Ngaba ukhathazekile ngamabala amhlophe omntwana wakho? Okanye ukhathazekile ngokuba umntwana wakho unesifo sokuxhuzula rhoqo? Isizathu sezi mpawu sisenokuba yimeko engaqhelekanga. Namhlanje siza kuthetha ngemeko engaqhelekanga kodwa elawulekayo. Le yi-tuberous sclerosis.
Ngamafutshane, yintoni isifo se-tuberous sclerosis?
I-Tuberous Sclerosis Complex (TSC) yimeko engaqhelekanga yemfuza ebangela ukuba iithumba ezingezizo umhlaza zikhule kwiindawo ezahlukeneyo zomzimba, ingakumbi kwizitho ezifana nengqondo, ulusu, izintso, intliziyo, kunye nemiphunga. Kubalulekile ukukhumbula ukuba lo asingomhlaza .
Indlela esi sifo esichaphazela ngayo umntu ngamnye iyahluka kakhulu. Abanye abantu baneempawu ezimbalwa kakhulu kwaye baphila ubomi obuqhelekileyo. Kodwa kwabanye abantu, le meko inokuba nzima ngakumbi. Ngenxa yoko, iingxaki ezinkulu zinokubakho.
Esi sifo sikhula kancinci kancinci ngokuhamba kwexesha. Nangona ezinye iimpawu zinokubonakala kwasekuqaleni, ezinye zingathatha iminyaka ukuba zibonakale. Kungoko ke, kubaluleke kakhulu ukuba umntu onesi sifo ahlale phantsi kweliso likagqirha ubomi bakhe bonke.
Ngubani ochaphazeleka kakhulu sesi sifo?
Esi sisifo sokuzalwa. Ngokuqhelekileyo, umntwana ufunyaniswa enaso esi sifo xa eneminyaka emalunga neenyanga ezisi-7 ubudala. Nangona kunjalo, kungathatha iminyaka ukuba esi sifo sifunyanwe kwabo baneempawu ezimbalwa. Nabani na angasifumana esi sifo, kungakhathaliseki ukuba sisini, luhlanga, okanye lunqulo. Kuqikelelwa ukuba malunga nesigidi sabantu kwihlabathi liphela banaso esi sifo.
Zithini iimpawu ze-tuberous sclerosis?
Iimpawu zihlala zixhomekeke kwisitho apho iqhuma likhona khona. Masizahlule ezi mpawu zibe ziindidi ezintathu eziphambili.
1. Iimpawu ezinxulumene nobuchopho
2. Iimpawu ezinxulumene nolusu
3. Iimpawu ezinxulumene namanye amalungu omzimba
1. Iimpawu ezinxulumene nobuchopho
Ezona zifo zixhaphakileyo kwesi sifo zikwingqondo. Nangona ezi zingengomhlaza, zinokuphazamisana nokusebenza kwengqondo.
- Ukuxhuzula: Olu lolona phawu luqhelekileyo noluyingozi. Kukho iintlobo ezahlukeneyo zokuxhuzula ezinokwenzeka.
- Iithumba zobuchopho: Iithumba (i-Subependymal giant cell astrocytoma - SEGA) zinokwenzeka kwiiventricle zobuchopho. Ukuba ezi ziba nkulu, ulwelo lunokuqokelelana engqondweni, nto leyo ebangela imeko ebizwa ngokuba yi-hydrocephalus.
- Ukulibaziseka kokukhula kunye nokukhubazeka kwengqondo: Asinguye wonke umntu onayo le nto, kodwa abanye abantwana banengxaki yokufunda kunye nokulibaziseka kokuthetha.
- Iingxaki zokuziphatha:Iimeko ezinje nge-autism spectrum disorder okanye i-attention deficit hyperactivity disorder (ADHD) zinokubakho kunye nesi sifo.
