Ingabe ngezinye izikhathi uzizwa sengathi ingane yakho isalele emuva kancane ekukhuleni? Noma ingabe izici zobuso bayo nesimo somzimba wayo kubonakala kuhlukile kancane kwabanye abantwana abangontanga yayo? Ngezinye izikhathi, ngemuva kwalezi zinto, kungase kube nesimo esingavamile esingakaze sizwe ngaso. Namuhla, sikhuluma ngesifo abantu abaningi abangasazi, kodwa kubaluleke kakhulu ngathi njengabazali ukuba siqaphele. Leso yi-Hunter Syndrome.
Kalula nje, iyini i-Hunter Syndrome?
I-Hunter syndrome iyisimo esingavamile kakhulu, esihambisana nofuzo. Yilapho umzimba wengane yakho ungakwazi ukuphula nokugaya kahle ama-molecule athile kashukela ayinkimbinkimbi. Cabanga ngakho njengezinto ezincane ezisebenza ngaphakathi emizimbeni yethu, esizibiza ngokuthi ama-enzyme. Umsebenzi wazo ukuphula nokuhlanza izinto ezingena emizimbeni yethu, izinto esingazidingi.
Ingane ene-Hunter syndrome izalwa inenani elincane kakhulu le-enzyme edingekayo ukuze kuqhekeke uhlobo olukhethekile lwe-molecule kashukela. Ngakho-ke kwenzekani-ke? Lawo ma-molecule kashukela angenakuqhekeka kancane kancane aqala ukuqongelela ezithweni nasezicutshini zengane. Njengodoti ongasuswa, uyaqongelela. Ngokuhamba kwesikhathi, lokhu kuqongelela kungalimaza intuthuko yomzimba neyengqondo yengane.
Odokotela bahlukanisa lesi sifo zibe izingxenye ezimbili eziyinhloko:
1. Uhlobo olubi lwezimpawu: Lolu uhlobo oluvame kakhulu (cishe u-60%). Izimpawu zalezi zingane zithuthuka ngokushesha, futhi amakhono azo okuqonda nawo ayathinteka. Ngokuvamile, lapho eneminyaka engu-6-8, ingane iqala ukuba nezinkinga ngemisebenzi eyisisekelo.
2. Uhlobo oluncane: Izimpawu zivela kancane. Ukuhlakanipha kwengane ngokuvamile akuthinteki kakhulu.
Lesi sifo singeseqembu lezifo ezibizwa ngokuthi i-mucopolysaccharidoses. Yingakho i-Hunter syndrome ibizwa nangokuthi i-mucopolysaccharidosis type II (MPS II) .
Sivame kangakanani lesi sifo? Ngubani onamathuba amaningi okusithola?
Lesi yisifo esingavamile kakhulu. Futhi, sithinta kakhulu abafana . Ngokwezibalo, cishe oyedwa kubafana abayi-100,000 kuya ku-170,000 abazalwa utholakala enalesi sifo.
Kodwa-ke, amantombazane angaba abathwali besakhi sofuzo esingalungile esibangela lesi sifo. Kalula nje, intombazane inama-chromosome amabili e-X, kanti umfana uneyodwa kuphela. Ngakho-ke noma intombazane izuza i-chromosome ye-X engalungile, enye i-chromosome yakhe ye-X enempilo ingenza i-enzyme ayidingayo. Kodwa uma umfana ezuza i-chromosome ye-X engalungile, akanayo enye indlela futhi uba nezimpawu.
Ziyini izimpawu zalesi sifo?
