Ngaba ngamanye amaxesha uvakalelwa kukuba umntwana wakho usemva kancinci ekukhuleni? Okanye ngaba ubuso bakhe kunye nokuma komzimba kubonakala kwahlukile kancinci kwabanye abantwana abaneminyaka yakhe? Ngamanye amaxesha, emva kwezi zinto, kunokubakho imeko engaqhelekanga esingazange sive ngayo. Namhlanje, sithetha ngesifo abantu abaninzi abangasaziyo, kodwa kubaluleke kakhulu ukuba thina njengabazali siqaphele. Yiyo loo nto i-Hunter Syndrome.
Ngamafutshane, yintoni iHunter Syndrome?
I-Hunter syndrome yimeko engaqhelekanga kakhulu, eyenzeka ngokwemfuza. Oku kwenzeka xa umzimba womntwana wakho ungakwazi ukuwohloka nokugaya iimolekyuli ezithile zeswekile ezintsonkothileyo. Cinga ngayo njengeehashe ezincinci ezingaphakathi emizimbeni yethu, esizibiza ngokuba zii-enzymes. Umsebenzi wazo kukuwohloka nokucoca izinto ezingena emizimbeni yethu, izinto esingazidingiyo.
Umntwana one-Hunter syndrome uzalwa ene -enzyme encinci kakhulu efunekayo ukuqhekeza uhlobo oluthile lwemolekyuli yeswekile. Ngoko ke kwenzeka ntoni emva koko? Ezo molekyuli zeswekile ezingenakwahlulwa ziqala ukuqokelelana kwizitho zomzimba nakwizicubu zomntwana. Njengenkunkuma engasuswayo, iyaqokelelana. Ekuhambeni kwexesha, olu qokelelo lunokwenzakalisa ukukhula komzimba nengqondo yomntwana.
Oogqirha bahlula esi sifo zibe ziinxalenye ezimbini eziphambili:
1. Uhlobo olunzima lweempawu: Olu lolona hlobo luqhelekileyo (malunga nama-60%). Iimpawu zaba bantwana zikhula ngokukhawuleza, kwaye nobuchule babo bokucinga buyachaphazeleka. Ngokwesiqhelo, xa umntwana eneminyaka eyi-6-8 ubudala, uqala ukuba neengxaki ngemisebenzi esisiseko.
2. Uhlobo olungephi: Iimpawu zibonakala kancinci. Ingqondo yomntwana ayisoloko ichaphazeleka kakhulu.
Esi sifo sikwiqela lezifo ezibizwa ngokuba yi-mucopolysaccharidoses. Yiyo loo nto i-Hunter syndrome ikwabizwa ngokuba yi -mucopolysaccharidosis type II (MPS II) .
Sixhaphake kangakanani esi sifo? Ngubani onokuba naso?
Esi sisifo esingaqhelekanga kakhulu. Kwakhona, sichaphazela kakhulu abafana . Ngokwezibalo, malunga nomnye kumakhwenkwe angama-100,000 ukuya kwi-170,000 azalwayo ufunyaniswa enaso esi sifo.
Nangona kunjalo, amantombazana angaba ngabathwali be-gene enesiphene ebangela esi sifo. Ngamafutshane, intombazana inee-chromosome ezimbini ze-X, ngelixa inkwenkwe inenye kuphela. Ngoko ke nokuba intombazana ifumana i-chromosome ye-X enesiphene, enye i-chromosome yayo ye-X ephilileyo inokwenza i-enzyme eyidingayo. Kodwa ukuba inkwenkwe ifumana i-chromosome ye-X enesiphene, ayinalo olunye ukhetho kwaye ibonakalisa iimpawu.
Zithini iimpawu zesi sifo?
