Dab tsi yog Niemann-Pick disease, cov tsos mob thiab kev kho mob

Zoo Siab

• Cov tsos mob tseem ceeb
• 1. Hom A
• 2. Hom B
• 3. Hom C
• Dab tsi ua rau muaj tus mob Niemann-Pick
• Yuav kho tus mob li cas

Niemann-Pick tus kab mob yog ib qho tsis tshua muaj caj ces tshwm sim los ntawm kev tsub zuj zuj ntawm macrophages, uas yog cov ntshav cov ntshav ua lub luag haujlwm rau kev tiv thaiv ntawm cov kab mob, tag nrho cov lipids hauv qee cov kabmob xws li lub hlwb, tus po los yog mob siab.

Tus kab mob no tsuas yog cuam tshuam nrog qhov tsis muaj peev xwm nyob rau hauv enzyme sphingomyelinase, uas yog lub luag haujlwm rau lub cev metabolization ntawm cov rog hauv cov hlwb, uas ua rau cov rog rog tuaj yeem hauv cov hlwb, uas ua rau cov tsos mob ntawm tus kab mob. Raws li kev hloov khoom nruab nrog, qhov mob hnyav ntawm enzyme tsis muaj peev xwm thiab lub hnub nyoog uas cov cim thiab cov tsos mob tshwm sim, Niemann-Pick kab mob tuaj yeem raug faib ua qee yam, lub ntsiab yog:

• Hom A, tseem hu ua mob neuropathic Niemann-Pick kab mob, uas yog hom hnyav tshaj plaws thiab feem ntau tshwm sim hauv thawj lub hlis ntawm lub neej, txo kev ciaj sia nyob ib puag ncig 4 txog 5 xyoos;
• Hom B, tseem hu ua visceral Niemann-Pick disease, uas yog hom tsawg dua A uas tso cai rau kev muaj sia nyob ua neeg laus.
• Hom C, kuj tseem hu ua kev mob neuropathic Niemann-Pick kab mob, uas yog hom kev sib luag uas nquag tshwm sim thaum menyuam yaus, tab sis tuaj yeem txhim kho thaum muaj hnub nyoog, thiab yog ib qho enzyme kho tsis zoo, koom nrog cov kev sib ntxiv cov roj cholesterol.

Kuj tseem tsis muaj kev kho tau tus kabmob Niemann-Pick, txawm li cas los xij, nws tseem ceeb uas yuav tsum tau mus ntsib kws kho mob menyuam yaus txhawm rau ntsuas seb puas muaj cov tsos mob tuaj yeem kho tau, txhawm rau txhim kho tus menyuam lub neej zoo.

Cov tsos mob tseem ceeb

Cov tsos mob ntawm tus kab mob Niemann-Pick sib txawv raws li hom kab mob thiab cov kabmob uas cuam tshuam nrog, yog li cov cim qhia feem ntau ntawm txhua yam muaj xws li:

1. Hom A

Cov tsos mob ntawm Niemann-Pick type type A feem ntau tshwm sim nruab nrab ntawm 3 txog 6 hlis, pib ua cim ntawm o ntawm lub plab. Tsis tas li ntawd, tej zaum yuav nyuaj rau kev loj hlob thiab nce phaus, ua pa uas ua rau mob rov qab thiab kev loj hlob ntawm lub hlwb mus txog 12 lub hlis, tab sis qhov uas tom qab ntawd ua rau tsis zoo.

2. Hom B

Piv txwv hom B yog zoo ib yam li cov mob hom A Aememann-Pick, tab sis feem ntau tsis tshua loj heev thiab tuaj yeem tshwm rau cov menyuam yaus tom qab los yog thaum tiav hluas, piv txwv. Muaj feem ntau me me lossis tsis muaj kev xav tsis meej.

3. Hom C

Cov tsos mob tseem ceeb ntawm hom kab mob C Niemann-Pick yog:

• Kev nyuaj ntawm kev sib koom tes ntawm kev txav mus los;
• O lub plab;
• Nyuaj txav koj ob lub qhov muag ntsug;
• Txo cov leeg tsis muaj zog;
• Mob siab lossis mob ntsws;
• Nyuaj hais lus los yog nqos, uas yuav ua rau lub sijhawm tsis zoo;
• Kev nrawm nrawm;
• Maj mam poob ntawm qhov kev xav ntawm lub hlwb.

Thaum cov tsos mob tshwm sim uas tuaj yeem qhia tus kab mob no, lossis thaum muaj lwm yam mob hauv tsev neeg, nws yog ib qho tseem ceeb kom sab laj nrog neurologist lossis tus kws tshaj lij rau kev kuaj mob kom pab ua tiav kev kuaj mob, xws li kuaj pob txha pob txha lossis kuaj nqaij daim tawv, kom paub meej muaj mob.

Dab tsi ua rau muaj tus mob Niemann-Pick

Niemann-Pick kab mob, hom A thiab hom B, tshwm sim thaum lub hlwb ntawm ib lossis ntau lub plab hnyuv siab tsis muaj enzyme hu ua sphingomyelinase, uas yog lub luag haujlwm rau metabolizing cov rog uas nyob hauv cov hlwb. Yog li, yog hais tias lub enzyme tsis nyob hauv, cov rog tsis tau tshem tawm thiab nthuav tawm nyob rau hauv lub cell, uas xaus rau rhuav tshem lub cell thiab ua rau lub cev ua haujlwm tsis zoo.

C hom kab mob no tshwm sim thaum lub cev tsis tuaj yeem tiv thaiv cov roj (cholesterol) thiab lwm cov rog, uas ua rau lawv nyob hauv lub siab, tus po thiab lub hlwb thiab ua rau cov tsos mob tshwm sim.

Hauv txhua qhov xwm txheej, tus kab mob tshwm sim los ntawm kev hloov caj ces los ntawm niam txiv mus rau me nyuam thiab, yog li ntawd, muaj ntau dua hauv tib tsev neeg. Txawm hais tias cov niam txiv yuav tsis muaj tus kab mob, yog tias muaj ntau yam mob hauv ob tsev neeg, muaj 25% ntawm kev yuav ua rau tus menyuam yug los nrog Niemann-Pick syndrome.

Yuav kho tus mob li cas

Txij li thaum tseem tsis muaj kev kho rau tus mob Niemann-Pick, tseem tsis muaj kev kho mob tshwj xeeb thiab, yog li, nws tseem ceeb heev uas yuav tsum muaj kev soj ntsuam tas li los ntawm kws kho mob txhawm rau txheeb xyuas cov tsos mob thaum ntxov uas tuaj yeem kho tau, txhawm rau txhim kho lub neej zoo Cov.

Yog li, yog tias nws nyuaj rau nqos, piv txwv li, nws yuav tsim nyog kom tsis txhob noj zaub mov tawv thiab tawv, nrog rau kev siv gelatin kom cov kua tuab. Yog tias muaj mob pheej chua leeg ntau zaus, koj tus kws kho mob tuaj yeem sau tshuaj rau noj cov tshuaj anticonvulsant, xws li Valproate lossis Clonazepam.

Ib daim ntawv ntawm cov kabmob uas pom tias muaj tshuaj uas muaj peev xwm ncua sijhawm rau nws txoj kev txhim kho yog hom C, vim tias kev tshawb fawb pom tias cov tshuaj miglustat, muag li Zavesca, thaiv kev tsim cov plaques rog hauv lub hlwb.