Tay-Sachs isifo. A ezingavamile esiwufuzo

Tay-Sachs isifo - isifo luthathwe, libhekene ukuthuthukiswa ngokushesha kakhulu sezinzwa uhlelo izilonda, kanye nobuchopho wengane.

Lesi sifo kwase kuqala esachazwa ophthalmologist British Warren Tay futhi wezinzwa saseMelika uBernard Sachs ekhulwini XIX. Lezi ososayensi abavelele abaye wenza banikela ngendlela ebalulekile isifundo lesi sifo. Tay-Sachs isifo - iyisifo ezingavamile. Beyizidlova ezithile namaqembu ezinhlanga. Ngokuvamile lesi sifo ahlupheke labantu Quebec kanye Louisiana French e-Canada, kanye amaJuda ayehlala eMpumalanga Yurophu. Ngokuvamile, emhlabeni nokudlondlobala isifo 1: 250.000.

Izimbangela zesifo

Tay-Sachs isifo kwenzeka abantu abadla ifa isakhi sofuzo asabekayo kusuka bobabili abazali. Esimweni lapho othwala isakhi sofuzo ingenye kuphela usizi olungapheli kubazali, ingane ingase agule. Kodwa, esikhundleni salokho, uba othwala sifo 50% amacala.

Ephambi kwezinduna isakhi sofuzo sokulungisa emzimbeni womuntu Kumiswe ukukhiqizwa yayo enzyme ethize - hexosaminidase A, okuyinto unomthwalo wokuqhekeka lipids zemvelo eziyinkimbinkimbi kumaseli (gangliosides). Thola lezi zinto kusukela umzimba akunakwenzeka. ekuqongeleleni yabo kuholela ukuvimba umonakalo ebuchosheni futhi izinzwa cell. Lokhu kubangela Tay-Sachs isifo. Izithombe amacala kungabonakala kulesi sihloko.

ukuhlola

Njengezinye esiwufuzo ngayo lapho usana, lesi sifo kungaba ihlonzwe ngendlela efanele usaqala. Nengabe ababelethi basola bona umntwana wabo uhlushwa Tay-Sachs syndrome ke udinga ngokushesha uthintane uchwepheshe iso. Phela, kuqubuka yilesi sifo esesabekayo kuyinto indawo cherry-bomvu, okuyinto okubonakale ekutadisheni lo fundus ingane. Spot uphakanyiswa gangliosides sokuzuza amaseli ngwengwzi.

Khona-ke kwenziwe ucwaningo ezifana isivivinyo Ukuhlolwa (i kwegazi ebanzi) kanye nokuhlaziywa ezincane we izinzwa. Screening ukuhlolwa kubonisa ukuthi ukukhiqizwa amaprotheni kwenzeka Hexosaminidase uhlobo A. Ukuhlaziywa izinzwa lembula, uma ekhona gangliosides.

Uma abazali ukwazi kusengaphambili ukuthi kukhona abathwali zezakhi zofuzo eziyingozi, futhi kuyadingeka ukuba baphumelele isivivinyo Ukuhlolwa, esiqhutshwa uma sebehlanganisa amasonto angu-12 esesibelethweni. Ocwaningweni, igazi lathathwa placenta. Umphumela test kuyoba sobala ukuthi ufuzo lwengane izakhi zofuzo soguquko lwegciwane singalawuleka kubazali babo. Lokhu test nalo iqhutshwe intsha kanye nabantu abadala kanye ukubukeka nezimpawu ezifanayo kanye ufuzo ezimbi.

Ukuthuthukiswa lesi sifo

ukuhlupheka Newborn kusukela Tay-Sachs syndrome, nibonakala kubonakala sengathi zonke izingane, futhi kubonakala ngempela enempilo. Into evamile, lapho izifo ezingavamile ezinjalo azibona ngokushesha, futhi esimweni isifo okukhulunywa kuphela izinyanga eziyisithupha. Kufika 6 izinyanga, ingane eziphatha ngendlela efanayo njengoba ontanga yakhe. Lokho kahle kunesithembiso ikhanda lakhe ezandleni zakhe izinto, ishicilela ezinye imisindo kungenzeka ukuqala ukukhasa.

Njengoba gangliosides kumaseli kungukuthi zehlukaniswe, bandisa inombolo ezanele ukuqinisekisa ukuthi ingane elahlekile bafunda amakhono. Ingane akasabeli kubantu ababezizungezile, amehlo akhe sibhekiswe iphuzu elilodwa, kukhona nokunganaki. Ngemva kwenkathi ethile yesikhathi eba ngobumpumputhe. Kamuva, ubuso wengane uba njengamazwi unodoli. Ngokuvamile, izingane izifo ezingavamile okuhlotshaniswa retardation engqondo, ayihlali isikhathi eside. Endabeni Tay-Sachs ingane iba ekhubazekile futhi kuyaqabukela ukusinda okungaphezu kweminyaka 5.

