Dravet syndrome. sokuwa ezimandundu myoclonic of ebuntwaneni

Phakathi ezahlukeneyo oye wabonakala zobuntwana sokuwa Dravet syndrome yindawo ekhethekileyo yaye mhlawumbi ukuphazamiseka ezininzi kakhulu kunye ezisongela ubomi bomntwana. Esi sifo kubonakala kunyaka wokuqala wobomi usana kukhokelela uphazamiseko kakhulu kuphuhliso lakhe lengqondo, kwaye kwezinye iimeko - nokufa. Oku kunika umdla kakhulu isifo enqabileyo kunye neempawu zayo eziphambili kunye unyango, yaye siza kuxubusha ngayo kweli nqaku.

Kwezinye iimeko, bonisa ubukho Dravet syndrome?

Dravet syndrome akuxhaphakanga - kuqatshelwe kanjalo ukuba esi sifo kuxhomekeke umntu 1 amawaka 40 kuzalwa nganye (kunye namakhwenkwe ezenza malunga 66% amatyala) .. Kodwa oku, endleleni, kukhokelela ekubeni uphethwe oluchanekileyo, oogqirha maxa wambi ukufumanisa kunzima ukufaka kwaye, ngenxa yoko, ixesha elixabisekileyo ilahlekile. Kwaye ngokuqhelekileyo xa kuthiwa syndrome ngaphandle therapy yesondlo imeko yomntwana mandundu kunye nobudala.

Ukuba kukho umntwana lowo attained kunyaka, iindywala kunye uthotho okanye ubume ngaphakathi rhoqo (okt. E., Balandela omnye komnye, kwaye isigulane kwi izithuba akezi engqondweni) kunye nemithi isenzo kwamachiza anticonvulsant, ingakrokreleka syndrome Drava.

Abantwana nalo basoloko kuhlaselo ezininzi ngexesha lasemini, yaye le meko ithatha malunga ngeveki. Ke ukuba senze ntoni ukuze eziliqela iiveki, yaye yonke into kuphindwa kwakhona.

Isimo epilepticus ne Dravet syndrome - isenzeko eliqhelekileyo. Usenokuba makakhatshwe unditsho okanye non-convulsive, eyahlukileyo ngamandla ukuphazamiseka lokuqonda kunye myoclonia segmental (fast izihlunu twitching).

Dravet syndrome: izinto

Oyena nobangela iphambili syndrome ochazwe yi abaphandi bathi yofuzo, ezizezi - ubukho kwi zofuzo sodium channel yesigulane.

izinto eyenza mandundu ekuqaleni imeko echazwe kwiintsana umkhuhlane rhoqo wenza ngexesha sisigulo, ukuthatha emanzini ashushu, nobushushu. Kwakhona, kunokuba (izibane zidanyaza, utshintsho ukusuka kwigumbi elimnyama kungena eqaqambileyo zikhanyiswe, njalo njalo. N.) kakhulu ukudinwa okanye ukukhanya inkanuko. Kufuneka kuqatshelwe ukuba zonke oku kule minyaka ilandelayo yobomi yomguli kuya kuba yingozi, ebangela uhlaselo ezahlukeneyo ngamandla yona.

Dravet syndrome: Iimpawu

Wabonakala eziphambili Dravet syndrome ekunokuthiwa, kunye focal kunye ngokubanzi ukuxhuzula. ukuxhuzula Focal zisingathwa kuloo mmandla lo excitation, Nokumphikisa kwazo, yenye nje inxalenye ebuchotsheni. Kwimeko yomsebenzi zophendlo lwezifo zemithambo-luvo zombini zifaka yinto yokuphangwa ngokubanzi.

Unditsho e Dravet syndrome avamise polymorphic ngokwendalo. Kwabantwana ngonyaka ezinokuba ziya kukhathaza clonic (kunye utshintsho kwezihlunu), i-tonic (leyo baxomoloza elide spasm kwezihlunu) nokuxutha ngokubanzi myoclonic.

Kudla kukho kwakhona ukuhlasela e ngohlobo nokungabikho Nedlac - iimeko apho ezingqondweni bomntwana ayikho ngokupheleleyo okanye ukuphendula kokusingqongileyo. Itakane nga ndindisholo ngelo xesha, ekhangela ngaxa lithile, kujikwa umva, ukuhla ngesiquphe okanye nje ukuwisa ukuba ezandleni zakhe.

