Ukhathazekile ngamathambo engane yakho? Ake sifunde nge-XLH (X-Linked Hypophosphatemia)!

Ingabe ingane yakho encane iphuzile ukuhamba? Noma ingabe imilenze yayo ibukeka igobile kancane? Ngezinye izikhathi lokhu kungaba yinto evamile. Kodwa-ke, ngezinye izikhathi kungaba nesimo ngemuva kwayo njenge -XLH (X-Linked Hypophosphatemia) . Ake sixoxe ngalokhu kancane namuhla, akunjalo? Ungakhathazeki, ngizokusiza ukuqonde konke lokhu.

Kusho ukuthini i-XLH? Masiyiqonde kalula!

Kalula nje, i-XLH (X-Linked Hypophosphatemia) yisifo esibangelwa izakhi zofuzo. Okusho ukuthi, isimo esibangelwa ushintsho oluncane ezakhini zomzimba wethu. Sithinta kakhulu amathambo namazinyo akho . Kungenzeka ukuthi uke wezwa ngesifo esibizwa ngokuthi "ama-Rickets"? I-XLH uhlobo lwama-rickets. Izingane ezincane ezinalesi simo zingase zibe nobunzima bokuhamba, imilenze yazo ingase igobe. Akukhona lokho kuphela, kodwa zingase zibe nezinye izinkinga ezifana nobuthakathaka bemisipha kanye nokulahlekelwa ukuzwa.

Ziyini izimpawu ze-XLH? Ake siqaphele kancane!

Izimpawu ze-XLH zivame ukuvela ebuntwaneni. Kodwa-ke, ezinye izimpawu zingase zivele nasebudaleni.

Izimpawu ezinganeni ezincane:

Nazi ezinye izinto okufanele uziqaphele:

• Ubunzima bokuhamba noma ukubambezeleka kokuqala ukuhamba.
• Ukugoba imilenze noma ukuguqa ngamadolo, njengokungathi ibhola elikhulu lidlula phakathi kwemilenze.
• Ubuhlungu emathanjeni nasemisipheni. Ingabe ingane yakho encane ivame ukuthi, "O, imilenze yami ibuhlungu"?
• Ukuphakama okunciphile (ubude obufushane).
• Ukuzizwa ungenampilo futhi ukhathele ngaso sonke isikhathi.
• Ubuthakathaka bemisipha.
• Izinkinga zamazinyo: ukulahlekelwa amazinyo omntwana ngaphambi kwesikhathi, ubuhlungu bamazinyo, amathumba, ukubola kwamazinyo njalo.
• Izinguquko esimweni sekhanda noma sobuso. Ngezinye izikhathi lokhu kungabangelwa ukuhlangana kwamathambo ekhanda ngokushesha okukhulu (okubizwa ngokuthi 'i-craniosynostosis').

Izimpawu ezengeziwe ezikhula lapho umuntu ekhula:

Njengoba abantu abane-XLH bekhula, kungase kuvele izimpawu ezengeziwe. Lezi zimpawu zifaka:

• Ukulahlekelwa ukuzwa.
• Ikhanda elibuhlungu.
• Ukuncishiswa komsele womgogodla (i-Spinal Stenosis).
• Ukuthambisa amathambo kubantu abadala (`Osteomalacia`).
• Ukulahlekelwa ibhalansi ngenkathi uhamba, ubunzima bokuhamba.
• Ukulahlekelwa amazinyo ahlala njalo.
• Ukuqina noma ukuqina kwemisipha noma imisipha.
• Ukuqina kwamalunga, ubunzima bokugoba.
• Ukukhathala njalo.
• Ukuqhekeka kanye nokuqhekeka okungama-pseudo (okungukuthi, lapho ithambo libukeka sengathi liqhekekile ku-X-ray, kodwa empeleni akuyona iqhekeke eliphelele).

Yini ebangela i-XLH? Kungani lokhu kwenzeka?

Kulungile, manje ake sibone ukuthi kungani i-XLH ikhula. Isizathu salokhu ukuguqulwa kwezakhi zofuzo ku-'PHEX gene' emzimbeni wethu.. Le gene ye-`PHEX` yenza i-hormone ebizwa ngokuthi i-`FGF23` (`Fibroblast Growth Factor 23`). Le hormone ye-`FGF23` ibaluleke kakhulu. Ngoba, iyasiza ekulawuleni inani le -phosphate emizimbeni yethu. I-phosphate ibalulekile ekugcineni amathambo ethu ephilile.

Yilokhu okuvame ukwenzeka: Uma umzimba wethu une-phosphate eyanele, i-hormone `FGF23` itshela izinso ukuthi, "Kulungile, sekwanele manje, masisuse i-phosphate eningi emchameni." Kodwa-ke, uma umzimba udinga i-phosphate eyengeziwe, ukukhiqizwa kwe-hormone `FGF23` kuyancipha.

