Ntawm ntau qhov tshwm sim ntawm kev mob qaug dab peg thaum yau, Dravet's syndrome nyob hauv ib qho chaw tshwj xeeb thiab tej zaum qhov mob hnyav tshaj plaws thiab muaj kev phom sij rau tus menyuam. Cov tsos mob no tshwm sim nws tus kheej nyob rau hauv thawj xyoo ntawm tus me nyuam lub neej thiab feem ntau ua rau muaj kev ua txhaum loj ntawm nws txoj kev loj hlob psychomotor, thiab qee zaum tuag. Peb yuav tham txog tus kab mob uas tsis tshua muaj no, nws cov tsos mob tseem ceeb thiab kev kho mob tom qab hauv kab lus.
Hauv qhov xwm txheej twg nws tau hais tias muaj Dravet's syndrome?
Drave's syndrome tsis yog qhov tshwm sim - nws tau sau tseg tias 1 tus neeg rau 40 txhiab tus menyuam yug tshiab raug cuam tshuam los ntawm cov kab mob no (tsis tas li ntawd, cov tub hluas muaj txog 66% ntawm cov neeg mob). Tab sis qhov no, los ntawm txoj kev, ua rau muaj qhov tseeb tias cov kws kho mob qee zaum pom tias nws nyuaj los tsim qhov kev kuaj mob kom raug thiab, yog li, lub sij hawm muaj nuj nqis poob. Thiab nrog lub npe hu ua syndrome tsis muaj kev kho mob, tus mob ntawm tus menyuam,Nyias muaj nyias hnub nyoog.
tshuaj, koj tuaj yeem xav tias Dravet syndrome.
Cov menyuam yaus feem ntau ntsib ntau yam kev tawm tsam thoob plaws ib hnub, thiab tus mob no kav ntev li ib lub lis piam. Tom qab ntawd, muaj ib tug lull rau ob peb lub lis piam, thiab txhua yam rov ua dua.
xwm txheej mob vwm hauv Dravet syndrome yog qhov muaj ntau. Tej zaum nws yuav nrog convulsions los yog tsis convulsive, nyob rau hauv daim ntawv ntawm ib qho kev cuam tshuam ntawm kev nco qab ntawm kev sib txawv siv nrog segmental myoclonus (cov leeg nqaij nrawm).
Dravet Syndrome: Ua rau
Qhov laj thawj tseem ceeb ntawm cov tsos mob tau piav qhia, cov kws tshawb fawb hu ua cov tshuaj genetic predisposition, uas yog, muaj kev hloov pauv ntawm sodium channel hauv tus neeg mob cov noob.
Cov laj thawj ua rau muaj qhov tshwm sim ntawm qhov tshwm sim ntawm qhov kev piav qhia hauv cov menyuam mos feem ntau yog qhov nce hauv lub cev kub thaum muaj mob, da dej kub, kub dhau. Nws kuj tuaj yeem ua rau qaug zog hnyav lossis lub teeb stimulation (flashing teeb, mus ntawm qhov tsaus ntuj mus rau ci ntsa iab, thiab lwm yam). Nws yuav tsum raug sau tseg tias tag nrho cov no thiab xyoo tom ntej ntawm tus neeg mob lub neej yuav txaus ntshai rau nws, ua rau qaug dab peg ntawm lub zog sib txawv.
Drave Syndrome: Cov tsos mob
rau lub ntsiabKev tshwm sim ntawm Dravet's syndrome tuaj yeem raug ntaus nqi rau ob qho tib si focal thiab generalized qaug dab peg. Focal qaug dab peg txawv nyob rau hauv qhov chaw ntawm excitation uas provokes lawv tshwm sim nyob rau hauv tsuas yog ib feem ntawm lub hlwb. Nyob rau hauv cov ntaub ntawv ntawm kev loj hlob ntawm pathological kev ua ntawm neurons nyob rau hauv ob hemispheres, peb tab tom tham txog generalized qaug dab peg.
Convulsions hauv Dravet syndrome feem ntau yog polymorphic. Ib tug me nyuam hauv ib xyoos tuaj yeem ntsib clonic (nrog kev hloov ntawm cov leeg nqaij), tonic (uas yog ib lub sijhawm ntev ntawm cov leeg nqaij) thiab ua rau myoclonic convulsions.
Feem ntau muaj qaug dab peg nyob rau hauv daim ntawv ntawm atypical absences - tej yam kev mob uas tus me nyuam txoj kev nco qab ib nrab los yog kiag li tsis teb rau ib puag ncig. Lub sij hawm no tus me nyuam yuav qaug zog, saib ntawm ib qho taw tes, khoov rov qab, dheev poob, lossis tsuas yog tso dab tsi nws tuav.
Feem ntau, cov npe tawm tsam tshwm sim thaum sawv ntxov, nrog rau thaum sawv ntxov (hauv kev pw tsaug zog, lawv tau kaw tsuas yog hauv 3% ntawm cov neeg mob uas muaj tus kab mob no).
