Niemann-Pick Disease hi i hre tawh em? He dinhmun rare tak hi han sawi ila!

Niemann-Pick Disease tih hi i hre tawh em? He hming hi i tan chuan thil thar a ni mai thei. A nihna takah chuan chhungkaw hrang hranga kal thin, genetic disease a ni. Kan taksaa thil pawimawh thenkhat, a bik takin lipids te chu thunun theih lohvin a lo pungkhawm thin. Chuvangin vawiinah hian he natna chungchang hi sawi mai ila, kan sawi dawn em ni?

Niemann-Pick Disease hi eng nge ni?

A awlsam zawngin sawi ila, Niemann-Pick natna hi lipids, oils, fatty acids, leh cholesterol te chu kan cell-ah a in\hen darh \ha a, chakna-ah a chantir a, kan cell-ah a pung khawm a ni. Hengte hi inherited metabolic disorders , nu leh pa atanga fate hnena kai theih tihna a ni. Chutiang chuan thluak, ril, thin, lung, leh ruhro ang hmunah te lipid tha lo tak tak a awm khawm thin.

He natna lan chhuah dan tlangpui engte nge ni?

Chutianga thau a punkhawm chuan symptom hrang hrang a awm thei. Mi thenkhat chuan nervous system nena inzawm harsatna an tawk thin.

• Ataxia: Hei hi tumruh taka chetna, entirnan, kea kal laia taksa ruh (muscles) control theih lohna a ni.
• Muscle chakna tlahniam.
• Thluak hnathawh a tlahniam zauh zauh.
• Kawng lakah pawh hypersensitivity a awm.
• Spasticity: Hei hian taksa ruhte a khauh a, a kal dan pangngai lo tihna a ni.
• Thusawi laiin tlu chhuak.

Chu bâkah, ei leh in lama harsatna, mit tichhe, zir thiam lohna, leh thin leh ril a lian thei bawk. A châng chuan, mitmeng (cornea)-ah chuan chhum a awm thei a, retina lai takah chuan cherry-red halo a awm thei bawk.

Niemann-Pick natna chi hrang hrang a awm em?

Ni e, he natna hi chi thum a awm a, chungte chu chi A, B, leh C te an ni.

A chi hrang hrang: 1.1.

Hei hi natna chi khat na ber a ni. Nausen naupangte a nghawng tlangpui a, a tlangpuiin thla engemaw zat an tlin hmain a nghawng thin . Juda chhungkuaah a hluar zual hle.

• A symptoms chu zawi zawiin hriatna hloh a ni.
• Liver leh spleen chu a lian ta hle mai.
• Lymph node te chu a hring vek a.
• Thla ruk a tlin chuan thluak chhiatna nasa tak a thleng thei a ni.

Lungchhiatthlak takin heng type A naute hi a vaiin thla 18 aia rei an dam tam lo hle.

Type B: 1.1.

Hei hi naupan laiah a lang tlangpui a, kum sawm emaw kum sawm leh pahnih emaw vel a ni .

• Heng mite hian ataxia leh peripheral neuropathy ang chi symptoms an nei thei bawk.
• Mahse a tam zawkah chuan thluak ah nghawng a nei vak lo.
• Heng mite hian liver leh spleen lian tham leh lung lama harsatna an nei thei bawk.

Type A leh B pahnih awm chhan chu:

Heng chi hnih lo awm chhan ber chu kan taksa cell tina awm, sphingomyelin an tih lipid tichhia tura puitu enzyme sphingomyelinase , a thawk tha tawk lo vang a ni. Chuvang chuan sphingomyelin an tih lipid chu cell-ah toxic tam takin a pung khawm a ni.

Type C: 1.1.

Hetiang chi hi naupan lai atanga tan theih a ni a, a nih loh leh tleirawl lai emaw, puitling emaw a lo lang thei bawk .

• Hei hi protein pahnih NPC1 emaw NPC2 proteins an tih tlakchham vang a ni .
• Heng mite hian thluak chhiatna nasa tak an nei thei a, chu chuan chung leh hnuai lam hawi harsatna, kal leh ei harsa, mit leh hriatna hloh zawi zawiin a thlen thei a ni.
• Liver leh spleen pawh a lian tawk lo thei bawk.
• Tun hma chuan he type C-a mi, Nova Scotia an tih hmunah hian pi leh pute inthlauhna nei, type D an ti bawk a, mahse tunah chuan type C hnuaiah a awm ta a ni.