Manje, ukuguquka kwezakhi zofuzo ze-'PHEX' kubangela ukuthi umzimba wethu ukhiqize i-hormone ye-'FGF23' eningi kunaleyo oyidingayo. Ngenxa yale hormone eningi, umzimba ukhipha i-phosphate eningi kunaleyo oyidingayo emchameni. Yilapho i-phosphate edingekayo emathanjeni namazinyo ilahleka khona, futhi kuvela izimpawu ze-XLH. Uyaqonda?

Kalula nje: ushintsho ku-gene -> i-hormone ethi `FGF23` eningi ikhiqizwa -> i-phosphate eningi ikhishwa emzimbeni -> amathambo aba buthakathaka.

Ingabe i-XLH iwufuzo?

Yebo, lesi simo esibizwa nge-XLH sizuzwa njengefa ngephethini elinamandla elixhunywe ku-X . Lokhu kusho ukuthi uma umuntu ene-gene enaleyo nguquko yezakhi zofuzo, uzoba nalesi sifo. Kungase kuthinte abafana kancane .

Bheka manje, intombazane inama-chromosome amabili e-X, umfana une-chromosome eyodwa ye-X kanye ne-chromosome eyodwa ye-Y. Njengoba ngamunye wethu ethola i-chromosome eyodwa yobulili (X noma Y) kubazali bethu:

• Owesifazane one-XLH ngokuvamile unethuba elingu-50% lokudlulisela lesi sakhi sofuzo enganeni yakhe.
• Indoda ene-XLH idlulisela lesi sakhi sofuzo kuwo wonke amadodakazi ayo , kodwa hhayi emadodaneni ayo.

Kodwa-ke, ngezinye izikhathi ingane ingaba ne-XLH noma ngabe akekho kubazali abanayo. Ezimweni ezinjalo, ushintsho lwezakhi zofuzo lwenzeka ngokungahleliwe.

Wazi kanjani kahle ukuthi une-XLH?

Uma udokotela esola ukuthi une-XLH, angenza izivivinyo eziningana, njengokuthi:

• Ukuhlolwa kwegazi noma komchamo: Lokhu kuhlola amazinga e-phosphate kanye nama-hormone e-FGF23 .
• Ukuhlolwa Kwezakhi Zofuzo: Hlola ukuthi kukhona yini ukuguquka kwezakhi zofuzo ze-PHEX.
• Ukuhlolwa Kobuningi Bamathambo: Hlola ukuthi amathambo akho aqine kangakanani.
• Ama-X-ray noma ezinye izivivinyo zezithombe: Hlola ukuma kwamathambo nokuthi ngabe kukhona yini ukukhubazeka.

Yiziphi izindlela zokwelapha i-XLH?

Ngeshwa, alikho ikhambi le-XLH okwamanje. Kodwa-ke, kunezindlela zokwelapha ezingasiza ukulawula izimpawu nokugcina impilo yamathambo. Umgomo oyinhloko lapha akukhona ukubuyisela amazinga e-phosphate esimweni esijwayelekile (okungenzeka kungenzeki), kodwa ukugcina impilo yamathambo.

Lokhu okulandelayo kungenziwa njengokwelashwa:

• Ukunikeza izithasiselo ze-phosphate kanye ne-calcitriol (uhlobo lwevithamini D).
• I-Burosumab : Lena i-antibody ye-monoclonal evimba i-hormone i-FGF23.
• Ukwelashwa Komzimba (PT): Qinisa imisipha futhi wenze ukuhamba kube lula.
• Ukwelashwa Komsebenzi (OT): Kukusiza ukuthi wenze imisebenzi yansuku zonke kalula.
• Ukuhlinzwa ukuze kulungiswe ukukhubazeka kwamathambo (isib. imilenze egobile).
• Ukunikeza ama-hormone okukhula kulabo abafushane ngobude.
• Izinsiza zokuzwa zabantu abanenkinga yokuzwa.

Ngaphezu kwalokho, uma kuvela izinto ezifana nokuphuka kwamathambo noma izinkinga zamazinyo, zizodinga nokuhlinzwa noma olunye ukwelashwa.

Yini umuntu one-XLH angayilindela?

Uma wena noma ingane yakho ine-XLH, kubalulekile ukuthola ukuxilongwa nokwelashwa ngokushesha okukhulu . Lokhu kungasiza ekuvimbeleni izinkinga eziningi. Ngezinye izikhathi, ukukhubazeka kwamathambo kungaphela ngokwako, noma kungase kungabangela izinkinga. Kodwa-ke, kwezinye izimo, kungase kudingeke ukuhlinzwa noma ukwelashwa ngokomzimba ukuze kulungiswe. Kungumqondo omuhle ukukhuluma nodokotela wakho ngalokhu bese ubuza ukuthi yini ongayilindela.