Iimpawu zihlala ziqala ukubonakala kumntwana ophakathi kweminyaka emi-2 ne-4 ubudala. Ezi mpawu zinokwahluka kumntwana ngamnye. Abanye abantwana baneempawu ezimbalwa, ngelixa abanye beneempawu ezingaphezulu.
| Uphawu | Inkcazo |
|---|---|
| Inkangeleko yomzimba | Iimpawu zobuso ezirhabaxa (iimpumlo ezijiyileyo, imilebe, nolwimi), intloko enkulu kuneqhelekileyo, isifuba esibanzi, kunye nentamo emfutshane. |
| Amalungu namathambo | Ukuqina kwamalungu omzimba, ubunzima bokugoba. |
| Ukukhula | Ukukhula okulibazisekileyo. Ukukhula kobude kuyayeka okanye kwenzeka kancinci kakhulu, ingakumbi emva kweminyaka emi-5. |
| Ukuva | Ukuva kancinci kancinci kuyaphela. |
| Izitho zangaphakathi | Ukwanda kwesibindi kunye ne-spleen (ukuphuma kwesisu). |
| Ulusu namazinyo | Ukubonakala kwamaqhuqhuva amhlophe eluswini. Ukulibaziseka kokuphuma kwamazinyo okanye izithuba ezinkulu phakathi kwamazinyo. |
Kutheni esi sifo sisenzeka ngokwenene?
Oku kubangelwa kukuguquka kwe-IDS gene . I-IDS gene inoxanduva lokulawula ukuveliswa kwe-enzyme ebizwa ngokuba yi -iduronate 2-sulfatase (I2S), efunekayo emzimbeni wethu.
Le enzyme ye-I2S iqhekeza iimolekyuli zeswekile ezintsonkothileyo ezibizwa ngokuba yi-glycosaminoglycans (GAGs). Abantwana abane-Hunter syndrome (MPS II) abayivelisi kwaphela le enzyme ye-I2S, okanye bayivelise ngamanani amancinci kakhulu.
Oku kubangela ukuba iimolekyuli zeswekile ezibizwa ngokuba zii-GAG ziqokelele kwi -lysosomes, eziziziko zokuphinda zisetyenziswe zeeseli. Ii-Lysosomes zifana neziko zokuphinda zisetyenziswe zeeseli. Izifo ezenzeka ngenxa yokuqokelelana kwezinto ngaphakathi kwi-lysosomes zikwabizwa ngokuba ziingxaki zokugcina izinto ze-lysosomal . Ekuhambeni kwexesha, ezi ngqokelela zonakalisa amalungu omzimba.
Ziziphi ezinye iingxaki ezinokwenzeka ngenxa yesi sifo?
Ngokuxhomekeke kubukhulu besifo, umntwana unokuba neengxaki ezahlukeneyo. Oogqirha basebenzisa amayeza kwaye ngamanye amaxesha bade batyande ukuze balawule ezi ngxaki.
Into ebalulekileyo kukuba ayingabo bonke abantwana abaya kuba nazo zonke ezi ngxaki. Ngoko ke ungakhathazeki. Kubalulekile ukuhlala unxibelelana nogqirha kwaye umjonge umntwana wakho rhoqo.
| Ingxaki | Inkcazo |
|---|---|
| Ubunzima bokuphefumla | Ukutyeba kwezicubu zomoya kunokuthintela iindlela zomoya. |
| Isifo sentliziyo | Iivalvu zentliziyo zinokonakala. |
| Iingxaki zamathambo namalungu | Kunokwenzeka ukuba amathambo kunye namalungu abe nokukhubazeka. |
| Umsebenzi wobuchopho | Kwiimeko ezinzima zesifo, ukusebenza kwengqondo kunokuphazamiseka. |
| Ezinye iingxaki | I-Carpal tunnel syndrome, i-hernias, i-seizures, kunye neengxaki zokuziphatha zinokwenzeka. |
Indlela yokuxilonga esi sifo?
Ugqirha womntwana wakho uza kwenza iimvavanyo ezininzi ukuze afumanise esi sifo.
- Uvavanyo lomchamo: Olu vavanyo lujonga amanqanaba aphezulu ngokungaqhelekanga eemolekyuli zeswekile (ii-GAG) esithethe ngazo ngaphambili kumchamo.
