Hunter Syndrome: Moms and Dads, he natna hmuh tur awm lo tak hi i hre chiang ang u

I fate chu hmasawnna lamah tlem a hnufual deuh niin i inhria fo thin em? A nih loh leh a hmel lan dan leh a taksa pianzia chu a kum rualpui naupang dangte nen chuan a danglam deuh niin a lang em? A châng chuan, heng thilte hnung lamah hian kan hriat ngai loh dinhmun awm lo tak a awm thei bawk. Vawiin hian mi tam takin an hriat loh natna chungchang kan sawi a, mahse nu leh pate tan chuan kan fimkhur a pawimawh hle. Chu chu Hunter Syndrome a ni.

A awlsam zawngin Hunter Syndrome hi eng nge ni?

Hunter syndrome hi a awm lo hle a, genetic condition a ni. Hei hi i fa taksain a chhe thei lo va, sugar molecule complex thenkhat a digest thei lo a ni. Kan taksa chhunga workhorse te tak te ang maiin han ngaihtuah teh, chu chu enzyme kan ti a ni. An hna chu kan taksa chhunga thil lo lut, kan mamawh loh thilte tihchhiat leh tihfai hi a ni.

Hunter syndrome vei naupang chu sugar molecule chi khat tihchhiatna atana mamawh enzyme tlemte chauh nen a piang a. Chuti a nih chuan eng nge thleng ang? Chu sugar molecule tihchhiat theih lohte chu naupang taksa peng leh taksa peng hrang hrangah zawi zawiin a lo awm tan ta a ni. Bawlhhlawh paih loh ang bawkin a pung khawm thin. Hun a kal zel a, he khawlkhawm hian naupang taksa leh rilru lama hmasawnna a tichhe thei a ni.

Doctor-te chuan he natna hi chi hnihah an ṭhen a:

1. Natna chi hrang hrang: Hei hi a tam ber (60% vel) a ni. Heng naupangte symptoms te hian hma a sawn thuai a, an rilru lam theihna pawh a nghawng bawk. A tlangpuiin kum 6-8 a tlin meuh chuan naupang chuan thil tih tur bulpuiah harsatna a nei tan thin.

2. Mild type: Symptoms a lo lang zauh zauh. Naupang finna hi a tlangpuiin a nghawng lian lo hle.

He natna hi natna chi hrang hrang mucopolysaccharidoses an tih zinga mi a ni. Chuvangin Hunter syndrome hi mucopolysaccharidosis type II (MPS II) an ti bawk.

He natna hi engtiang chiahin nge a hluar? Tuin nge dawng thei ber?

Hei hi natna hmuh tur awm lo tak a ni . Tin, mipa naupang a nghawng tam ber bawk . Statistics atanga a lan dan chuan mipa naupang piang 100,000 atanga 170,000 zinga pakhat velin he natna hi an vei tih hmuhchhuah a ni.

Mahse, hmeichhe naupangte hi natna thlentu gene chhia chu phurtu an ni thei. A awlsam zawngin sawi ila, hmeichhia hian X chromosome pahnih a nei a, mipa pakhat erawh chuan pakhat chauh a nei thung. Chuvangin hmeichhe naupangin X chromosome chhia chu rochun mahse a X chromosome hrisel dang chuan a mamawh enzyme chu a siam thei a ni. Mahse mipa naupangin X chromosome chhia a rochun chuan duhthlan tur dang a nei lo va, symptoms a nei ta a ni.

He natna lan chhuah dan engte nge ni?

Naupang kum 2 leh 4 inkar ah hian symptoms hi a lang tan tlangpui a, heng symptoms te hi naupang hrang hrangah a inang lo thei. Naupang thenkhat chuan symptoms an nei tlem zawk a, thenkhat erawh chuan an nei tam zawk thung.

Engvangin nge he natna hi a lo awm tak tak?