2. Iimpawu ezinxulumene nolusu
Esi sifo sidla ngokufunyaniswa kuqala ngeempawu zolusu. Malunga nama-90% abantu abanesifo baya kuba nesinye okanye ngaphezulu kwezi mpawu zilandelayo:
| Uphawu lolusu | Inkcazo |
|---|---|
| Amabala amagqabi othuthu | Amabala amhlophe eluswini ngenxa yokunqongophala kwe-melanin. La maxa wambi awabonakali ngokucacileyo kubantu abanesikhumba esikhanyayo. Akhanya phantsi kokukhanya okukhethekileyo kwe-ultraviolet (UV). |
| Iifibroma zobuso | Amaqhuqhuva amancinci abomvu avela ebusweni, ingakumbi emacaleni empumlo nasezidleleni. La maqhuqhuva anokukhula kunye aze abonakale njengeqhuqhuva elikhulu. |
| Amabala eShagreen | La ngamabala avela xa izicubu ezinemicu ziqokelelana phantsi kolusu, kwaye zijiyile kunesikhumba kwaye zibukeka njengexolo loorenji. Zihlala zibonakala emqolo ongezantsi. |
| Iifibroma zeenzipho zeminwe nezezinzwane | Amaqhuqhuva amancinci avela phantsi okanye ngaphantsi kwezinzipho ezandleni nasezinyaweni. La maqhuqhuva adla ngokuqala ukubonakala ngexesha lokufikisa. |
| Iimpawu zeConfetti | Amabala amhlophe amancinci kakhulu, afana namachaphaza. Afumana igama lawo kuba ajongeka njenge-confetti. |
3. Iimpawu ezinxulumene nezinye izitho zomzimba
- Iingxaki zezintso:Amatye ezintso okanye amaqhuqhuva angase avele kwizintso. Oku kunokubangela ukungasebenzi kakuhle kwezintso, iintlungu zomqolo okanye ze-pelvic, kunye negazi kumchamo. Amaxesha amaninzi, ukungasebenzi kakuhle kwezintso okanye umhlaza wezintso (i-renal cell carcinoma) kunokwenzeka.
- Iirhabdomyomas zentliziyo: Ezi zibonakala kakhulu kubantwana abancinci. Zihlala zincipha njengoko umntwana ekhula. Nangona kunjalo, ezinye iithumba ezinkulu zinokuthintela ukuhamba kwegazi ukuya entliziyweni.
- Iingxaki zamehlo: Nangona iithumba zinokwakheka kwi-retina yeliso, iingxaki zokubona azifumaneki rhoqo.
- Utshintsho emlonyeni: Ungaphawula izinto ezifana namaqhubu amancinci kwiintsini okanye ukuqhekeka kwe-enamel emazinyweni.
Yintoni ebangela i-tuberous sclerosis?
Ngamafutshane, oku kubangelwa lutshintsho (ukuguqulwa) kwiijini. Kukho iiproteni emzimbeni wethu ezilawula ukukhula nokwahlukana kweeseli. Kwesi sifo, kukho isiphene kwiijini eziziyalela ukuba zivelise ezi proteni (ezibizwa ngokuba ziijini ze-TSC1 okanye ze-TSC2). Emva koko iiseli zikhula ngokungalawulekiyo kwaye zenze amaqhuma.
Kukho iindlela ezimbini ezinokwenzeka ngayo esi siphene semfuza:
1. Ukungahambelani: Uninzi lwexesha (malunga nesibini kwisithathu), esi siphene semfuza siyinto entsha. Oko kukuthi, umama okanye utata abanaso esi sifo. Esi siphene semfuza senzeka ngengozi emva kokuba umntwana ekhulelwe.
2. Ilifa: Kwicala elinye kwisithathu lamatyala, umntwana ufumana esi sifo kumzali onesifo.
Indlela yokuxilonga esi sifo?
Ugqirha uxilonga esi sifo ngokuhlola iimpawu. Ezi mpawu zahlulwe zibe ziindidi ezimbini: "iimpawu eziphambili" kunye "neempawu ezincinci."
Ukuze kuqinisekiswe ngokuqinisekileyo ukuba sisifo, kufuneka kubekho iimpawu eziphambili ezimbini okanye ngaphezulu , okanye uphawu olukhulu olunye kunye neempawu ezincinci ezimbini okanye ngaphezulu .
Ngamanye amaxesha, ngenxa yokuba iimpawu zikhula ngokuhamba kwexesha, esi sifo ekuqaleni singachazwa njenge-"TSC enokwenzeka."
Ezinye zeendlela zovavanyo ezisetyenziswayo ukufumanisa esi sifo zezi:
- Kwingqondo: I-MRI okanye i-CT scan yobuchopho, uvavanyo lwe-EEG ukujonga ukuba akukho ukuxhuzula.
- Ulusu: Ukuhlolwa kolusu, ingakumbi uvavanyo lwesibane sikaWood ukuze kubonwe ngokucacileyo amabala amhlophe.
- Kwizintso: I-ultrasound yesisu okanye i-MRI scan.
- Kwintliziyo: I-Echocardiogram.
- Uvavanyo lwemfuza: Isampuli yegazi inokuqinisekisa ukuba kukho isiphene kwimfuza ze-TSC1 okanye ze-TSC2.
Ugqirha wakho uya kugqiba ukuba loluphi uvavanyo olufunekayo ngokusekelwe kwiimpawu zakho.
