Ngaba uyayazi iSandhoff Disease? Makhe sithethe ngale meko ingaqhelekanga!

Ngaba wakha weva ngesifo esingaqhelekanga nesingaqhelekanga? Ngamanye amaxesha iintsana zizalwa ziphilile, kodwa emva kweenyanga ezimbalwa, zenze utshintsho oluthile ekukhuleni kwazo. Namhlanje siza kuthetha ngesifo esingaqhelekanga kodwa esibi kakhulu semfuza esibizwa ngokuba sisifo sikaSandhoff . Eli gama lisenokuba litsha kuwe. Kodwa kubaluleke kakhulu ukwazi ngaso, ingakumbi ukuba kukho umntu kwiintsapho zethu onale meko.

Yintoni isifo sikaSandhoff?

Ngamafutshane, isifo sikaSandhoff sisifo esingaqhelekanga semfuza esitshabalalisa iiseli zemithambo-luvo engqondweni yethu nakwintambo yomqolo . Sidla ngokubonakala ebuntwaneni. Oko kukuthi, umntwana uqala ukubonisa iimpawu kwiinyanga ezimbalwa emva kokuzalwa. Nangona kunjalo, kunqabile kakhulu, esi sifo sinokuvela ebuntwaneni okanye ebudaleni.

Oku, ukuba kuthe ngqo, 'yingxaki yokugcina i-lysosomal '. Ngoku usenokuba uzibuza ukuba zeziphi ezi lysosomes. Khawuthelekelele ukuba iseli nganye emzimbeni wethu ine-'ziko lokulawula inkunkuma' elincinci ngaphakathi kuyo. Sizibiza ngokuba zii -'lysosomes' . Ngaphakathi kwezi lysosomes kukho iintlobo ezininzi zee-enzymes. Umsebenzi wezi enzymes kukuqhekeza, ukugaya, kunye nokucoca iintlobo ezahlukeneyo zeemolekyuli ezingena kwiseli.

Abantu abanesifo seSandhoff abavelisi ngokwaneleyo i-enzyme ekhethekileyo ebizwa ngokuba yi -beta-hexosaminidase . Ngaphandle kwale enzyme, iintlobo ezithile zamafutha, ezibizwa ngokuba yi -lipids , ziqala ukuqokelelana ngaphakathi kweeseli. Kufana nenkunkuma engenakususwa. Xa la mafutha eqokelelana kakhulu, yonakalisa ingqondo kunye nezinye iinkqubo zomzimba. Ngelishwa, le meko idla ngokukhokelela ekufeni besebancinci.

Isifo sikaSandhoff sikwabizwa ngokuba sisifo esibi kakhulu seTay-Sachs, esinye isifo se-lysosomal.

Isifo sikaSandhoff sinqabile kangakanani?

Esi sisifo esingaqhelekanga . Kuthiwa ngumntu omnye kuphela kwisigidi esifumana esi sifo. Ngoko ke akumangalisi ukuba bendingazange ndive ngaso.

Ngubani osengozini enkulu yokuhlaselwa sesi sifo?

Ngenxa yokuba isifo sikaSandhoff sisifo esibangelwa lufuzo, ukuba umntu kusapho lwakho unesi sifo, usengozini enkulu yokuhlaselwa sesi sifo . Kwakhona, esi sifo sixhaphake kakhulu kumaqela athile eentlanga. Ezi ziquka:

• AmaJuda aseAshkenazi
• Abantu baseCreole basemantla eArgentina
• Abantu baseMpuma Yurophu
• Abantu baseLebhanon
• AmaNdiya aseMetis eSaskatchewan, eKhanada

Oku kuthetha ukuba ukuba umnombo wakho unxulumene nala maqela, kunokubakho umngcipheko omncinci. Kodwa khumbula, oku kunqabile kakhulu.

Yintoni isizathu soku?

Yintoni ebangela isifo sikaSandhoff?Ibangelwa kukuguquka kwezakhi zofuzo ekuthiwa yiHEXB. Izakhi zofuzo yincwadi nje encinci egcina ulwazi emzimbeni wethu. Xa kukho isiphene, okanye utshintsho, kule zakhi zofuzo zeHEXB, umzimba awukwazi ukuvelisa ngokwaneleyo i-enzyme beta-hexosaminidase. Ngaphandle kwale enzyme, umzimba awukwazi ukuqhekeza iintlobo ezithile zamafutha. Emva koko loo mafutha aqokelelana ukuya kumanqanaba anetyhefu, ngakumbi kwiiseli zemithambo-luvo yobuchopho kunye nomqolo.

Zithini iimpawu zesi sifo?