Kev kho mob tshwm sim ntawm Dravet's syndrome tshwm sim li cas?
Raws li txoj cai, Dravet's syndrome txawv nyob rau hauv uas cov tsos mob muaj npe tshwm nyob rau hauv ib ntus. Cov kws kho mob paub qhov txawv peb lub sijhawm tseem ceeb ntawm tus kabmob.
- Ib lub sijhawm me me, nrog rau qhov tshwm sim ntawm clonic convulsions (cov leeg nqaij nrawm, ua raws ib qho tom qab, tom qab lub sijhawm luv luv). Raws li ib tug provoking qhov teeb meem, raws li ib tug txoj cai, ib tug nce nyob rau hauv kub nyob rau hauvme nyuam, tab sis yav tom ntej lawv tej zaum yuav tshwm sim lawm thiab ntawm nws tus kheej.
- Kev nruj nruj - nrog cov tsos ntawm ntau myoclonic convulsions. Lawv feem ntau febrile (piv txwv li, nyob ntawm qhov kub thiab txias) hauv qhov xwm txheej thiab kis mus rau lub cev thiab cov ceg. Myoclonic qaug dab peg yog koom nrog atypical tsis tuaj yeem qaug dab peg thiab ua rau muaj kev qaug dab peg.
- Lub sijhawm zoo li qub uas qaug dab peg thiab tus menyuam tseem mob hlwb thiab puas hlwb.
Cov cim tseem ceeb ntawm menyuam yaus mob hnyav myoclonic epilepsy
Raws li peb tau hais, vim qhov tseeb tias Dravet's syndrome yog ib yam kab mob tsis tshua muaj, cov kws tshaj lij feem ntau pom tias nws nyuaj rau kev kuaj mob. Yog li ntawd, nws yog ib qho tseem ceeb rau cov niam txiv kom muab cov ntaub ntawv tseeb txog kev loj hlob ntawm cov kab mob pathological ntawm lawv tus menyuam. Lub npe hu ua syndrome tuaj yeem xav tias muaj cov tsos mob hauv qab no:
- kab mob tshwm sim ua ntej muaj hnub nyoog;
- qaug dab peg yog polymorphic (piv txwv li, lawv qhov tshwm sim muaj ntau yam);
- qaug dab peg tsis tso tseg nrog cov tshuaj tiv thaiv kab mob;
- qhov tshwm sim ntawm qaug dab peg yog khi rau qhov nce ntawm qhov kub ntawm tus menyuam lub cev;
- tus me nyuam muaj qhov pom kev loj hlob qeeb (qhov kos npe no tuaj yeem qhia tau ntau yam sib txawv);
- tshwm sim ntawm ataxia (kev sib koom tes ntawm kev txav) tau hais;
- MRI nyeem ntawv tsis paub meej tias muaj cov kab mob pathology (tshwj xeeb yog thaum pib ntawm tus kab mob);
- ntawm EEG - qeeb qeeb ntawm keeb kwm yav dhau los thiab kev cuam tshuam ntau yam,sawv cev los ntawm spikes thiab swings qeeb.
Ntxiv rau cov tsos mob no, cov menyuam yaus uas muaj tus mob Dravet feem ntau yog tus cwj pwm los ntawm qhov muaj qhov tsis txaus ntseeg thiab tsis mloog lus.
Kev Ntsuas rau kev txhim kho ntawm Dravet's syndrome
Kev kuaj mob rau mob myoclonic qaug dab peg feem ntau tsis zoo. Txhua tus neeg mob kuaj mob Dravet syndrome muaj kev puas siab puas ntsws, thiab ib nrab ntawm cov neeg mob hnyav heev. Tom qab muaj hnub nyoog plaub xyoos, cov neeg mob muaj kev hloov pauv zuj zus, nrog rau kev txhim kho ntawm kev coj cwj pwm txawv txawv, suav nrog kev puas siab puas ntsws.
Hmoov tsis zoo, qhov tshwm sim tuag rau hauv cov kab mob tau piav qhia kuj yog siab heev - txog li 18%, thiab nws cov laj thawj feem ntau tshwm sim thaum qaug dab peg lossis xwm txheej mob vwm.
Yuav kom txo tau txoj kev pheej hmoo ntawm qhov tshwm sim loj heev thaum qaug dab peg, cov niam txiv yuav tsum muaj kev nkag siab zoo txog kev pab thawj zaug rau kev qaug dab peg.
Yuav ua li cas pab thawj zaug rau convulsions tshwm sim los ntawm kub taub hau?
Yog tus me nyuam muaj qaug dab peg los ua npaws (uas, raws li koj nco qab, yog ib qho ntawm cov cim tseem ceeb ntawm tus kab mob no), ua raws li cov cai no:
- ntev tus me nyuam rau ntawm qhov chaw tiaj tus;
- ua kom huab cua ntshiab;
- pab me nyuam lub qhov ncauj ntawm muv;
- tig tus me nyuam lub taub hau rau sab;
- siv tshuaj tiv thaiv kab mob.
