Uyazazi yini izifo zeSandhoff? Ake sixoxe ngalesi simo esingavamile!

Wake wezwa ngesifo esingajwayelekile nesingavamile? Ngezinye izikhathi izingane zizalwa ziphilile, kodwa ngemva kwezinyanga ezimbalwa, zithola izinguquko ezithile ekukhuleni kwazo. Namuhla sizokhuluma ngesifo esisodwa esingavamile kodwa esibi kakhulu esibizwa ngokuthi isifo sikaSandhoff . Leli gama lingase libe lisha kuwe. Kodwa kubaluleke kakhulu ukwazi ngaso, ikakhulukazi uma othile emindenini yethu enalesi simo.

Iyini i-Sandhoff Disease?

Kalula nje, isifo iSandhoff siyisifo esingavamile esibangela ufuzo esibhubhisa amangqamuzana ezinzwa ebuchosheni bethu nasemgogodleni . Sivame ukuvela ebuntwaneni. Okusho ukuthi, umntwana uqala ukukhombisa izimpawu ezinyangeni ezimbalwa zokuzalwa. Kodwa-ke, akuvamile kakhulu, lesi sifo singavela ebuntwaneni noma ebudaleni.

Lokhu, uma kukhulunywa ngokuqondile, 'kuyisifo sokugcina i-lysosomal '. Manje ungase uzibuze ukuthi ziyini lezi zi-lysosome. Cabanga ukuthi iseli ngalinye emzimbeni wethu linesikhungo esincane 'sokulawula udoti' ngaphakathi kwaso. Sibiza lezi ngokuthi 'izi-lysosome' . Ngaphakathi kwalezi zi-lysosome kunezinhlobo eziningi zama-enzyme. Umsebenzi walezi zi-enzyme ukuphula, ukugaya, nokuhlanza izinhlobo ezahlukene zama-molecule angena esitokisini.

Abantu abanesifo iSandhoff abakhiqizi ngokwanele i-enzyme ekhethekile ebizwa ngokuthi i-beta-hexosaminidase . Ngaphandle kwale enzyme, izinhlobo ezithile zamafutha, ezibizwa ngokuthi ama-lipid , ziqala ukuqongelela ngaphakathi kwamaseli. Kufana nodoti ongenakususwa. Uma la mafutha eqongelela kakhulu, alimaza ubuchopho nezinye izinhlelo zomzimba. Ngeshwa, lesi simo sivame ukuholela ekufeni besebancane.

Isifo sikaSandhoff saziwa nangokuthi uhlobo olubi lwesifo sikaTay-Sachs, esinye isifo se-lysosomal.

Isifo sikaSandhoff singavamile kangakanani?

Lesi yisifo esingavamile kakhulu . Kuthiwa umuntu oyedwa kuphela kwabayisigidi aba nalesi sifo. Ngakho akumangazi ukuthi bengingakaze ngizwe ngaso.

Ubani osengozini enkulu yokuthola lesi sifo?

Ngenxa yokuthi isifo sikaSandhoff siyisifo esibangelwa ufuzo, uma othile emndenini wakho enalesi sifo, usengozini enkulu yokuthola lesi sifo . Futhi, lesi sifo sivame kakhulu ezinhlotsheni ezithile zohlanga. Lokhu kufaka phakathi:

• Abantu bamaJuda base-Ashkenazi
• Abantu baseCreole basenyakatho ye-Argentina
• Abantu baseMpumalanga Yurophu
• Abantu baseLebhanoni
• AmaNdiya aseMetis eSaskatchewan, eCanada

Lokhu kusho ukuthi uma uhlu lwakho lozalo lunokuxhumana nala maqembu, kungaba khona ingozi encane. Kodwa khumbula, lokhu akuvamile kakhulu.

Iyini imbangela yalokhu?

Yini ebangela isifo sikaSandhoff?Kubangelwa ukuguquka kwezakhi zofuzo okuthiwa i-HEXB. Izakhi zofuzo ziyincwadi encane nje egcina ulwazi emzimbeni wethu. Uma kukhona iphutha, noma ukuguquka kwezakhi zofuzo, kulesi sakhi sofuzo se-HEXB, umzimba awukwazi ukukhiqiza i-enzyme eyanele i-beta-hexosaminidase. Ngaphandle kwale enzyme, umzimba awukwazi ukuphula izinhlobo ezithile zamafutha. Khona-ke lawo mafutha aqoqana abe amazinga anobuthi, ikakhulukazi emangqamuzaneni ezinzwa zobuchopho kanye nomgogodla.

Ziyini izimpawu zalesi sifo?