Hei hi enkawl dan tur a awm em?

Dik tak chuan Niemann-Pick natna hi damdawi a awm lo . Tunah hian symptoms control thei leh relief pe thei supportive treatment chauh a awm. Vawi tam tak chu heng naupangte hian hri kai vang emaw, nervous system chak lo zauh zauh vang emaw hian an nunna an chan thei a ni.

• Tunah hian Type A vei tan enkawlna tha tak a la awm lo.
• Type B vei thenkhat chu ruhro (bone marrow transplant) an nei tawh bawk . Zirchiangtute chuan nakin lawkah Type B vei tan enzyme replacement therapy leh gene therapies ang chi thil hi a tangkai thei ang tih an ring bawk.
• I ei leh in control hian heng thau chi hrang hrangte hi cell leh tissue-a awmkhawm hi a titawp thei lo.

Natna hmalam hun chu eng nge ni ang?

He natna hmalam hun, chu chu damlo chu eng chen nge a dam theih ang tih leh a dam dan tur chu natna chi hrang hrang a zirin a inang lo.

• Type A vei naute chu a hmaa kan sawi tawh ang khan nausen laiin an thi thin .
• Type B vei naupangte hi midang aiin an dam rei zawk thei a , mahse lungah nghawng a neih avangin supplement oxygen pek an ngai mai thei.
• Type C vei dam chhung hi a inang lo. Mi ṭhenkhat chu naupan laiin an thi thei a, mahse, natna lan chhuahna na lo zâwk nei ṭhenkhat chu puitling thlengin an dam thei .

Hemi chungchangah hian eng zirchianna thar nge thleng mek?

Niemann-Pick natna chungchangah hian khawvel hmun hrang hrangah zirchianna neih mek a ni a, a bik takin United States-a National Institute of Neurological Disorders and Stroke (NINDS)-ah te , chutiang bawkinHemi kawngah hian National Institutes of Health (NIH) ang institution te chuan hma an la mek a ni.

• He natna lo awm theihna tura puitu gene an zawng nasa hle. Entirnan, Niemann-Pick type C thlentu gene chhia pahnih (NPC1 leh NPC2) an hmuchhuak a.
• Scientist te pawhin he thau khawlkhawm hian taksa a tihchhiat dan an zirchiang mek bawk.
• Research pawh kalpui mek a ni a, biomarker , a nih loh leh natna a awm tih tilangtu chhinchhiahna, lipid storage disorder hriat hmasak theihna tura pui theitu te pawh hmuhchhuah a ni. Hengte hian diagnosis tihchangtlunna kawngah a puih ngei a beisei.

A tawp berah chuan i sawi tur chu...

Okay, chuvangin Niemann-Pick Disease chungchang kan sawi tawh atang khan ngaihdan i neih ka beisei.

Hei hi hre reng ang che: Niemann-Pick natna hi thil awm lo, rochun atanga lo piang, taksaa thau awmkhawm dan pangngai lo a ni.

• He natna hi chi thum a awm a, chungte chu A, B, leh C , a lan chhuah dan leh a nasat dan a inang lo vek a ni.
• Type A hi a na ber a , nausen naupang te a nghawng a ni. Type B hi naupan laiah a lang thei a, type C hi kum eng pawhah a lang thei bawk.
• There is still no complete cure for this , a symptoms control thei supportive treatment chauh a ni.
• Mahse zirchianna chuan enkawlna thar a hmu chhunzawm zel a ni .
• I chhungkuaa mi tu emaw chuan heng natna hi a neih chuan, emaw, he natna chungchang hi hriat belh i duh chuan, specialist hnenah thurawn dil a tha ber . Heng natna hlauhawm tak tak vei te leh an chhungte tanpui thin support group leh organization te pawh i en thei bawk.

He thu hi i tan a tangkai ngei kan beisei. Hrisel takin awm rawh!

Niemann -Pick Natna, genetic natna, thau tamna, naupang natna, nervous system, natna hmuh tur awm lo