Ngaba ukhe waphawula naluphi na ukulibaziseka kokukhula okanye ukuziphatha okungaqhelekanga kumntwana wakho kutshanje? Ngamanye amaxesha sicinga ngezi zinto njengezinto eziqhelekileyo ezenzeka ebantwaneni njengoko bekhula, kodwa zinokuba ziimpawu zokuqala zesifo esingaqhelekanga esibizwa ngokuba yiSanfilippo Syndrome. Musa ukoyika ngegama. Yimeko engaqhelekanga kakhulu. Kodwa kubalulekile ukuba abazali bayiqaphele. Ngoko ke, masithethe ngayo ngokucacileyo nangokulula.
Yintoni kanye kanye iSanfilippo Syndrome?
Ngamafutshane, esi sisifo esingaqhelekanga semfuza esichaphazela imetabolism yomntwana kunye nophuhliso lobuchopho. Sikwabizwa ngokuba yi-mucopolysaccharidosis type III.
Cinga ngemizimba yethu njengomzi-mveliso omkhulu. Ukuze lo mzi-mveliso usebenze kakuhle, ezinye izinto kufuneka ziqhekezwe, ziqhekezwe, zicocwe, kwaye zisuswe. Abasebenzi abancinci abancedisa kulo msebenzi babizwa ngokuba zii-enzymes . Umntwana one-Sanfilippo syndrome akanayo enye yezi enzymes zibalulekileyo.
Ngaphandle kwale enzyme, imolekyuli yeswekile yendalo ebizwa ngokuba yi -heparan sulfate ayiqhekeki kwaye isuswe emzimbeni ngokufanelekileyo. Endaweni yoko, iqala ukuqokelelana ngaphakathi kweeseli zomzimba. Kufana nenkunkuma efektri engacocwanga. Le nto iqokelelweyo igcinwa kwiindawo ezingaphakathi kweeseli ezibizwa ngokuba yi-lysosomes . Yiyo loo nto esi sifo sikwabizwa ngokuba sisifo sokugcina i-lysosomes .
Xa le nkunkuma iqokelelana, iiseli azikwazi ukusebenza kakuhle. Ekuhambeni kwexesha, oku kungonakalisa amalungu omzimba, kuthintele ukukhula, kubangele iingxaki zokuziphatha, kwaye konakalisa kakhulu inkqubo yemithambo-luvo.
Esi sifo sinqabile kakhulu. Sichaphazela malunga nomntu omnye kwabangama-70,000 abazalwayo. Umyinge wobomi babantwana abanesifo uphakathi kweminyaka eli-10 ukuya kwengama-20. Nangona kunjalo, ukuba kukho umntu kusapho lwakhe okhe waba nesi sifo ngaphambili, umngcipheko wokuba umntwana afumane esi sifo uphezulu.
Ngaba kukho iintlobo ezahlukeneyo zesi sifo?
Ewe, kukho iintlobo ezine eziphambili zesi sifo. Kukho iintlobo ezine zee-enzymes ezinceda ekuqhekezeni i-heparan sulfate esithethe ngayo ngaphambili. Ngoko ke, uhlobo lwesifo lumiselwa kukuba loluphi uhlobo lwezi enzymes luneengxaki . Ezinye iintlobo zinokuba nzima kunezinye.
| Uhlobo lwesifo | Amanqaku akhethekileyo | Umyinge wobomi obulindelekileyo |
|---|---|---|
| Uhlobo A | Uhlobo oluqhelekileyo nolunzima. Iimpawu zibonakala ngokukhawuleza. Umntwana unokulahlekelwa ngokukhawuleza kubuchule bokuhamba nokuthetha. | Malunga neminyaka eli-15. |
| Uhlobo B | Ayinzima kangako kune-type A. Iimpawu zikhula kancinci kancinci. | Malunga neminyaka eli-19 ubudala. |
| Uhlobo C | Uhlobo olungaqhelekanga kakhulu. Iimpawu zikhula kancinci. Amandla afana nokuhamba nokuthetha ahlala ixesha elide. | Malunga neminyaka engama-23 ubudala. |
| Uhlobo D | Uhlobo olunqabileyo. Iimpawu zikhula kancinci kakhulu. Kusekho ulwazi oluncinci kakhulu ngale nto. | Akunakwenzeka ukuqiniseka. |
Kubalulekile: Ezi lindelo zobomi zizinto eziqhelekileyo kuphela. Wonke umntwana wahlukile. Ngenxa yoko, zinokuhluka ngokuxhomekeke kwimeko yomntwana ngamnye.