Izimpawu zivame ukuqala ukubonakala enganeni eneminyaka ephakathi kwemi-2 neyi-4. Lezi zimpawu zingahluka kuye ngengane. Ezinye izingane zinezimpawu ezimbalwa, kanti ezinye zinezimpawu eziningi.
| Isibonakaliso | Incazelo |
|---|---|
| Ukubukeka komzimba | Izici zobuso ezimahhadlahhadla (amakhala ajiyile, izindebe, nolimi), ikhanda elikhulu kunelivamile, isifuba esibanzi, kanye nentamo emfushane. |
| Amalunga namathambo | Ukuqina kwamalunga ezitho, ubunzima bokugoba. |
| Ukukhula | Ukukhula okulibazisekile. Ukukhula kobude kuyayeka noma kwenzeka kancane kakhulu, ikakhulukazi ngemva kweminyaka emi-5. |
| Ukuzwa | Ukuzwa kancane kancane kuyaphela. |
| Izitho zangaphakathi | Ukwanda kwesibindi kanye ne-spleen (ukuphuma kwesisu). |
| Isikhumba namazinyo | Ukubonakala kwamaqhubu amhlophe esikhumbeni. Ukuvinjelwa kokuphuma kwamazinyo noma izikhala ezinkulu phakathi kwamazinyo. |
Kungani lesi sifo sivela ngempela?
Lokhu kubangelwa ukuguquka kwezakhi zofuzo ze-IDS . Izakhi zofuzo ze-IDS zinomthwalo wokulawula ukukhiqizwa kwe-enzyme ebizwa ngokuthi i-iduronate 2-sulfatase (I2S), edingwa ngumzimba wethu.
Le enzyme ye-I2S iphula ama-molecule kashukela ayinkimbinkimbi abizwa ngokuthi ama-glycosaminoglycans (GAGs). Izingane ezine-Hunter syndrome (MPS II) azikhiqizi nhlobo le enzyme ye-I2S, noma ziyikhiqize ngamanani amancane kakhulu.
Lokhu kubangela ukuthi ama-molecule kashukela abizwa ngokuthi ama-GAG aqoqeke kuma -lysosome, okuyizikhungo zokuvuselela amaseli. Ama-lysosome afana nezikhungo zokuvuselela amaseli. Izifo ezenzeka ngenxa yokuqongelela kwezinto ngaphakathi kwama-lysosome zibizwa nangokuthi izifo zokugcina i-lysosomal . Ngokuhamba kwesikhathi, lokhu kuqoqana konakalisa izitho zomzimba.
Yiziphi ezinye izinkinga ezingaba khona ngenxa yalesi sifo?
Kuye ngokuthi lesi sifo sibucayi kangakanani, ingane ingase ibe nezinkinga ezahlukahlukene. Odokotela basebenzisa imithi futhi ngezinye izikhathi ngisho nokuhlinzwa ukuze baphathe lezi zinkinga.
Into ebalulekile ukuthi akuzona zonke izingane ezizoba nazo zonke lezi zinkinga. Ngakho-ke ungakhathazeki. Kubalulekile ukuhlala uxhumana nodokotela njalo futhi uqaphe ingane yakho.
| Inkinga | Incazelo |
|---|---|
| Ubunzima bokuphefumula | Ukuqina kwezicubu zomoya kungavimba izindlela zomoya. |
| Isifo senhliziyo | Ama-valve enhliziyo angonakala. |
| Izinkinga zamathambo namalunga | Kungase kube nokukhubazeka emathanjeni nasemalungeni. |
| Umsebenzi wobuchopho | Ezimweni ezimbi kakhulu zesifo, ukusebenza kobuchopho kungase kuphazamiseke. |
| Ezinye izinkinga | I-Carpal tunnel syndrome, ama-hernia, ukuquleka, nezinkinga zokuziphatha zingavela. |
Ungasithola kanjani lesi sifo?
Udokotela wengane yakho uzokwenza izivivinyo eziningana ukuze axilonge lesi sifo.
- Ukuhlolwa komchamo: Lokhu kuhlola amazinga aphezulu ngokungavamile ama-molecule kashukela (ama-GAG) esikhulume ngawo ekuqaleni emchameni.
- Ukuhlolwa kwegazi: Lokhu kunganquma ukuthi umsebenzi we-enzyme efanele egazini uphansi noma awukho.