Yog tus menyuam muaj qhov ua npaws, uas yog, lub hauv pliaj kub, thiab lub ntsej muagreddened, ces kev pab thawj zaug rau convulsions yuav tsum tau tsom rau txo qhov kub thiab txias (txias ntub compress nyob rau hauv lub hauv pliaj, txias rau lub hauv pliaj thiab nyob rau hauv puab tais, rub lub cev nrog dej thiab vinegar nyob rau hauv ib tug ratio ntawm 1: 1, antipyretics).
Yog tus menyuam muaj tawv nqaij daj ntseg, daim di ncauj liab thiab rau tes, ua daus no, txias taw thiab ob txhais tes, ces yuav tsum tsis txhob ua kom rub thiab compresses txias. Tus menyuam yuav tsum tau sov so, muab tshuaj tua kab mob, nrog rau No-shpa lossis Papaverine ntsiav tshuaj ntawm tus nqi ntawm 1 mg rau 1 kg ntawm qhov hnyav kom nthuav cov hlab ntsha.
Pab nrog txuas ntxiv qaug dab peg
Thaum qhov tshwm sim ntawm kev mob qaug dab peg ntev nrog kev mob qog noj ntshav thiab tonic convulsions ntawm tus menyuam, koj yuav tsum:
- ntev rau ntawm qhov chaw tiaj tus;
- muab ib yam mos mos rau hauv qab kom tus menyuam tsis txhob ntaus;
- ua kom huab cua ntshiab;
- Tshem lub qhov ncauj thiab caj pas ntawm cov hnoos qeev;
- tig koj lub taub hau rau sab;
- khi ib daim ntaub rau hauv ib lub pob thiab ntxig rau ntawm cov hniav kom tsis txhob tom tus nplaig thiab daim di ncauj, txij li tus menyuam hnub nyoog ib xyoos tuaj yeem tawg nws cov hniav ntawm cov khoom tawv (daav, stick);
- so ua npuas ncauj ntawm lub qhov ncauj nrog phuam;
- nco ntsoov tias thaum muaj kev tawm tsam tus me nyuam tsis txhob tsoo ib yam dab tsi.
Yog tias convulsions coj raws li txoj cai, koj yuav tsum hu rau lub tsheb thauj neeg mob.
Cov ntsiab cai tseem ceeb rau kev kho cov menyuam yaus nrog Dravet's syndrome
Kev kho mobtus me nyuam mob nrog tus kab mob piav qhia yog txo kom qaug dab peg thiab tiv thaiv kev txhim kho ntawm lawv daim ntawv teev npe.
Thaum Dravet's syndrome raug kuaj pom, kev kho mob tsis suav nrog kev siv tshuaj tiv thaiv kab mob uas muaj npe nrov: Carbamazepine, Finlepsin, Phenytoin thiab Lamotrigine, vim lawv tsuas ua rau tus neeg mob hnyav zuj zus, ua rau muaj kev qaug dab peg uas twb muaj lawm.
Ntxiv rau qhov yuav tsum tau siv tshuaj kho mob, nws tseem ceeb heev uas yuav tsum nco ntsoov txog kev tiv thaiv kub taub hau, vim tias qhov mob no tshwj xeeb tshaj yog rau tus neeg mob. Txhawm rau kom tsis txhob muaj kev tawm tsam los ntawm lub teeb pom kev zoo, nws raug nquahu kom hnav tsom iav nrog lub ntsej muag xiav lossis ib lub khob kaw.
Tshuaj kho rau Dravet syndrome
Thaum kuaj pom tseeb, kev kho mob pib pib nrog kev siv Topiramate. Nws raug sau tseg ntawm koob tshuaj 12.5 mg / hnub, maj mam nce mus rau 3-10 mg / kg / hnub. (Cov tshuaj noj ob zaug ib hnub). Qhov kev kho no yog tshwj xeeb tshaj yog muaj txiaj ntsig nyob rau hauv cov xwm txheej uas tau piav qhia txog kev qaug dab peg thaum yau yog tshwm sim los ntawm kev qaug dab peg thiab paroxysms nrog kev hloov pauv ntawm ib sab ntawm lub cev mus rau lwm qhov (hemiconvulsions).
Cov tshuaj hauv qab no rau kev kho mob monotherapy yog cov khoom siv ntawm valproic acid (syrup "Konvuleks", "Konvulsofin", thiab lwm yam) - tshwj xeeb tshaj yog zoo rau kev tsis tuaj yeem thiab myoclonus, nrog rau barbituric acid ("Phenobarbital"), siv rau generalized convulsions, nrog ib tug nyiam mus rau ib tug raws li txoj cai. Los ntawm txoj kev, nyob rau hauv cov ntaub ntawv no, ib tug siabbromide efficiency.
Yog tias tsim nyog, siv cov tshuaj sib xyaw ua ke. Qhov zoo tshaj plaws ntawm lawv yog kev sib xyaw ntawm valproates nrog Topiramate.