Zithini iindlela zonyango zoku?
Isifo se-Tuberous sclerosis asinakunyangeka ngokupheleleyo. Nangona kunjalo, kukho unyango olusebenzayo lokulawula nokulawula iimpawu. Unyango luxhomekeke kuhlobo lweempawu.
- Amayeza:
- Ukulawula ukuxhuzula: Kukho iintlobo ezahlukeneyo zamayeza okuxuzula.
- Ukunciphisa iithumba: Udidi lwamayeza abizwa ngokuba yi-mTOR inhibitors lunokulawula ukukhula kweethumba engqondweni, ezintso, nakwezinye iindawo kwaye luzinciphise.
- Utyando: Ngamanye amaxesha, iithumba ezinkulu eziyingozi kumalungu omzimba zinokufuna ukususwa ngotyando. Kubaluleke kakhulu ukususa iithumba ezithintela ukuhamba kolwelo engqondweni.
- Unyango lwe-dermatology: Abanye abantu banokuba neentloni ngokubonakala kwamaqhuqhuva ebusweni naselusu. Unyango olufana nokulungiswa kwesikhumba nge-laser kunye ne-dermabrasion lunokunciphisa ukubonakala kwawo.
- Ezinye iindlela zonyango: Unyango olufana nonyango lokuthetha kunye nonyango lomsebenzi lukwanceda kakhulu abantwana abanengxaki yokulibaziseka kokukhula.
Yintoni onokuyilindela ngelixa uphila nesi sifo?
Abantu abaninzi abanesi sifo kufuneka benze ii-scan ezifana ne-MRIs ubuncinane kanye ngonyaka omnye ukuya kwemibini, ingakumbi ngexesha lobuntwana, ukuze bajonge ukukhula kweethumba.
Impembelelo yesi sifo yahluka kakhulu kumntu nomntu.
- Abantu abaneempawu ezibuthathaka: Iimpawu azinzima kakhulu. Basenokufuna ukuthatha amayeza athile. Kodwa banokuphila ubomi obuqhelekileyo ngaphandle kokuphazamiseka okukhulu ebomini babo.
- Ezo zinempembelelo ephakathi: Nangona iimpawu zibangela ukuphazamiseka okuthile, zinokulawulwa kakuhle ngonyango kunye nokuhlolwa rhoqo ngugqirha.
- Abachaphazeleke kakhulu: Aba bantu banokuba nokuxhuzula okukhulu, ukukhubazeka kwengqondo, njl. Banokufumana kunzima ukuhlala bodwa kwaye banokufuna unyango rhoqo.
Ndifanele ndimbone nini ugqirha?
Ukuba wena okanye umntwana wakho une-TSC, kubalulekile ukubona ugqirha rhoqo ngamaxesha athile ebomini bakho. Oku kunokunceda ekufumaneni nasekunyangeni naziphi na iingxaki ezintsha kwangethuba.
Ufanele uye nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU)?
Ukuxhuzula okuhlala ixesha elingaphezu kwemizuzu emi-5 (ukuqina komzimba) okanye ukuxhuzula okuphindaphindiweyo ngokulandelelana (status epilepticus) yingxamiseko yezonyango. Kwiimeko ezinjalo, isigulana kufuneka sisiwe kwiYunithi yoNyango oluNgxamisekileyo yesibhedlele (ETU) ngoko nangoko.
Ukongeza, ukuba ufumana iimpawu ugqirha wakho akuxelele ukuba uzilumkele ngakumbi (umz., intloko ebuhlungu kakhulu, iintlungu zezintso), funa ingcebiso kagqirha ngoko nangoko.
Umyalezo Wokuya Ekhaya
- I-Tuberous sclerosis sisifo esibangelwa yimfuza, kodwa kwiimeko ezininzi asizuzwa njengelifa.
- Amaqhuma afumaneka kwesi sifo awanawo umhlaza.
- Iimpawu zahluka kakhulu kumntu nomntu. Iimpuku zolusu kunye nokuxhuzula zezona mpawu zixhaphakileyo.
- Nangona esi sifo singenakunyangwa ngokupheleleyo, kukho unyango olusebenzayo olunokunceda ukulawula iimpawu kunye nokuphila ubomi obulungileyo.
- Kubaluleke kakhulu ukubona ugqirha ngexesha elifanelekileyo ukuze uhlolwe kwaye uthathe amayeza akho njengoko uyalelwe.
💬 Comments (0)
Akukho zimvo zithunyelweyo okwangoku. Faka uluvo lwakho apha okokuqala.
Faka uluvo lwakho