I fate pum chu a hring deuh niin a lang em? A nih loh leh i fa chu an kum nena inmil lo takin a thang lo niin i hria em? A châng chuan heng thilte hi thil pangngai a ni thei bawk. Mahse a tlem hle a, kan hriat ngai loh, genetic disease hmuh tur awm lo tak avanga lo awm thei an ni. Vawiin hian Niemann-Pick Disease kan sawi dawn a, chu chu chutiang natna hmuh tur awm lo zinga mi a ni. He hming i hriat hian hlau suh. I hriatthiam theih khawpin a awlsam zawngin sawi ila.
Niemann-Pick natna hi eng nge ni?
A awlsam zawngin, Niemann-Pick natna hi kan taksa cell chhunga thau, a nih loh leh lipids, a tul lo taka a awm khawm avanga lo piang chhuak a ni.
Tunah chuan, "Heng lipids te hi eng nge ni? Engvangin nge an pungkhawm?" Hetiang hian han sawifiah teh ang.
Kan taksaa cell tin hi factory tenau tak angin ngaihtuah rawh. He factory hian hna a thawh theih nan chakna a mamawh a ni. Chu chakna chu kan ei leh in atanga lo chhuak a ni. Heng ei tur a thau (lipids) leh protein te hi kan cell chhungah te te te in a then a, chakna siam nan kan hmang thin. Chu bakah, heng lipids (entir nan, cholesterol leh oil) te hi hna pawimawh tak tak, kan cell bang siam leh hormone siam chhuahna atan pawh a mamawh a ni.
A tlangpuiin mi hrisel taksaah chuan heng lipids te hi a hman zawh hunah emaw, a tam lutuk chuan enzyme bik a awm a, chu chuan a tichhia a, taksa atanga a paih chhuak thin. Factory atanga bawlhhlawh paih chhuah thin system ang bawkin.
Mahse Niemann-Pick natna vei tan chuan ka sawi tak lipids tichhe thei enzyme emaw protein emaw siam chhuahnaah hian genetic defect a awm a. Chumi avang chuan hman theih loh, tul lo lipids te chu cell chhungah a awm tan ta a ni. Factory-a bawlhhlawh paihna system chhe tawh tak, bawlhhlawh bawm ang mai a ni.
Hetiang hian lipids hi hmun khatah chauh a awm khawm lo.
- Thluak
- Thin
- Spleen tih hi a ni
- Chuap
- Bone marrow a ni
Chûngte chu thinlung ang chi taksa peng pawimawh tak takte cell chhungah an insiam a ni. Hun a kal zel a, heng lipids te hi an lo pung zel a, chu taksa pengte chu a thawk tha thei lo. Chutah chuan symptoms a lo lang tan ta a ni.
He natna lan chhuah dan berte chu engte nge ni?
Heng lipids te hi a awmna organ a zirin symptoms a inang lo thei. Natna chi hrang hrang a zirin symptom pawh a inang lo. Mahse, a lan chhuah dan tlangpui engemaw zat a awm.
Neurological Symptoms a awm thei
Heng symptoms te hi thluak cell-a lipids a awm hian a lang chhuak thin.
- Ataxia: Hei hi taksa ruhte hian tumruh taka chetna, kea kal emaw, thil pakhat pan emaw ang chite a thunun thei lo tihna a ni. Taksa chu a nghet lo va, a nghet lo niin a inhria.
- Muscle chak lohna: 1.1.Taksa chu nunna nei lo niin a inhria a, taksa ruh (muscle tone) a tlahniam bawk.
- Spasticity: A chang chuan taksa ruh te hi a nghet a, a inzawm khawm thei bawk. Movement pawh a harsa hle.
- Thusawi harsa: Thusawi thiam lo, chiang taka sawi thei lo.
- Thluak hnathawh a tlahniam zauh zauh: Hun kal zelah hriatrengna leh zir theihna ang chi thil a tlahniam thei.
Taksa peng dang nena inzawm symptoms
- Liver leh spleen a hring: Hei hi chhinchhiahna hmuh hmasak ber zinga mi a ni fo. Heng taksa peng pahnih hi lipid deposit vangin an lian chho zel a ni. Hei hian naupang pum chu hmalam panin a rawn chhuak a, a hring chhuak ang maiin a lang.
- Ei leh in harsa: He natna hian naupang tê tête a nghawng nasa hle.
- Mit chet dan inthlak danglam: Chunglam leh hnuai lam en harsatna a awm thei.
- Cornea a inthlak: Cornea chu a thim thei.
- Cherry-red spot: Hei hi a lan chhuah dan chiang tak a ni. Doctor-in mit a enfiah hian retina lai takah cherry ang maia sen hring an hmu thei. Hei hi mi zawng zawngah a thleng vek lo va, damlo thenkhat erawh chuan an thleng ve tho.
A pawimawh ber chu heng symptoms te hi a lo lang thut loh hi a ni. Zawi zawiin an lo thang lian a, zawi zawiin an lo thang lian a. Chuvangin rinhlelhna i neih chuan a rang thei ang bera Doctor thiam tak hmuh a, thurawn lak a pawimawh hle.
He natna hi chi thum a awm a.