Zithini iimpawu zesi sifo?
Iimpawu zokuqala zihlala ziqala ukubonakala phakathi kokuzalwa kunye neminyaka emi-2 ubudala. Nangona kunjalo, ngamanye amaxesha abazali basenokungaziqondi, okanye oogqirha banokuzijonga njengezinye iimeko (umz. i-autism).
| Uhlobo oluneempawu | Iimpawu eziqhelekileyo |
|---|---|
| Iimpawu Zokuqala | |
| Ukukhula kunye nokuziphatha | Ukulibaziseka ekuthetheni nakwezinye izinto ezibalulekileyo ekuphuhliseni, ukuziphatha okufana ne-autism, ukusebenza kakhulu, usulelo oluqhelekileyo lwendlebe kunye ne-sinus, iingxaki zokulala (ukungalali/ukuvuka). |
| Iimpawu zomzimba | Ubuso oburhabaxa kancinci (ibunzi namashiya avele ngaphandle, imilebe epheleleyo kunye nempumlo), ukukhula kakhulu kweenwele emzimbeni (i-hirsutism), intloko enkulu kunesiqhelo (i-macrocephaly), kunye ne-umbilical hernia. |
| Okunye | Ukuxinana kwendlela yokuphefumla engentla okuqhubekayo, urhudo oluqhubekayo. |
| Iimpawu Zasemva Kwexesha | |
| Ukuncipha kwezakhono | Ukuncipha kwamandla okufunda, okucinga, nokwenza imisebenzi, kunye nokulahlekelwa ngamandla okuhamba, okuthetha, okutya, nokuva ngokuhamba kwexesha. |
| Utshintsho lomzimba | Iimpawu zobuso ziyacaca ngakumbi, amalungu aqinileyo , izicubu zobuchopho ziyancipha (ukuwohloka kobuchopho), ukuxhuzula, kunye nokwanda kwesibindi okanye ipleyini. |
| Ukuziphatha | Iingxaki zokuziphatha, ukusebenza ngokugqithisileyo, kunye nokungakhathali kuya kusiba mandundu. |
Inkangeleko ekhethekileyo yamashiya
Abazali banokubona utshintsho ebusweni kubantwana abanale meko, ingakumbi xa bekunye nabantakwabo noodadewabo. Amashiya amakhulu namakhulu kunesiqhelo.Uphawu olukhethekileyo lwesi sifo kukuba ngamanye amaxesha ezi nkophe zimbini ziyadibaniswa, nto leyo eyenza zibonakale ngathi yinkophe enye ebunzini. Olu phawu lubonakala ngakumbi njengoko umntwana ekhula.
Indlela yokuxilonga esi sifo?
Ngenxa yokuba sisifo esingaqhelekanga kwaye iimpawu zokuqala zifana nezinye izifo, oogqirha badla ngokungasivavanyi kwasekuqaleni. Kodwa kubaluleke kakhulu ukufumanisa isifo kwangethuba ukuze umntwana afumane inkxaso nonyango aludingayo.
Ukuba umntwana wakho unengxaki yokulibaziseka kokukhula, ukuzalwa eneziphene, kunye nezinye zeempawu zokuqala esizixubushileyo, ugqirha wakho unokukuthumela ukuba uye kuvavanywa i-genetic okanye i-metabolic.
- Uvavanyo lomchamo: Uvavanyo lokuqala oluza kwenziwa luvavanyo lomchamo. Ukuba inqanaba le-heparan sulfate kumchamo womntwana liphezulu, luphawu lokuba kusenokwenzeka ukuba kukho i-Sanfilippo syndrome.