Ingakanani iminyaka yokuphila komuntu one-XLH?

Izifundo zikhombisile ukuthi isikhathi sokuphila somuntu one-XLH singaba sifushane ngeminyaka eyisishiyagalombili kunomuntu ongenaso lesi simo. Kodwa-ke, ochwepheshe abakaqiniseki ukuthi yini ngempela ebangela lo mehluko wokuphila.

Ingabe i-XLH ingavinjelwa?

I-XLH iyisimo sofuzo, ngakho-ke ayinakuvinjelwa. Kodwa-ke, uma lesi sifo sitholakala kusenesikhathi futhi ukwelashwa okufana ne-Burosumab kuqalile, izingane zingakhula ngendlela evamile futhi zingenazo izimpawu . Uma une-XLH futhi ufuna ukwazi ngamathuba okudlulisela ezinganeni zesikhathi esizayo, kubaluleke kakhulu ukukhuluma nomeluleki wezakhi zofuzo .

Uma ngine-XLH, ngizinakekela kanjani mina/ingane yami?

Uma uhlala ne-XLH, lezi zinto zingakusiza ukuthi uzinakekele wena kanye nomntwana wakho:

• Yenza ukuhlolwa kofuzo. Uma lesi sifo siqinisekisiwe, ungaqala ukwelashwa ngokushesha okukhulu.
• Bonana nodokotela wamazinyo njalo ukuze izinkinga zamazinyo nezinsini zakho zibonakale kusenesikhathi.
• Qiniseka ukuthi uya kuma-aphoyintimenti okulandelela nsuku zonke uma ubona udokotela wakho. Ungayeki izinto ezifana nokwelashwa ngokomzimba (PT) kanye nokwelashwa ngokomsebenzi (OT). Tshela udokotela wakho uma unezimpawu ezintsha noma uma izimpawu zakho ziba zimbi kakhulu.
• Thatha imithi yakho oyinikezwe udokotela njengoba nje uyalelwe, ngesikhathi. Uma unemibuzo mayelana nokuthi ungayithatha kanjani imithi yakho, noma uma uhlangabezana nanoma yimiphi imiphumela emibi, tshela udokotela wakho.
• Yenza umsebenzi womzimba njengoba kunconywe udokotela wakho.Mbuze ukuthi yiziphi izivivinyo eziphephile ezizoqinisa amathambo akho.

Kufanele ngimbone nini udokotela?

Uma unenkinga ngempilo yengane yakho noma ukuthi iyahlangabezana yini nemigomo yokukhula, khuluma nodokotela wezingane . Uzoncoma ukuhlolwa okwengeziwe uma kudingeka.

Uma une-XLH, bona udokotela ngokushesha uma uba nezimpawu ezintsha noma uma izimpawu zakho ziba zimbi kakhulu.

Kunini lapho kudingeka uye e-Emergency Treatment Unit (ETU) ?

Bonana nodokotela wamazinyo uma kwenzeka isimo esiphuthumayo samazinyo. Isibonelo:

• Ubuhlungu obukhulu bezinyo.
• Izinyo liqhekezeke kabi noma liphukile.
• Izinyo elikhululekile noma elizokhululeka (izinyo elikhishwe).
• Ithumba lamazinyo livela empandeni yezinyo, okubangela ukuvuvukala kobuso nomhlathi.

Yimiphi imibuzo okufanele ngiyibuze udokotela?

Kungaba usizo ukubuza imibuzo efana nalena uma ubona udokotela wakho:

• Yiziphi izindlela zokwelapha ezitholakalayo kimi/enganeni yami?
• Ngingayivikela kanjani impilo yamathambo engane yami/yengane yami?
• Kufanele uye nini eGumbini Lezimo Eziphuthumayo (i-ETU) ?
• Kufanele ngiphinde ngikubone nini futhi?

Ingabe izingane ezine-XLH zifinyelela ekuthombeni?

Yebo, impela. Izingane ezine-XLH ziyathomba futhi zikhula ngokushesha njenganoma yimuphi omunye umntwana. Ungesabi lokho.

Okokugcina, okufanele ukukhumbule

Ukutholwa unesifo esihlala isikhathi eside kungaba yinto eyesabekayo. Ungase uzibuze ukuthi ikusasa lengane yakho - noma ikusasa lakho - lizoba njani nge-XLH.

Kodwa khumbula, abantu abane-XLH bangaphila impilo ende nenempilo. Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kungasiza kakhulu ekugcineni amathambo akho eqinile futhi enempilo. Ungalokothi unqikaze ukukhuluma ngokukhululekile nodokotela wakho nganoma yiziphi izinkinga noma imibuzo ongase ube nayo. Uzokwazi ukukusiza.

I- XLH, i-X-Linked Hypophosphatemia, izifo zamathambo, izifo zofuzo, ama-rickets, i-phosphate, impilo yabantwana, i-FGF23