Uhlobo oluqhelekileyo lwesifo seSandhoff lubonakala kwiintsana . Zibonakala ziphilile xa zizalwa, kodwa ziqala ukubonisa iimpawu phakathi kweenyanga ezi-3 ukuya kwezi-6 ubudala . Ezi mpawu ziquka:

• Ukuphazamiseka kokukhula kwamathambo : Imeko apho amathambo angakhuli kakuhle.
• Iintshukumo ezingaqhelekanga : Xa ushukumisa amalungu akho okanye uzama ukuhamba, izinto zenzeka ngendlela engaqhelekanga nengaguquguqukiyo.
• Amabala "abomvu njengetsheri" emehlweni : Xa ujonga ngaphakathi kweliso, ungabona ibala elibomvu elifana nombala wetsheri. Olu luphawu olubonakalayo lwesi sifo.
• Ukwanda kwentloko (i-macrocephaly) okanye ukwanda kwamalungu angaphakathi (i-organomegaly) : Amalungu, ingakumbi isibindi kunye ne-spleen, anokuba makhulu kunesiqhelo.
• Impendulo yokothuka : Usana luyaqala luze luqhaqhazele nokuba kuvakala isandi esincinci.
• Izifo zokuphefumla ezixhaphakileyo : Oku kuthetha ukuba izifo ezinxulumene nemiphunga ziyenzeka rhoqo.
• Ukulibaziseka kophuhliso lwezakhono zomzimba : Izinto ezinje ngokukhasa, ukuhlala, nokuqengqeleka zenzeka emva kwexesha kunabanye abantwana.
• Ubuthathaka bemisipha, ubunzima bokulawula izihlunu (ataxia) okanye ukuxhuzula kwemisipha (myoclonus) : Ukuziva ubuthathaka, ukulahlekelwa yibhalansi, kwaye ngamanye amaxesha ukuxhuzula kwemisipha.

Xa isifo sikaSandhoff siba sibi kakhulu, iintsana zihlala zifumana oku kulandelayo:

• Ukulahlekelwa kukuva
• Ukukhubazeka kwengqondo
• Ukukhubazeka komzimba
• Isifo sokuwa ( ukuxhuzula )
• Ukulahleka kombono
• Ngelishwa, ukufa eselula .

Kunqabile kakhulu, abanye abantu banokuba nesifo sikaSandhoff ebuntwaneni okanye ebudaleni. Iimpawu ziyafana, kodwa azikho nzima njengakwiintsana.

Sifunyaniswa njani esi sifo?

Oogqirha baxilonga isifo sikaSandhoff ngokuqwalasela ezi zinto zilandelayo:

• Ukuphonononga iimpawu kunye nokuba ziqale nini : Kufuneka uxoxe ngokweenkcukacha nogqirha xa wawuqala ukuqaphela utshintsho kumntwana wakho kunye nezo mpawu.
• Ukuxoxa ngembali yosapho kunye nemvelaphi yobuhlanga : Kubalulekile ukwazi ukuba kukho umntu kusapho lwakho onale zifo na nokuba inzala yakho inxulumene nala maqela eentlanga akhankanyiweyo apha ngasentla.
• Uvavanyo lomzimba: Ugqirha uhlola umntwana.
• Uvavanyo lwegazi : Uvavanyo lwegazi lwenziwa ukuze kubonwe ukuba i-enzyme ye-beta-hexosaminidase ayinazo na okanye ayikho kwaphela.
• Uvavanyo lwemfuza : Uvavanyo lwemfuza lwenziwa ukuqinisekisa ukuba kukho utshintsho lwemfuza lwe-HEXB.

Zithini iindlela zonyango?

Ngelishwa, akukho nyango lwesifo sikaSandhoff . Unyango lwangoku lugxile ekunciphiseni iimpawu nokunceda izigulane zihlale zikhululekile kangangoko. Oku kungabandakanya:

• Ii-anticonvulsants zilawula ukuxhuzula okubangelwa kukuxhuzula.
• Ukubonelela ngesondlo esifanelekileyo .
• Ukugcina umswakama ofanelekileyo emzimbeni.
• Ukunceda ukugcina indlela yomoya ivulekile (kunciphisa ubunzima bokuphefumla).

Nangona kungekho nyango luhlala luhleli lwesi sifo, oogqirha nabaphandi bahlala bekhangela unyango olutsha. Elo lithemba elikhulu.

Kukho iindlela ezahlukeneyo zonyango eziphandwayo okwangoku kwaye zinokunceda kwixesha elizayo:

• Ukufakelwa komongo wethambo
• Unyango lwe-gene : Oku kuzama ukulungisa i-gene enesiphene.
• Unyango lokunciphisa i-substrate : Oku kubandakanya ukutshintsha iimolekyuli ezibandakanyekayo kwinkqubo yesifo kunye nokuzama ukunqanda ukuqhubela phambili kwesifo.
• Unyango lweeseli zesiqu

Kubaluleke kakhulu kwiintsapho ezichaphazelekileyo sisifo sikaSandhoff ukuthetha neengcali zemfuza okanye abacebisi ngemfuza . Banokunceda ekuthatheni isigqibo sokuba ngaba kukho nabani na kusapho ofanele avavanywe kwezi nguqu zemfuza.

