Sanfilippo Syndrome hi eng nge ni? Nu leh pa kan nih angin i fimkhur ang u.

Tun hnaiah i fate hmasawnna tihkhawtlai emaw, thil danglam bik emaw i hmu em? A châng chuan hengte hi naupangte an lo puitlin huna thil thleng pangngai angin kan ngai a, mahse, Sanfilippo Syndrome an tih, natna hmuh tur awm lo tak chhinchhiahna hmasa ber a ni thei. A hming avang hian hlauthawng suh. Condition hmuh tur awm lo tak a ni. Mahse nu leh pate tan chuan fimkhur a pawimawh. Chuvangin, chiang tak leh awlsam takin sawi ila.

Sanfilippo Syndrome hi eng nge ni tak tak?

A awlsam zawngin sawi ila, hei hi genetic disease hmuh tur awm lo tak a ni a, naupang metabolism leh thluak thanlenna tichhe thei a ni. Mucopolysaccharidosis type III an ti bawk.

Kan taksa hi factory lian tak angin han ngaihtuah teh. He factory hian hna a thawh that theih nan thil thenkhat chu tihchhiat, tihchhiat, tihfai leh paih chhuah a ngai a ni. He hna thawk tura puitu hnathawk tlemte te hi enzyme an ti a . Naupang Sanfilippo syndrome vei chuan heng enzyme pawimawh tak tak zinga pakhat hi a tlachham a ni.

He enzyme tel lo chuan naturally occurring sugar molecule heparan sulfate an tih chu a chhe tha tawk lo va, taksa atangin a paih chhuak thei lo. Chu ai chuan taksa cell chhungah a pung khawm tan zawk a ni. Factory chhunga bawlhhlawh awm, tihfai loh ang mai a ni. He thil khawlkhawm hi cell chhunga compartment hrang hrang lysosomes an tih ah dah a ni. Chuvangin he natna hi lysosomal storage disease an ti bawk .

He bawlhhlawh hi a lo punkhawm chuan cell te hi an thawk tha thei lo. Hun a kal zel a, hei hian taksa peng hrang hrang a tichhe thei a, thanlenna a tikhawlo thei a, nungchang lama harsatna a thlen thei a, nervous system pawh nasa takin a tichhe thei bawk.

He natna hi a tlem hle. Nau piang 70,000 zinga pakhat vel a nghawng a ni. He natna vei naupangte dam rei zawng chu kum 10 leh kum 20 inkar a ni. Amaherawhchu, chhungkuaa tu emaw hian he natna hi a lo vei tawh a nih chuan naupangin a vei theihna a sang zawk.

He natna chi hrang hrang a awm em?

Ni e, he natna hi chi li a awm a. Kan sawi tawh ang khan heparan sulfate tihchhiat puitu enzyme chi li a awm a. Chuvangin, natna chi chu heng enzyme chi pali zingah hian eng enzyme nge tlakchham tih a\angin a innghat a ni . A chi thenkhat chu a dang aiin a na lo zawk thei.

He natna lan chhuah dan engte nge ni?

A lan chhuah hmasak ber chu pian leh kum 2 inkarah a lang tan tlangpui. Mahse, a châng chuan nu leh pate chuan an hre lo thei a, doctor-te pawhin natna dang (e.g. autism)-ah an ngai sual thei bawk.

Mitmeng hmel danglam tak

Nu leh pate chuan hetiang natna nei naupangte hmêl danglamna an hmu thei a, a bîk takin unaute bula an awm laiin. Mitmeng thim zawk, a tlangpui aia lian zawk.He natna bik pakhat chu a chang chuan heng mitmeng pahnih hi an inzawm khawm a, chu chuan hmai sir zawng zawngah mitmeng pakhat ang maiin a lang thin. He feature hi naupang a lo puitlin chuan a langsar zual zel a ni.

Engtin nge natna hi kan hriat theih ang?

Natna hmuh tur awm lo tak a nih avangin leh a natna lan chhuah hmasak dan pawh natna dang nen a inang em em a, doctor-te chuan a tir lamah an test ngai lo fo thin. Mahse naupangin a mamawh puihna leh enkawlna a hmuh theih nan a hma thei ang bera natna hi hriatchhuah a pawimawh hle.

I fa hian a thanlenna a tikhawtlai a, nau piangsual a nei a, kan sawiho tawh natna lan chhuahna hmasa thenkhat a neih chuan i doctor chuan genetic emaw metabolic testing emaw atan a refer thei che a ni.

• Urine test: Test hmasa ber tur chu zun test a ni. Naupang zun a heparan sulfate level a san chuan Sanfilippo syndrome a awm thei tih chhinchhiahna a ni.
• Thisen test: Natna finfiah nan thisen test a ni. Hei hian a kaihhnawih enzyme activity a hniam em tih a enfiah thin.

Enkawlnate chu engte nge ni?

Vanduaithlak takin Sanfilippo syndrome hi damdawi a awm lo va , chuvangin doctor-te thil tum ber chu supportive care pek hi a ni . Chu chu a natna lan chhuah dan control a, naupang chu a theih ang anga rei nun quality tha ber pek tihna a ni.

Hei atan hian enkawlna leh enkawlna hrang hrang hman a ni a:

• Speech-language therapy: Thusawi tlai hi a lan chhuah dan tlangpui a ni. Speech therapist chuan naupang chu thu leh cue (e.g., picture card) hmanga inbiakpawhna atan a pui thin.
• Feeding therapy: Natna a zual zel chuan ei leh ei a harsa thin. Feeding therapist chuan naupang chu him taka ei turin a puih theih dan tur a siam ang.
• Physical therapy: He therapy hian naupang chu a rei thei ang bera kal turin a pui a, a chak reng a, balance a vawng reng thei bawk. A tul chuan wheelchair ang chi hmanrua an hmuh theih nan a pui thei bawk.
• Occupational therapy: He therapy hian fine motor skills, incheina leh inkhelhna thil chelh te chu a rei thei ang bera vawng reng turin a pui a ni.

Hei bakah hian khawvelah hian experimental treatment hrang hrang a awm a, chungte chu Enzyme Replacement Therapy (ERT) leh Gene Therapy te hi a ni.

Nang, naupang enkawltu pawh hian nangmah i ngaihtuah tur a ni.

Chutiang natna hlauhawm tak nei naupang enkawl chu mawhphurhna lian tak a ni. Tin, inpekna lian tak a ni bawk. He zinkawngah hian i rilru a buai, i lungngai a, i thinrim a, i thinrim hi thil pangngai tak a ni .

Chuvangin, i fate ang bawkin nangmah leh nangmah ngaihtuah hi theihnghilh suh.

• I rintlak tak hnen atangin tanpuina dil rawh.
• Tlemte chawlh hahdam turin hun siam rawh.
• I chhungte emaw, i doctor emaw hnenah i rilru put hmang sawi rawh. A tul chuan mental health counselor tanpuina la rawh.

I fa chu a ṭha ber pe tûr chuan i dam hmasak a ngai tih hre reng ang che .