Uhlobo oluvame kakhulu lwesifo seSandhoff lubonakala ezinganeni . Zibonakala ziphilile lapho zizalwa, kodwa ziqala ukukhombisa izimpawu phakathi kwezinyanga ezi-3 nezi-6 ubudala . Lezi zimpawu zifaka:

• Ukukhubazeka kokukhula kwamathambo : Isimo lapho amathambo engakhuli kahle.
• Ukunyakaza okungajwayelekile : Uma ushukumisa izitho zakho noma uzama ukuhamba, izinto zenzeka ngendlela engavamile kakhulu futhi engaguquki.
• Amabala "abomvu njengetsheri" emehlweni : Uma ubheka ngaphakathi kweso, ungabona ibala elibomvu elifana nombala wetsheri. Lesi yisici esiyingqayizivele salesi sifo.
• Ukukhula kwekhanda (i-macrocephaly) noma ukwandiswa kwezitho zangaphakathi (i-organomegaly) : Izitho zomzimba, ikakhulukazi isibindi kanye ne-spleen, zingaba zinkulu kunokujwayelekile.
• Impendulo yokwethuka : Umntwana uqala futhi aqhaqhazele ngisho noma ngabe kunomsindo omncane kangakanani.
• Izifo zokuphefumula ezivame ukwenzeka : Lokhu kusho ukuthi izifo ezihlobene namaphaphu zenzeka njalo.
• Ukuthuthukiswa kwamakhono okunyakaza okulibazisekile : Izinto ezifana nokukhasa, ukuhlala, nokugingqika zenzeka kamuva kunezinye izingane.
• Ubuthakathaka bemisipha, ubunzima bokulawula imisipha (i-ataxia) noma ukugxumagxuma kwemisipha (i-myoclonus) : Umuzwa wobuthakathaka, ukulahlekelwa ibhalansi, futhi ngezinye izikhathi ukushukuma kwemisipha.

Uma isifo sikaSandhoff siba sibi kakhulu, izingane zivame ukubhekana nalokhu okulandelayo:

• Ukulahlekelwa ukuzwa
• Ukukhubazeka kwengqondo
• Ukukhubazeka
• Isifo sokuwa ( ukuwa )
• Ukulahlekelwa umbono
• Ngeshwa, ukufa usemncane .

Akuvamile kakhulu ukuthi abanye abantu bangaba nesifo iSandhoff ebuntwaneni noma ebudaleni. Izimpawu ziyafana, kodwa ngokuvamile azibi kakhulu njengasezinsaneni.

Lesi sifo sitholakala kanjani?

Odokotela baxilonga isifo sikaSandhoff ngokucabangela lezi zinto ezilandelayo:

• Ukubukeza izimpawu nokuthi zaqala nini : Kufanele uxoxe ngokuningiliziwe nodokotela lapho uqala ukubona izinguquko enganeni yakho nokuthi ziyini lezo zimpawu.
• Ukuxoxa ngomlando womndeni kanye nesizinda sobuzwe : Kubalulekile ukwazi ukuthi kukhona yini emndenini wakho onalezi zifo nokuthi uzalo lwakho luhlobene yini namaqembu obuzwe okukhulunywe ngawo ngenhla.
• Ukuhlolwa komzimba: Udokotela uhlola ingane.
• Ukuhlolwa kwegazi : Ukuhlolwa kwegazi kwenziwa ukuze kubonakale ukuthi i-enzyme ye-beta-hexosaminidase ayisebenzi kahle noma ayikho nhlobo.
• Ukuhlolwa kwezakhi zofuzo : Ukuhlolwa kwezakhi zofuzo kwenziwa ukuqinisekisa ukuthi kukhona yini ukuguqulwa kwezakhi zofuzo ze-HEXB.

Yiziphi izindlela zokwelapha?

Ngeshwa, ayikho ikhambi lesifo iSandhoff . Izindlela zokwelapha zamanje zigxile ekunciphiseni izimpawu nokusiza iziguli ukuthi zikhululeke ngangokunokwenzeka. Lokhu kungafaka:

• Imithi yokulwa nokuxhuzula ilawula ukuxhuzula kwesithuthwane.
• Ukunikeza ukudla okunempilo .
• Ukugcina umswakama ofanele emzimbeni.
• Ukusiza ukugcina indlela yokuphefumula ivulekile (kunciphisa ubunzima bokuphefumula).

Nakuba kungekho ikhambi elihlala njalo lalesi sifo, odokotela nabacwaningi bahlala befuna izindlela ezintsha zokwelapha. Lelo ithemba elikhulu.