Niemann-Pick natna hi a inang vek lo. A chi thum a awm a (classification thenkhatah chuan a tam zawk bawk). A chi tin hian natna chhan, a lan chhuah dan leh a kal dan a inang lo vek a. A danglamna hrethiam turin table hmang ila.
| Natna chi hrang hrang | Thil langsar ber leh thilsiam | Chhan |
|---|---|---|
| Type A tih a ni |
| Enzyme sphingomyelinase hnathawh that tawk loh. He enzyme hian lipid sphingomyelin chu a ti chhe vek a. |
| Type B tih a ni | A chhan chu type A nen a inang a, chu chu sphingomyelinase enzyme hnathawh a tlahniam tihna a ni. Mahse, hetiang a nih chuan type A nen khaikhin chuan enzyme activity engemaw zat chu a la awm reng a ni. | |
| Type C. tih a ni | A chhan chu enzyme a ni lo. Protein pahnih NPC1 emaw NPC2 emaw an tih zinga pakhat tlakchhamna a ni. Heng protein te hian cell chhunga cholesterol leh lipid dangte an phur lut thin. |
Type D chungchanga hriat tur tlem
Tun hma chuan Canada rama Nova Scotia biala pi leh pute inang tlang tak atanga lo piang type C vei te chu type D an ti thin a, mahse tunah chuan type C-a tel ve ve a ni tih kan hre ta a, NPC1 gene-a chhiatna bik avanga lo awm a ni.
Hei hi enkawl dan tur a awm em?
He zawhna chhanna hriat hi nang leh mi zawng zawng tan a pawimawh hle. Dik tak chuan tun thleng hian Niemann-Pick natna hi damdawi a la awm lo.
Chuti a nih chuan doctor-te hian eng nge an tih?
Tuna enkawlna te hi supportive treatment a ni . Chu chu, natna hi tihdam theih a nih loh laiin, a natna lan chhuah dan an thunun a, damlo chu a theih ang anga thlamuanna an pe a, nun awlsam zawka siam turin an pui tihna a ni.
- Hri kai laka invenna: Heng damlote, a bik takin naupangte hian hri kai an nei fo thin. Chuvangin Pneumonia ang chi natna laka venhim a pawimawh hle.
- Nutrition: Naupang ei harsatna nei te chu feeding tube hmanga chaw pek a ngai mai thei.
- Physiotherapy: Exercise leh physical therapy hmanga enkawlna hian taksa ruh (muscle stiffness) (spasticity) control nan a pui thei a, ruhkawr te pawh a thawk tha thei bawk.
- Thâwk harsatna enkawlna: Type B damlote ang bawkin lung a nghawng a nih chuan supplementary oxygen a ngai mai thei.
Experimental hmanga enkawlna te
- Bone marrow transplantation: Hei hi type B vei tlemteah an lo enchhin tawh a, mahse standard treatment a la ni lo.
- Enzyme replacement therapy leh gene therapy: Scientist-te chuan heng enkawlnate hian nakin lawkah type B damlote tan hlawkna engemaw chen a thlen ngei an beisei a, mahse hengte hi zirchianna stage-ah a la awm a ni.
Mi tam tak chuan an ei leh in control a, ei tur thau an ei tlem chuan heng lipids pungkhawm hi an titawp thei niin an ngai. Mahse thudik tak chu an ei leh in thlak danglam hian cell chhunga lipids awmkhawm chu a titawp thei lo. A chhan chu buaina chu pawn lam atanga ei tur thauah a ni lo va, taksaa genetic defect avanga cell chhunga thil thleng a ni zawk.
Nakin hun chungchâng eng nge i sawi theih ang? (Prognosis) tih a ni.
Hei hi sawi tur thupui sensitive tak a ni. Damlo hmalam hun, a nih loh leh a hmalam hun tur chu natna chi hrang hrangah a innghat vek a ni.
- Type A: A hmaa kan sawi tawh ang khan hei hi a na ber chi a ni. Hetiang natna vei naute hi nausen lai, kum 2-3 an tlin hmain an thi tlangpui a, chu chu natna hrik emaw, nervous system dysfunction vang emaw a ni.
- Type B: Heng damlote hi an dam rei thei hle. Ṭhenkhat chu puitlin thlengin an nung a. Mahse, lung a chhiat avangin dam chhung damdawi lam enkawlna an mamawh thei a, a chang chuan oxygen support an mamawh thei bawk.
- Type C: 1.1.He natna hmalam hun tur hi sawi lawk a har hle a, a chhan chu a natna lanchhuahna kum leh a kal dan hi mi hrang hrangah a inang lo hle a ni. Naupang thenkhat chu an naupan laiin an thi a, natna lan chhuah dan tlai leh natna khirh lo zawk nei te erawh chu puitlin thlengin an dam thei thung.
Take-Home Thuchah a ni
- Niemann-Pick natna hi a tlem hle a, rochun atanga lo piang, taksa cell chhunga thau (lipids) awmkhawmna a ni.
- Hei hi chi thum (A, B, leh C) a awm a. Type A hi a na ber a ni. Type B hian lung leh thin a nghawng ber a, type C hian nasa takin nervous system a nghawng thung.
- A tir lamah chuan pum na (liver/spleen lian), kea kal harsatna, leh than chak lohna te ang chi symptoms te chu a tir lamah hmuh theih a ni.
- He natna hi damdawi a la awm lo. Thil tih tur awm chhun chu a natna lan chhuah dan control a, damlo tan hahdamna pek a ni.
- I fain heng symptoms te hi a nei nia rinhlelhna i neih chuan hlauthawng suh la, a rang thei ang bera naupang enkawltu thiam tak emaw doctor dang emaw pan rawh.
- Hetiang natna hlauhawm tak takte zirchianna hi khawvel hmun hrang hrangah a thleng mek a ni. Nakin lawkah enkawlna tha zawk a lo chhuah ngei kan beisei vek ang u.
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