chi 2 leh 3 hian thluak a nghawng bawk.

• Type 2: Natna lanchhuahna hi thla 6 hmasa berah a lang. Nu hnute pek harsatna leh thanlenna tlai ang chi thil i hmu mai thei.
• Type 3: Kum 10 an tlin hmain symptoms a lang a, hun kal zelah a na zual zel.
• Neurological symptoms awm tlangpui:
• Mit chu a sir lehlamah sawn harsa
• Kal leh balance lama harsatna
• Seizures leh taksa ruh (muscle twitching) te

Engtin nge Gaucher natna hi hriat chhuah a nih?

Nangmah emaw, i fa emaw hian heng symptoms te hi i neih chuan i doctor hmu la, i hrilh tur a ni. Doctor chuan a enfiah ang che a, i symptoms te a zawt ang che.

Gaucher natna a awm leh awm loh finfiah dan tlangpui pahnih a awm a, chungte chu:

1. Thisen test: Hei hian thisena kan sawi tawh GCase enzyme level a teh a.

2. DNA test: He test hi saliva sample emaw thisen emaw atanga tih a nih chuan Gaucher natna thlentu GBA gene mutation awm leh awm loh direct-in a hriat theih a ni.

Gaucher natna enkawlna tur a awm em?

Awle! Enkawlna tha tak tak a awm a, a bik takin Gaucher type 1 tan chuan a tha hle a, mahse type 2 leh 3 te thluak chhiatna hi damdawi a la awm lo.

Enkawl dan tlangpui pahnih a awm a.

He enkawlna hi dam chhung atan ei a ngai a ni. Damdawi taka enkawl a nih chuan type 1 vei chu nun pangngai, famkim takin a nung thei a ni.

Engtikah nge Doctor ka hmuh ang?

Nangmah emaw, i fa emaw hian he thuziaka tarlan ang chi symptoms hi i neih chuan i chhungkaw doctor pan nghal ang che.

• If you have a family history , awmzia chu i chhungte pakhatin Gaucher natna a neih chuan test neih a pawimawh bawk.
• Gaucher natna i vei tih hmuhchhuah a nih chuan i unaute hnenah hriattir la, anmahni pawhin he natna hi an nei emaw, carrier an ni thei bawk.
• Fa i beisei a, hlauhawma i inhriat chuan genetic counseling zawng rawh .

Gaucher natna ang chi natna hlauhawm tak i hriat hian hlauhna leh lungkhamna i neih hi thil pangngai a ni. Mahse, tunlaia enkawlna awmte hi a hlawhtling hle tih hre reng ang che. A pawimawh ber chu diagnosis dik tak neih a, specialist nena thawhhona tha tak neih a, enkawlna ruahmanna mumal tak zawm hi a ni. Chutiang chuan i natna lan chhuah dante chu i thunun thei a, hun rei tak chhunga chhiatna thleng tur chu i veng thei a, hrisel takin i awm thei bawk.