- Uvavanyo lwegazi: Uvavanyo lwegazi lwenziwa ukuqinisekisa isifo. Oku kujonga ukuba umsebenzi we-enzyme efanelekileyo uphantsi na.
Ukuba unenkxalabo malunga nokukhula okanye ukuziphatha komntwana wakho, ungaze woyike uze wenze izigqibo wedwa. Eyona nto ingcono onokuyenza kukuthetha nogqirha wezingane ngale nto.
Zithini iindlela zonyango?
Ngelishwa, akukho nyango lweSanfilippo syndrome, ngoko ke injongo ephambili yoogqirha kukubonelela ngononophelo oluxhasayo . Oko kukuthi, ukulawula iimpawu nokunika umntwana ubomi obusemgangathweni kangangoko kunokwenzeka.
Kusetyenziswa iindlela ezahlukeneyo zonyango kunye nonyango kule meko:
- Unyango lolwimi lokuthetha: Ukulibaziseka kwentetho luphawu oluqhelekileyo. Ingcali yokuthetha inceda umntwana ukuba athethe ngamagama kunye neempawu (umz., amakhadi emifanekiso).
- Unyango lokutyisa: Njengoko isifo siqhubeka, ukuhlafuna nokuginya kuba nzima. Ingcali yokutyisa iza kuphuhlisa indlela yokunceda umntwana atye ngokukhuselekileyo.
- Unyango lomzimba: Olu nyango lunceda umntwana ukuba ahambe ixesha elide kangangoko kunokwenzeka, ahlale eqinile, kwaye agcine ibhalansi. Ukuba kuyimfuneko, lunokunceda umntwana ukuba afumane izixhobo ezifana nesitulo esinamavili.
- Unyango lomsebenzi: Olu nyango lunceda ukugcina izakhono zomzimba ezisemgangathweni, njengokunxiba nokubamba amathoyizi, ixesha elide kangangoko kunokwenzeka.
Ukongeza, kukho iindlela zonyango zovavanyo ehlabathini, ezifana ne-Enzyme Replacement Therapy (ERT) kunye ne-Gene Therapy.
Nawe, wena unyamekela umntwana, kufuneka uzicingele.
Ukunyamekela umntwana onesifo esingaqhelekanga kangaka luxanduva olukhulu. Kwaye kukuzincama okukhulu. Kuqhelekile ukuba uzive uxinezelekile, udandathekile, unomsindo ngeli xesha lohambo.
Akunyanzelekanga ukuba uhambe wedwa kolu hambo. Ngenkxaso nolwazi olufanelekileyo, ungamnyamekela kakuhle umntwana wakho.
Ngoko ke, ungalibali ukucinga ngawe kunye nomntwana wakho.
- Cela uncedo kumntu omthembayo.
- Zinike ixesha lokuthatha ikhefu elincinci.
- Thetha ngeemvakalelo zakho nosapho lwakho okanye ugqirha wakho. Ukuba kuyimfuneko, funa uncedo kumcebisi wezempilo yengqondo.
Khumbula ukuba ukuze umntwana wakho aphile ubomi obungcono, kufuneka uqale uphile kakuhle .
Umyalezo Wokuya Ekhaya
- I-Sanfilippo Syndrome sisifo esingaqhelekanga esibangelwa yimfuza esichaphazela inkqubo yokukhupha inkunkuma emzimbeni.
- Iimpawu zokuqala ziquka ukulibaziseka kokukhula, ubunzima bokuthetha, ukusebenza kakhulu, kunye neempawu zobuso ezahlukileyo.
- Nangona kungekho ndlela ithile yokunyanga esi sifo, iindlela ezahlukeneyo zonyango zinokulawula iimpawu kwaye zinike umntwana ubomi obusemgangathweni.
- Ukuba unamathandabuzo malunga nokukhula komntwana wakho, qhagamshelana nogqirha wabantwana ngokukhawuleza ukuze ufumane icebiso.
- Ekubeni ukunyamekela umntwana onje kunzima, kubaluleke kakhulu ukuba wena njengomzali ukhathalele impilo yakho yomzimba neyengqondo.
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