Isifo Tay-Sachs. Isifo enqabileyo amafa

isifo Tay-Sachs - sisifo esizalwa, sibonakala luphuhliso olukhawulezayo kakhulu ezitshangubeni luvo central, kunye nengqondo yomntwana.

Isifo wachazwa kuqala zamehlo British Warren Tay kunye luvo American UBernard Sachs ngenkulungwane XIX. Ezi izazinzulu ezibalaseleyo abenze igalelo elikhulu ukuba isifundo esi sifo. isifo Tay-Sachs - isifo esinqabileyo. Athambekele kuqinisekisa ukuba iintlanga. Amaxesha amaninzi lo sifo ubunzima kubantu Quebec kunye Louisiana French e Canada, kwakunye amaYuda ahlala eMpuma Yurophu. Ngokubanzi, emisaveni izehlo lwesifo 1: 250.000.

Ezibangela isifo

isifo Tay-Sachs ihlasela abantu ilifa sofuzo njengesi evela kubazali bobabini. Kwimeko apho inaso esi isakhi enye kuphela ngabazali, umntwana agule. Kodwa ke, nayo, iba inaso esi sifo-50% yamatyala.

Phambi zofuzo basis of omzimba womntu Kumiswe imveliso yalo enzayim ethile - hexosaminidase A, nenoxanduva ukuqhekeka lipids ezimbaxa zendalo iiseli (gangliosides). Kuzuza ezi zingangeni umzimba akwenzeki. yokuzuza yazo ikhokelela ikwaxina yengqondo kunye nemithambo umonakalo cell. Oku kubangela isifo Tay-Sachs. Amafoto lwamatyala kunokubonwa kweli nqaku.

ekuxilongweni

Njengezinye isifo lale usana, esi sifo uxilongiwe kwibakala lokuqala. Ukuba abazali ukrokrela ukuba umntwana wabo ukubandezeleka ukusuka Tay-Sachs syndrome, ngoko ke kufuneka ubuze ngokungxamisekileyo ugqirha wamehlo. Ngapha koko, uphawu lokuqala lesi sifo kwabangcangcazelisayo a cherry-elibomvu eligqibeleleyo, nto leyo iqatshelwe ukufunda eli fundus umntwana. Spot kuvela ngenxa yokuba gangliosides sokuzuza iiseli semehlo.

Koko kwenziwe izifundo ezifana lokuhlolwa (uvavanyo lwegazi olubanzi) kunye nohlalutyo obungabonakaliyo ye-luvo. Ukuhlolelwa uvavanyo lubonisa ukuba imveliso iproteni kwenzeka Hexosaminidase uhlobo A. Uhlalutyo luvo ibonisa, ukuba kukho kuwo gangliosides.

Ukuba nabazali bazi kwangethuba ukuba abathwali yemfuza eziyingozi, kuyimfuneko ukuba bapase indlela yokuvavanya, esiqhutywa emva kweeveki ezingama-12 yokumitha. Kweso sifundo, igazi lathatyathwa ngumkhaya. UneNtsholongwane kuya kubonakala ukuba umntwana sele ilifa zofuzo mutated kubazali babo. Olu vavanyo kwakhona olwenziwe abafikisayo kunye nabantu abadala kunye ukubonakala iimpawu ezifanayo kunye ufuzo embi.

Uphuhliso sifo

ukubandezeleka osanda Tay-Sachs syndrome, ngaphandle kukhangeleka ngathi bonke abantwana, yaye kubonakala kakhulu usempilweni. Into kunesiqhelo, xa izifo enqabileyo loo nto ngokukhawuleza, yaye kwimeko sifo eso kuphela iinyanga ezintandathu. Ukuya kutsho kwiinyanga ezi-6, umntwana uziphethe ngendlela efanayo njengoko noontanga bakhe. Oko kakuhle ibamba intloko yakhe ezandleni zakhe izinto, ipapasha ezinye izandi ukuba ukuqala yokukhasa.

Ekubeni gangliosides iiseli azinikezelwanga Uzityhobozile, bandisa inani elaneleyo ukuqinisekisa ukuba usana ezilahlekileyo bafumana izakhono. Umntwana modem abantu ngeenxa zonke kubo, amehlo akhe ngqo kwi ndawo enye, kukho bengenamdla. Emva kwexesha elithile iphuhlisa ziimfama. Kamva, ubuso umntwana uba ngathi nopopi. Ngokuqhelekileyo, abantwana kunye nezifo ezinqabileyo athe anxulunyaniswa ukukhubazeka engqondweni, musa xesha lide. Kwimeko Tay-Sachs umntwana uba ukhubazekile kwaye ayidli ngokuphila ngaphaya kweminyaka emi-5.