Hei hi IDS gene a mutation vang a ni . IDS gene hian kan taksa mamawh enzyme iduronate 2-sulfatase (I2S) siam chhuahna a control a ni.

He I2S enzyme hian sugar molecule complex tak tak glycosaminoglycans (GAGs) an tih te chu a tichhia a ni. Hunter syndrome (MPS II) nei naupangte hian he I2S enzyme hi an siam chhuak lo tak tak a, a nih loh leh a tlem hle bawk.

Hei hian sugar molecule GAGs an tih chu lysosomes-ah a dah khawm a, chu chu cell-te recycling center a ni. Lysosomes hi cell recycling center ang mai a ni. Lysosomes chhunga thil awmkhawm avanga natna lo awmte hi lysosomal storage disorders an ti bawk . Hun a kal zel a, heng a khawlkhawmte hian taksa peng hrang hrang a tichhe thin.

He natna avang hian eng harsatna dang nge lo awm thei?

Natna nasat dan azirin naupangin harsatna chi hrang hrang a nei thei a. Doctor-te chuan heng harsatnate hi enkawl nan damdawi an hmang a, a châng chuan operation pawh an hmang ṭhin.

Engtin nge natna hi kan hriat theih ang?

I fa doctor chuan he natna hi a hriat theih nan test eng emaw zat a ti ang.

• Urine test: Hei hian a hmaa kan sawi tawh sugar molecules (GAGs) te chu zun chhunga a level sang lo tak tak a awm leh awm loh a enfiah thin.
• Thisen test: Hei hian thisen chhunga enzyme kaihhnawih hnathawh a hniam leh awm loh a hriat theih.
• Genetic testing: He test hi natna thlentu genetic mutation a awm leh awm loh finfiah nan tih a ni.

Engtin nge enkawl a nih?

Hunter syndrome hi damdawi a la awm lo . Amaherawhchu, natna kal zel dan tur thunun theihna tur, a hma thei ang bera harsatna awmte hriatchhuah theihna tur leh naupang nunphung tihchangtlunna tur enkawlna a awm.

Hei hi enkawlna tha ber chu Enzyme Replacement Therapy (ERT) a ni. Hei hian taksaa enzyme bo chu artificial-a siam chhuah a, naupang hnena pek a huam a ni. He damdawi hi idursulfase (Elaprase®) an ti a. He enkawlna hi kar khatah vawi khat thisen kal tlanga pek thin a ni.

Hei bakah hian khawvel hmun hrang hrangah gene therapy chungchanga zirchianna pawh kalpui mek a ni a, nakin lawkah enkawlna tha zawk a thlen theih beisei a ni.

Naupang hmalam hun tur eng nge i sawi theih ang?

Hei hi zawhna zawh harsa tak a ni tih ka hria. He natna khirh takah chuan naupang dam rei zawng hi a tawi thei hle. A tlangpuiin kum 10 leh 20 inkar a ni. Mahse, naupang natna lanchhuahna na lo tak takte chu puitlin thlengin an dam thei a ni.

I doctor zawh tur zawhna

I fateah he natna hi i vei tih hmuhchhuah a nih chuan i rilruah zawhna tam tak awm hi thil pangngai a ni. Heng thilte hi i doctor hnenah chiang takin zawt la.

• Hei hi natna khirh tak nge na lo tak a ni em?
• Ka fa hun rei lote leh hun rei tak chhunga a dinhmun chu eng nge ni ang?
• He natna hian engtin nge ka fa nun a nghawng ang?
• Enkawlna kawng hrang hrangte chu engte nge ni?

Chhungkaw pakhatin hetiang damdawi lam dinhmun an hriat hian an mangang leh lungngai hi thil pangngai tak a ni. Hetih lai hian nangmah chauh i ni lo tih hre reng ang che. Hemi chungchang hi i doctor, chhungte leh i thiante hnai tak takte nen inbia ang che. I fa chu a tha thei ang bera enkawl turin kan thawk ho vek a ngai a ni.