Amaninzi ukuxhuzula ekhankanywe zenzeke ngexesha emini, ngokunjalo kwi uyichitha karhulumente (ephupheni, babhala% 3 kuphela ezigulane kunye nale unesifo).

Indlela ukuphuhlisa kubonakaliswa kwezonyango Dravet syndrome?

Njengomgaqo, Dravet syndrome luphawulwa yokuba iimpawu ezikhankanywe ngasentla kwenzeka ngolandelelwano ethile. Oogqirha umahluko phakathi ezintathu eziphambili yokugula.

1. Ithuba wobulali kakhulu, kunye ukubonakala uxhuzula clonic (nkqi ukudideka, elinye emva kwelinye, emva kwexesha elifutshane ixesha). Njengoko kwimeko ingqondo, njengokuba umthetho, ukuba kumi ubushushu ukunyuka umntwana, kodwa kwixesha elizayo ezinokuvela kwaye ngokuzimeleyo ngayo.
2. Ukunyuka nochuku - nokufika uxhuzula ezininzi myoclonic. Bavame febrile (t. E. Kuxhomekeka ukunyuka kwamaqondo obushushu) kwaye isicelo komboko yesiqephu. Ngokuba ukuxhuzula myoclonic join ukugula ukungabikho Nedlac nokuxutha izinto ezintsonkothileyo focal.
3. ixesha static apho kuhlaselo buthathaka, lo gama umntwana uhlala izifo luvo nasengqondweni.

Eyona engundoqo iimpawu sokuwa kakhulu myoclonic lobuntwana

Njengokuba besesitshilo, ngenxa yokuba i Dravet syndrome - isifo esinqabileyo, iingcali basoloko ubunzima ukuxilonga kuyo. Ngoko ke, abazali kubalulekile ukunika ulwazi oluchanekileyo malunga nophuhliso imeko zophendlo lwezifo bomntwana. Igama syndrome ukuze kukrokrelwa ukuba kukho ziyafumaneka ezi mpawu zilandelayo:

• esi sifo inkqubela ukusa kunyaka omnye ubudala;
• ukuxhuzula polymorphous (.. okt obubonakala ezahlukahlukeneyo);
• yokuhlasela akakayeki yokwamkela anticonvulsants ezithile;
• kukuvela uxhuzula ebotshelelwe ukwanda lobushushu emzimbeni yomntwana;
• usana ukulibaziseka buqapheleke zophuhliso (lo msebenzi osemqoka unokuba iyakubonakaliswa ezingafani);
• Iimpawu Ataxia zomlomo (iintshukumo raskoordinirovannosti);
• ubungqina MRI ukuqinisekisa ubukho bezifo (ingakumbi ekuqaleni kwesi sifo);
• EEG - linyuke kwisingqi imvelaphi kunye nokuhlukunyezwa ezininzi zingeniswe zakhe zokutyhomfa kunye namaza ezicothayo.

Ukongeza kwezi mpawu abantwana Dravet syndrome ngokuqhelekileyo luphawulwa ubukho ukungahlaliseki kunye ingqalelo disorder.

Kuqikelelo lwemozulu yophuhliso Dravet syndrome

Ipredikshini kakhulu sokuwa myoclonic kudla nezinzima. Zonke izigulane banesifo Dravet syndrome waphawula ukukhubazeka engqondweni, ube sisiqingatha kunzima. Emva kweminyaka izigulane ezine kukho ukwehla ngcembe, kunye nophuhliso ezingaqhelekanga zokuziphatha, kuquka ukugula ngengqondo.

Ngelishwa, ebulalayo kwi ezimbi ezichazwe nayo phezulu kakhulu - ukuya kutsho kuma-18%, kwaye idala iingozi osetyenziswe ngexesha uxhuzula okanye isimo epilepticus.

Ukwenzela ukunciphisa ingozi nemiphumo emibi ngexesha iwuthimbe lo mntwana, abazali kufuneka bayiqonde kakuhle indlela ukunika uncedo lokuqala ukuxhuzula.

Indlela ukunika uncedo lokuqala uxhuzula okubangelwa amaqondo obushushu aphezulu?

Ukuba umntwana lowo ukuxhuzula ukuphendula ukunyuka kwamaqondo obushushu (apho, njengokuba ukuze ukhumbule, esi sifo yenye iimpawu eziphambili), uyigcine le mithetho ilandelayo:

• Beka usana endaweni ethe tyaba;
• ukunika umoya omtsha;
• ukucoca umlomo zosana yencindi yomlomo;
• vula intloko somntwana ukuya kwicala elinye;
• Chitha imisebenzi antipyretic.