Iimpawu izifo kwiintsana:

• Kwiinyanga 3-6 umntwana eqalisa ukuba balahlekelwe ukunxibelelana nehlabathi ngaphandle. Oku kubonakala yokuba akazange ukubona abantu obathandayo, ikwazile ukuphendula kuphela iingxolo elikhulu, asinakho ukuqwalasela kwisifundo umbono, ukudideka iliso, umbono kuguga kamva.
• Kwiinyanga ezili-10 umsebenzi umntwana kunciphisa. Yenze kube nzima ukuba afudukele (bahlale, ukhase, kunyaka). Umbono nokuva buthelezi kukhulise bengenamdla. Ngamana ukunyusa ubungakanani intloko (macrocephaly).
• Emva kweenyanga ezili-12, esi sifo ikhula. Uba ukukhubazeka engqondweni ebonakala umntwana, ngokukhawuleza uqala ukuphulukana nokuva, umbono, kwemisipha sibi, nzima ukuphefumla, kuvela ukugula.
• Maxa kweenyanga ezili-18, umntwana ngokupheleleyo anqunyulwe yokuva nokubona, kukho unditsho, iintshukumo yiSpasticity, ukukhubazeka ngokubanzi. Abafundi musa modem ukukhanya landiswe. Ukuba ngqongqo Further decerebrate iphuhlise ngenxa yomonakalo engqondweni.
• Emva kweenyanga ezingama-24, umntwana unesifo bronchopneumonia yaye ngokufuthi abasweleka phambi kokuba bafike kwiminyaka 5. Ukuba umfundi uyakwazi ukuphila ixesha elide, ikhulela unciphiso disorder uzinzo kumaqela ahlukeneyo izihlunu (Ataxia) kunye motor linyuke yeyiphi inkqubela phakathi kweminyaka emi-2 no-8.

isifo Tay-Sachs kunye nezinye iintlobo thaca.

ukusilela yamacala hexosaminidase A

Olu hlobo esi sifo uqalisa ukuzibonakalisa abantwana abaneminyaka emi-2 ukuya kwemi-5. Ukuphuhlisa izifo kancinci ngaphezu kwiintsana. Ngoko ke, iimpawu zesi sifo zamafa ayibonakali ngoko nangoko. Kukho utshintsho kwimo, ukungakhululeki intshukumo. Andifuni ngokukodwa arhola ingqalelo abadala.

Okulandelayo, kulandelayo kwenzeka:

• kukho buthathaka kwezihlunu;
• zesifo amancinci;
• intetho slurred kuchasene neenkqubo iingcamango.

Isifo kule ubudala kukhokelela nokukhubazeka. Umntwana uyafa phambi kweminyaka 15-16.

Amovroticheskaya idiocy abalulutsha

Isifo siqala ukuba ihambe kakuhle kangakanani na kwiminyaka 6-14. It has a flow buthathaka, kodwa ekugqibeleni iba yimfama lokugula, sengqondo esixhalabisayo, buthathaka kwezihlunu, ukushwabana imilenze kunokwenzeka. Emva abaphila nesi sifo, nokuba kwiminyaka embalwa, abantwana kufa kwimo engqondweni.

Ifom njalo hexosaminidase intswelo

Ngokuqhelekileyo kubonakala abantu abaye baphila iminyaka engama-30. Isifo kule fomu yikhosi kade kwaye ngokuqhelekileyo unomoya. Kukho utshintsho kwimo, intetho slurred, ukungakhululeki, ukuncipha nobukrelekrele, ukungaqheleki zokuziphatha, buthathaka kwezihlunu, ukuxhuzula. Tay-Sachs syndrome ngendlela ezigulo ezondeleyo iye yavulwa ngokwentelekiso kutshanje, kunye noqikelelo kwixesha elizayo musa babonakala kunokwenzeka. Kodwa ke kucacile ukuba isifo Ngokungathabuzekiyo kukhokelela nokukhubazeka.

Unyango lwesifo Tay-Sachs

Esi sifo, kwakunye onke amagunya idiocy akuthethi noko ukuba amayeza. Izigulana on therapy ulondolozo kunye nokhathalelo lokonga. Ngokuqhelekileyo, iziyobisi ezibekwa nxamnye amahlaba, musa isicelo. Ekubeni abantwana akukho reflex ligwinya kwaye zisoloko ukubondla kumbhobho. Le omzimba womntwana lokugula buthathaka kakhulu, ngoko ke kufuneka uhlonele intsebenziswano morbidities. Ngokuqhelekileyo, abantwana sibulawa ngenxa igciwane lohlobo.

Uthintelo esi sifo uphando lezibini, lujoliswe ekubhaqeni zofuzo ezilawula imfuza oluphawula isifo Tay-Sachs. Ukuba ikhona, kufuneka kucetyiswa ukuba ukuzama ukuba babe nabantwana.

Ukuba umntwana wakho uyagula

Xa emzini kuyimfuneko ukuba ufunde ukwenza indlela yokukhupha amanzi postural kunye mgomo nasogastric. Yalusani usana kumbhobho kufuneka kwakhona ukuqinisekisa ukuba ulusu khange abonakale bedsores.

Ukuba une nabanye abantwana abasempilweni, ngoko ke kufuneka ukuba uzijonge ubukho sofuzo njengesi.