Izimpawu ezinsaneni isifo:

• Ezinyangeni 3-6 ingane iqala ukulahlekelwa ukuxhumana nezwe ngaphandle. Lokhu kubonakala eqinisweni lokuthi akazange aqaphele abathandekayo, ukwazi usabela kuphela imisindo elikhulu, awakwazi ukugxila isihloko umbono, iso Twitch, umbono liwohloka kamuva.
• Ezinyangeni 10 yomsebenzi ingane incipha. Kuba nzima ukuhambisa (ukuze ahlale, ukukhasa, phenduka). Vision nokuzwa imizwa eba nokunganaki. Kwangathi ukwandisa ubukhulu ikhanda (macrocephaly).
• Emva kwezinyanga ezingu 12, lesi sifo buthola umfutho. Uba retardation sobala nangokwengqondo wengane, washeshe iqala ukulahlekelwa ukuzwa, umbono, ukunyakaza kwemisipha sibhebhetheka, nobunzima bokuphefumula, avele nokuquleka.
• Ngezinye izinyanga ezingu-18, ingane engalali ngokuphelele asizwe futhi umbono, kukhona Ukudlikizela, ukunyakaza spastic, ukukhubazeka generalized. Abafundi ungathathi ngamawala ukuze ukukhanya futhi lanwetshwa. Ngaphezu kwalokho rigidity decerebrate eba ngenxa ukulimala kobuchopho.
• Emva kwezinyanga ezingu-24, ingane ehlupheka bronchopneumonia futhi zijwayele ukufa ngaphambi kokuba afinyelele eminyakeni 5. Uma ingane iyakwazi ukuba baphile isikhathi eside, ikhulela ukungaguquguquki disorder ukwehliselwa ngamaqembu ahlukene imisipha (ataxia) futhi ekunqandeni motor okuyinto iqhubeka ephakathi kwengu-2 no-8.

Tay-Sachs isifo nezinye izinhlobo ethulwa.

ukuhluleka Juvenile hexosaminidase A

Le ndlela lesi sifo iqala ukuzibonakalisa ezinganeni ezineminyaka engu-2 kuya ku-5. Thuthukisa isifo kancane kunalokho in izinsana. Ngakho-ke, izimpawu zalesi esiwufuzo akuyona ngokushesha ebonakalayo. Kukhona ukushintshashintsha kwemizwelo, amehlo khona ukungakhululeki okuthile ukunyakaza ngokukhululekile. Akufani ikakhulukazi wadonsela ukunaka abantu abadala.

Ngokulandelayo, lokhu okulandelayo kwenzeka:

• kukhona buthakathaka kwezicubu;
• ukuquleka elincane;
• inkulumo egwinya kanye nokwephula izinqubo umcabango.

Lesi sifo ngalesi yobudala futhi kuholela ukukhubazeka. Ingane efa ngaphambi eminyakeni 15-16.

Amovroticheskaya idiocy bobusha

Lesi sifo iqala ukuba bathuthuke eminyakeni 6-14. It has a ukugeleza ebuthakathaka, kodwa ekugcineni uthola ubumpumputhe ogulayo, ukuwohloka, ukuba buthakathaka kwezicubu, ukukhubazeka okungenzeka nasemilenzeni. Ngemva kokuphila nalesi sifo, ngisho eminyakeni embalwa, izingane zifa isimo ukungaphili engqondweni.

Ifomu njalo hexosaminidase ukuntula

Ngokuvamile livela abantu abaningi abake baphila iminyaka engu-30. Lesi sifo kuleli fomu luyisifundo kancane futhi ngokuvamile kuba mnene. Kukhona ukushintshashintsha kwemizwelo, amehlo inkulumo egwinya, ukungakhululeki okuthile, kwehle ukukhalipha, kwezinso zokuziphatha, ukuba buthakathaka kwezicubu, nokuquleka. Tay-Sachs syndrome efomini ezingamahlalakhona uvulekele esanda kutholakala, futhi izibikezelo esizayo awubonakali kungenzeka. Kodwa kuyacaca ukuthi lesi sifo nakanjani bungaholela ekukhubazekeni.

Ukwelashwa nokuvikelwa Tay-Sachs isifo

Lesi sifo, kanye wonke amandla idiocy akusho okwamanje engakusiza. Iziguli yokwelapha ukugcinwa kanye ukunakekelwa. Ngokuvamile, izidakamizwa ukuthi kuyabekwa ngokumelene amajaqamba, azisebenzi. Njengoba izingane azikho reflex ukugwinya futhi ngokuvamile babe ukuwondla ngepayipi. I amasosha omzimba ingane egulayo ibuthakathaka kakhulu, ngakho kufanele aphathe co-morbidities. Ngokuvamile, izingane ababulawa ngenxa igciwane lohlobo.

Ukuvimbela lesi sifo kuyinto Ukuhlola okwenziwa emibhangqwaneni engu, zihlose ukuthola izakhi zofuzo okuqondiswa sofuzo ephawula isifo Tay-Sachs. Uma ikhona, kufanele Kunconywa ukuba azame ukuba babe nezingane.

Uma ingane yakho iyagula

Lapho ukunakekelwa ekhaya kuyadingeka ukuze ufunde indlela yokukwenza amanzi postural futhi nokufuna kugunyazwe ugqozi nasogastric. Okuphakelayo ingane ngepayipi babe futhi ukuze uqinisekise ukuthi isikhumba awavelanga bedsores.

Uma unezinye izingane enempilo ke udinga ukuze awahlole ngokuba khona isakhi sofuzo asabekayo.