- Ukuhlolwa kwezakhi zofuzo: Lokhu kuhlolwa kwenziwa ukuqinisekisa ukuthi kukhona yini ukuguquka kwezakhi zofuzo okubangela lesi sifo.
Iphathwa kanjani?
Akukho ukwelashwa kwe-Hunter syndrome okwamanje . Kodwa-ke, kunezindlela zokwelapha zokulawula ukwenzeka kwalesi sifo, ukuthola izinkinga ngokushesha okukhulu, nokuthuthukisa ikhwalithi yokuphila kwengane.
Ukwelashwa okungcono kakhulu kwalokhu yi -Enzyme Replacement Therapy (ERT) . Lokhu kuhilela ukukhiqiza ngokwenziwa i-enzyme engekho emzimbeni bese uyinika ingane. Lo muthi ubizwa ngokuthi i-idursulfase (Elaprase®) . Lokhu kwelashwa kuvame ukunikezwa ngemithambo yegazi kanye ngesonto.
Ngaphezu kwalokho, ucwaningo ngokwelashwa kwezakhi zofuzo luyenzeka emhlabeni wonke, futhi kunethemba lokuthi luzoholela ekwelashweni okungcono esikhathini esizayo.
Ungathini ngekusasa lomntwana?
Ngiyazi ukuthi lo mbuzo unzima kakhulu ukuwubuza. Ezimweni ezimbi kakhulu zesifo, isikhathi sokuphila kwengane singaba sifushane. Ngokuvamile siphakathi kweminyaka eyi-10 nengama-20. Kodwa-ke, izingane ezinezimpawu ezincane zingaphila zize zibe ngabantu abadala.
Okubaluleke kakhulu, ukwelashwa kungasiza ingane yakho ukuthi ibhekane nezinselele ebhekene nazo futhi kuthuthukise ikhwalithi yempilo yayo. Ngakho-ke ungalokothi ulahle ithemba.
Imibuzo okufanele uyibuze udokotela wakho
Uma kutholakale ukuthi unesifo esinjalo enganeni yakho, kuvamile ukuba nemibuzo eminingi engqondweni yakho. Buza udokotela wakho ngalezi zinto ngokucacile.
- Ingabe lolu uhlobo olubi noma oluncane lwalesi sifo?
- Sizoba yini isimo sengane yami sesikhathi esifushane neside?
- Lesi sifo sizoyithinta kanjani impilo yengane yami?
- Yiziphi izindlela zokwelapha?
Kuvamile ukuthi umndeni ushaqeke futhi udabuke lapho uzwa ngesimo sezokwelapha esinjengalesi. Khumbula ukuthi awuwedwa ngalesi sikhathi. Khuluma nodokotela wakho, umndeni, nabangane abaseduze ngalokhu. Sonke sidinga ukusebenzisana ukuze sinikeze ingane yakho ukunakekelwa okungcono kakhulu.
Umlayezo Wokuya Nawe Ekhaya
- I-Hunter syndrome iyisifo esingavamile kakhulu, esithinta kakhulu abafana.
- Lesi sifo sibangelwa ukuntuleka kwe-enzyme ekhethekile emzimbeni, okubangela ukuthi ama-molecule athile kashukela aqoqeke emzimbeni futhi alimaze izitho zomzimba.
- Izimpawu zivame ukuqala ukuvela phakathi kweminyaka engu-2-4. Izimpawu eziyinhloko ukukhula okulibazisekile, izinguquko zobuso, kanye nokuqina kwamalunga.
- Nakuba kungekho ikhambi eliphelele lalokhu, ukwelashwa okufana nokwelashwa ngokushintsha ama-enzyme (ERT) kungalawula izimpawu futhi kuthuthukise impilo yengane.
- Uma ubona noma yikuphi ukukhubazeka ekukhuleni kwengane yakho, bona udokotela wakho ngokushesha. Ukuxilongwa kusenesikhathi kubaluleke kakhulu ekwelashweni.
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