- Uvavanyo lwegazi: Oku kunokumisela ukuba umsebenzi we-enzyme efanelekileyo egazini uphantsi okanye awukho.
- Uvavanyo lwemfuza: Olu vavanyo lwenziwa ukuqinisekisa ukuba utshintsho lwemfuza olubangela esi sifo lukhona na.
Iphathwa njani?
Akukho nyango lweHunter syndrome okwangoku . Nangona kunjalo, kukho unyango lokulawula indlela esiqhubeka ngayo esi sifo, ukubona iingxaki kwangethuba, kunye nokuphucula umgangatho wobomi bomntwana.
Unyango olungcono kakhulu koku yi -Enzyme Replacement Therapy (ERT) . Oku kuquka ukuvelisa i-enzyme engekhoyo emzimbeni ngokwenziwa kwaye uyinike umntwana. Eli yeza libizwa ngokuba yi-idursulfase (Elaprase®) . Olu nyango ludla ngokunikezelwa ngemithambo yegazi kanye ngeveki.
Ukongeza, uphando malunga nonyango lwezakhi zofuzo luyaqhubeka kwihlabathi liphela, kwaye kukho ithemba lokuba luya kukhokelela kunyango olungcono kwixesha elizayo.
Ungathini ngekamva lomntwana?
Ndiyazi ukuba lo ngumbuzo onzima kakhulu ukuwubuza. Kwiimeko ezinzima zesifo, ubomi bomntwana bunokuba bufutshane. Ngokwesiqhelo buphakathi kweminyaka eli-10 ukuya kwengama-20. Nangona kunjalo, abantwana abaneempawu ezincinci banokuphila bade babe ngabantu abadala.
Okubaluleke kakhulu, unyango lunokunceda umntwana wakho ukuba akwazi ukumelana nemingeni ajongene nayo kwaye luphucule umgangatho wobomi bakhe. Ngoko ke ungaze ulahle ithemba.
Imibuzo omele uyibuze ugqirha wakho
Ukuba ufunyaniswe ukuba unesi sifo kumntwana wakho, kuyinto eqhelekileyo ukuba nemibuzo emininzi engqondweni yakho. Buza ugqirha wakho ngezi zinto ngokucacileyo.
- Ingaba olu luhlobo olunzima okanye oluncinci lwesifo?
- Iza kuba yintoni imeko yomntwana wam yexesha elifutshane nelide?
- Esi sifo siza kuyichaphazela njani ubomi bomntwana wam?
- Ziziphi iindlela zonyango?
Kuqhelekile ukuba usapho lothuke kwaye ludane xa lufumanisa ngemeko yezonyango efana nale. Khumbula ukuba awuwedwa ngeli xesha. Thetha nogqirha wakho, usapho, kunye nabahlobo abasondeleyo ngale nto. Sonke kufuneka sisebenzisane ukuze sinike umntwana wakho unyango olungcono kakhulu.
Umyalezo Wokuya Ekhaya
- I-Hunter syndrome sisifo esingaqhelekanga kakhulu, esifuzo esichaphazela kakhulu abafana.
- Esi sifo sibangelwa kukungabikho kwe-enzyme ekhethekileyo emzimbeni, nto leyo ebangela ukuba iimolekyuli ezithile zeswekile ziqokelele emzimbeni kwaye zonakalise amalungu omzimba.
- Iimpawu zihlala ziqala ukubonakala phakathi kweminyaka emi-2-4 ubudala. Iimpawu eziphambili kukukhula okulibazisekayo, utshintsho lobuso, kunye nokuqina kwamalungu.
- Nangona kungekho nyango lupheleleyo loku, unyango olufana nonyango lokutshintshwa kwee-enzyme (ERT) lunokulawula iimpawu kwaye luphucule ubomi bomntwana.
- Ukuba ubona naziphi na iingxaki ekukhuleni komntwana wakho, bonana nogqirha wakho ngoko nangoko. Ukuxilongwa kwangoko kubaluleke kakhulu kunyango.
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