Liyintoni ikamva labantu abanesi sifo?

Inyaniso kukuba, ikamva labantu abanesifo sikaSandhoff alithembisi kangako, kwaye ubomi obulindelekileyo bufutshane . Xa iintsana zifumana esi sifo, imeko yazo iba mandundu ngokukhawuleza kwaye ziyafa xa zineminyaka emi-3 okanye emi-4 ubudala. Ngokuqhelekileyo, kungenxa yeengxaki ezibangelwa zizifo zokuphefumla. Ndiyazi ukuba oku kuyadanisa ukuva.

Ngaba singasithintela esi sifo?

Ngelishwa, akukho ndlela yokuthintela isifo sikaSandhoff kuba sisifo semfuza. Nangona kunjalo, iingcali zemfuza kunye nabacebisi bemfuza banokukunceda ubone ukuba umntu kusapho lwakho usemngciphekweni wokufumana esi sifo. Olu lwazi lunokuba luncedo, umzekelo, xa ugqiba ekubeni uza kuba nabantwana na.

Ukuba umntwana wam unesifo sikaSandhoff, ndingababuza ntoni oogqirha?

Ukuba umntwana wakho ufunyaniswe enesifo sikaSandhoff, ungabuza oogqirha imibuzo efana nale:

• Luhlobo luni lokukhubazeka esinokululindela?
• Ubomi bomntwana wethuIza kuba yimalini?
• Ngabaphi abantu abangoochwephesha esifanele sibabone? Sifanele sibabone kangaphi?
• Ndingamgcina njani umntwana wam ekhululekile ?
• Ngaba namanye amalungu osapho kufuneka avavanywe ngokwemfuza ?

Yeyiphi indlela engcono yokujongana nesifo sikaSandhoff?

Kukho izinto ezininzi ezinokukunceda wena nosapho lwakho nikwazi ukumelana nale meko inzima:

• Ingcebiso : Ingcebiso iza kukunceda uhlale uqinile engqondweni kwaye uhlangabezane nale ntlungu.
• Ukunxibelelana nemibutho exhasa izigulane kunye nophando.
• Amaqela enkxaso : La maqela aluncedo kakhulu ekuthetheni nabanye abazali abajongene nemeko efanayo nawe nokwabelana ngamava.

Isifo sikaSandhoff sisifo esingaqhelekanga esibangela ukuba amafutha aqokeleleke abe ngamanqanaba anetyhefu kwiiseli zemithambo-luvo engqondweni nasemgogodleni. Abantwana abachaphazelekileyo babonakalisa iimpawu ezinzima baze bafe besebancinci. Uphando luyaqhubeka ukuze kuqondwe ngakumbi isifo sikaSandhoff kunye nonyango olunokubakho.

Umyalezo Wokugqibela Wokuya Ekhaya

Ndiyathemba ukuba ufumene ukuqonda okuthile kwinto esiyithethileyo ngesifo sikaSandhoff. Ezona zinto zibalulekileyo ekufuneka uzikhumbule zezi:

• Esi sisifo esingaqhelekanga kakhulu esibangelwa lufuzo .
• Oku kubangela umonakalo kwiiseli zemithambo-luvo , ingakumbi ebuntwaneni.
• Isizathu esiyintloko kukungabikho kwe-enzyme i-beta-hexosaminidase .
• Akukabikho unyango oluhlala luhleli okwangoku, kodwa kukho unyango lokulawula iimpawu nokubonelela ngentuthuzelo.
• Uphando luyenzeka olunokusinika ithemba ngekamva.
• Ukuba kukho umntu kusapho lwakho onale ngozi, kubaluleke kakhulu ukufumana ingcebiso ngemfuza .
• Kwimeko efana nale, ukufumana inkxaso yengqondo kunye neenkonzo zenkxaso kuya kuba namandla amakhulu kuwe nakusapho lwakho.

Ukuba olu lwazi lube luncedo kuwe, kulungile oko. Ukuba unemibuzo engaphezulu malunga noku, ungathandabuzi ukuthetha nogqirha.

Isifo sikaSandhoff , isifo sikaSandhoff, izifo zemfuza, iiseli zemithambo-luvo, i-beta-hexosaminidase, isifo sokugcina i-lysosomal, iimpawu zosana olungekazalwa, uvavanyo lwemfuza