Ukuba umntwana uthe wavakalisa ngumkhuhlane, oko kukuthi, nokuba kusempandleni yakhe eshushu, ubuso bakhe kugungxula indlu yakho, ngoko zoncedo lokuqala nokuxutha izinto ezijolise ekunciphiseni lobushushu (ebandayo cutha olumanzi ebunzi, abandayo emakhwapheni yaye nasemiphakathweni, lo rubdown umzimba ngamanzi kunye neviniga kwi om-1 1, antipyretics).

Ukuba itakane kwisiqalo yesikhumba eliphezulu lobushushu kukuthi, imilebe baluthuthu bamantshontsho nezinzipho, kuthibaza, iinyawo ezibandayo kunye neentende, le rubdown kunye Oluma abandayo kufuneka kwenziwe. nosana Lifudumele kufuneka anike antipyretics, yaye amacwecwe "No-Spa" okanye "Papaverine" izinga 1 mg 1 kg ubunzima bomzimba nganye vasodilatation.

Nceda xa eziku sokuwa

Kwimeko apho umntu axhuzule eziku unesathuthwane kunye unditsho ngokubanzi clonic kwaye tonic zomntwana kufuneka ube:

• wabeka endaweni ethe tyaba;
• phantsi kwentloko ukuba Somrhaqa into ethambileyo, usana akazange alwe nayo;
• ukunika umoya fresh ukutya;
• ekucoceni emlonyeni nasemqaleni yencindi yomlomo;
• vula intloko yakho icala elinye;
• associate phi isiziba somchako ibe ngeqhina uyifake phakathi kwamazinyo ukuthintela zabaluma ngolwimi nemilebe, njengoko umntwana konyaka inokuba into eqinileyo (ngecephe, intonga) ukwaphula amazinyo akhe;
• kuzisula wabonakala emlonyeni amagwebu itawuli;
• ukuqinisekisa ukuba ngexesha uhlaselo umntwana akabi hit kwinto ethile.

Ukuba unditsho thatha indlela ubume, qiniseka ukubiza "yezigulane."

imigaqo esisiseko onyango abantwana Dravet engqondweni

unyango umntwana egulayo wesifo deceleration echazwe kuyehla ukuthintela uphuhliso uxhuzula kunye nefomu yabo status.

Xa lokufunyaniswa unyango "Dravet syndrome" aliquki ukusebenzisa eyaziwa ngokubanzi iziyobisi antiepileptic: "Carbamazepine", "Finlepsin", "Phenytoin" yaye "lamotrigine" kuba sibe sibi imeko yesigulane kuphela, udityaniso ngaphakathi iintlobo ekhoyo ukuxhuzula.

Ukongezelela kunyango ngamachiza inyanzelekile, kubalulekile ukuba ukhumbula kuthintelo ifiva, ekubeni yimeko eyingozi ngokukodwa kumguli. Ukuze ngaphandle ukuhlaselwa ezenza kwayo yokulola kukhanya wanikelwa ukuba banxibe nkulu lens blue okanye enye iglasi tape.

Dravet syndrome Drug Therapy

Ukuba uphethwe kuqinisekisiwe, unyango luqala ekuqaleni ichiza "Topiramate". Oku emiselweyo ithamo 12.5 mg / imini., Ngcembe ukwandisa ukuya 3-10 mg / kg / ngosuku. (Medicine athathwe kabini ngosuku). Esi sixhobo iluncedo ingakumbi kwiimeko apho abantwana wachaza ukuxhuzula kubonakala ukuxhuzula ngokubanzi paroxysms of unditsho kunye usuke kwelinye isiqingatha umzimba ukuya kwenye (gemikonvulsiyami).

Le imixube zilandelayo monotherapy - yemvelaphi ye valproic acid (isiraphu "Konvuleks", "Konvulsofin", njl ...) - kakhulu ngempumelelo ukungabikho Nedlac kunye myoclonus, kwaye barbituric acid ( "Phenobarbital") ezisetyenziswa unditsho jikelele nge wayevuma nesimo sangoku. Phela, kule meko, yaye wathi ukusebenza eliphezulu bromides.

Ukuba kuyimfuneko, sebenzisa indibaniselwano iziyobisi. Eyona isebenzayo kubo indibanisela valproate kunye lithetha "topiramate".