Kunezindlela zokwelapha eziningana ezisaphenywa njengamanje futhi ezingasiza esikhathini esizayo:

• Ukufakelwa umnkantsha wamathambo
• Ukwelashwa nge-gene : Lokhu kuzama ukulungisa i-gene enephutha.
• Ukwelashwa kokunciphisa i-substrate : Lokhu kuhilela ukushintsha ama-molecule ahilelekile enkambisweni yesifo nokuzama ukuvimba ukuqhubeka kwalesi sifo.
• Ukwelashwa ngamaseli e-stem

Kubaluleke kakhulu ukuthi imindeni ethintekile yisifo iSandhoff ikhulume nososayensi bezofuzo noma abeluleki bezofuzo . Bangasiza ekunqumeni ukuthi ngabe kukhona yini omunye emndenini okufanele ahlolwe lezi zinguquko zofuzo.

Liyini ikusasa labantu abanalesi sifo?

Uma ngikhuluma iqiniso, ikusasa labantu abanesifo iSandhoff alithembisi kangako, futhi isikhathi sokuphila sifushane . Lapho izingane zithola lesi sifo, isimo sazo siba sibi kakhulu futhi ziyafa zineminyaka emi-3 noma emi-4 ubudala. Ngokuvamile, kungenxa yezinkinga ezibangelwa izifo zokuphefumula. Ngiyazi ukuthi lokhu kuyadabukisa ukuzwa.

Singakwazi yini ukuvimbela lesi sifo?

Ngeshwa, ayikho indlela yokuvimbela isifo sikaSandhoff ngoba siwufuzo. Kodwa-ke, izazi zezakhi zofuzo kanye nabeluleki bezakhi zofuzo bangakusiza ukuthi ubone ukuthi othile emndenini wakho usengozini yokuthola lesi sifo. Lolo lwazi lungaba usizo, isibonelo, lapho unquma ukuthi uzoba nezingane yini.

Uma ingane yami inesifo sikaSandhoff, yini okufanele ngiyibuze odokotela?

Uma ingane yakho itholakale inesifo iSandhoff, ungabuza odokotela imibuzo efana nale:

• Hlobo luni lokukhubazeka esingalulindela?
• Isikhathi sokuphila kwengane yethuKuzoba malini?
• Hlobo luni lochwepheshe okufanele sibabone? Kufanele sibabone kangaki?
• Ngingayigcina kanjani ingane yami ikhululekile ?
• Ingabe amanye amalungu omndeni nawo kufanele ahlolwe izakhi zofuzo ?

Iyiphi indlela engcono kakhulu yokubhekana nesifo sikaSandhoff?

Kunezinto eziningana ezingakusiza wena nomndeni wakho ukuba nibhekane nalesi simo esinzima:

• Ukwelulekwa : Ukwelulekwa kuzokusiza uhlale uqinile engqondweni futhi ubhekane nalolu sizi.
• Ukuxhumana nezinhlangano ezisekela iziguli kanye nocwaningo.
• Amaqembu okusekelana : La maqembu awusizo kakhulu ekukhulumeni nabanye abazali ababhekene nesimo esifanayo nesakho kanye nokwabelana ngolwazi.

Isifo iSandhoff siwuguquko olungavamile lwezakhi zofuzo olubangela ukuba amafutha akheke abe ngamazinga anobuthi emangqamuzaneni ezinzwa ebuchosheni nasemgogodleni. Izingane ezithintekile ziba nezimpawu ezinzima futhi zife zisencane. Ucwaningo luyaqhubeka ukuze kuqondwe kabanzi ngesifo iSandhoff kanye nokwelashwa kwaso okungenzeka.

Umyalezo Wokugcina Wokuya Nasekhaya

Ngithemba ukuthi uthole ukuqonda okuthile kulokho esikuxoxile ngesifo iSandhoff. Izinto ezibaluleke kakhulu okufanele uzikhumbule yilezi:

• Lesi yisifo esingavamile kakhulu esibangelwa izakhi zofuzo .
• Lokhu kulimaza amangqamuzana ezinzwa , ikakhulukazi ebuntwaneni.
• Imbangela eyinhloko ukuntuleka kwe-enzyme i-beta-hexosaminidase .
• Akukho ukwelashwa okuhlala njalo okwamanje, kodwa kunezindlela zokwelapha zokulawula izimpawu nokunikeza induduzo.
• Ucwaningo luyenzeka olungasinika ithemba ngekusasa.
• Uma othile emndenini wakho enale ngozi, kubaluleke kakhulu ukuthola ukwelulekwa ngofuzo .
• Esimweni esinjengalesi, ukuthola ukwesekwa kwengqondo kanye nezinsizakalo zokusekela kuzoba amandla amakhulu kuwe nomndeni wakho.

Uma lolu lwazi lube wusizo kuwe, kuhle lokho. Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela.

Isifo sikaSandhoff , isifo sikaSandhoff, izifo zofuzo, amangqamuzana ezinzwa, i-beta-hexosaminidase, isifo sokugcina i-lysosomal, izimpawu zombungu, ukuhlolwa kofuzo