Ngaba ukhathazekile ngamathambo omntwana wakho? Masifunde nge-XLH (X-Linked Hypophosphatemia)!

Ingaba umntwana wakho ufike emva kwexesha ekuhambeni? Okanye imilenze yakhe ibonakala igobile kancinci? Ngamanye amaxesha ezi zinto zinokuba ziqhelekile. Nangona kunjalo, ngamanye amaxesha kunokubakho imeko emva kwakhe efana ne -XLH (X-Linked Hypophosphatemia) . Makhe sithethe ngale nto kancinci namhlanje, akunjalo? Ungakhathazeki, ndiza kukunceda uqonde konke oku.

Ithetha ukuthini i-XLH? Masiyiqonde ngokulula!

Ngamafutshane, i-XLH (X-Linked Hypophosphatemia) sisifo semfuza. Oko kukuthi, imeko ebangelwa lutshintsho oluncinci kwiijini emzimbeni wethu. Ichaphazela kakhulu amathambo namazinyo akho . Usenokuba ukhe weva ngesifo esibizwa ngokuba yi-"Rickets"? Ewe, i-XLH luhlobo lwee-rickets. Abantwana abancinci abanale meko banokuba nobunzima bokuhamba, imilenze yabo inokugoba. Akunjalo nje kuphela, kodwa banokuba nezinye iingxaki ezifana nobuthathaka bemisipha kunye nokulahlekelwa kukuva.

Zithini iimpawu ze-XLH? Masilumke kancinci!

Iimpawu ze-XLH zihlala zibonakala kwasebuntwaneni. Nangona kunjalo, ezinye iimpawu zinokubonakala nasebudaleni.

Iimpawu kubantwana abancinci:

Nazi ezinye izinto ekufuneka uziqwalasele:

• Ubunzima bokuhamba okanye ukulibaziseka ukuqala ukuhamba.
• Ukugoba imilenze okanye ukungqubana kwamadolo, ngokungathi ibhola enkulu idlula phakathi kwemilenze.
• Intlungu emathanjeni nasezihlunwini. Ngaba umntwana wakho omncinci udla ngokuthi, "Owu, imilenze yam ibuhlungu"?
• Ukuncipha kobude (ubude obufutshane).
• Ndiziva ndingenabomi kwaye ndidiniwe ngalo lonke ixesha.
• Ubuthathaka bemisipha.
• Iingxaki zamazinyo: ukulahlekelwa ngamazinyo omntwana ngaphambi kwexesha, iintlungu zamazinyo, amathumba, kunye nokubola kwamazinyo rhoqo.
• Utshintsho kwimo yentloko okanye yobuso. Ngamanye amaxesha oku kunokubangelwa kukudibana kwamathambo ekhakayi ngokukhawuleza (okubizwa ngokuba yi-'craniosynostosis').

Ezinye iimpawu ezikhula xa umntu emdala:

Njengoko abantu abane-XLH bekhula, iimpawu ezongezelelweyo zinokuvela. Ezi ziquka:

• Ukulahlekelwa kukuva.
• Intloko ebuhlungu.
• Ukuncitshiswa komjelo womqolo (iSpinal Stenosis).
• Ukuthamba kwamathambo kubantu abadala (`Osteomalacia`).
• Ukulahlekelwa yibhalansi xa uhamba, ubunzima bokuhamba.
• Ukulahlekelwa ngamazinyo asisigxina.
• Ukuqina okanye ukuqina kwemisipha okanye imisipha.
• Ukuqina kwamalungu, ubunzima bokugoba.
• Ukudinwa rhoqo.
• Ukuqhekeka kunye nokuqhekeka okungamaqhekezi (oko kukuthi, apho ithambo libonakala ngathi liqhekekile kwi-X-ray, kodwa kungekuko ukuqhekeka okupheleleyo).

Yintoni ebangela i-XLH? Kutheni oku kusenzeka?

Kulungile, ngoku masibone ukuba kutheni i-XLH ikhula. Isizathu soku kukuguquka kwezakhi zofuzo kwi-'PHEX gene' emizimbeni yethu.. Le gene ye-`PHEX` yenza i-hormone ebizwa ngokuba yi-`FGF23` (`Fibroblast Growth Factor 23`). Le hormone ye-`FGF23` ibaluleke kakhulu. Kuba, inceda ukulawula ubungakanani be -phosphate emizimbeni yethu. I-phosphate ibalulekile ekugcineni amathambo ethu ephilile.

Oku kuqhele ukwenzeka: Ukuba umzimba wethu une-phosphate eyaneleyo, i-hormone `FGF23` ixelela izintso ukuba, "Kulungile, kwanele ngoku, masisuse i-phosphate egqithisileyo kumchamo." Nangona kunjalo, ukuba umzimba ufuna i-phosphate engakumbi, imveliso ye-hormone `FGF23` iyancipha.

Ngoku, utshintsho kwi-gene ye-'PHEX' lubangela ukuba umzimba wethu uvelise i-hormone ye-'FGF23' engaphezulu kunaleyo uyidingayo. Ngenxa yale hormone igqithisileyo, umzimba ukhupha i-phosphate engaphezulu kunaleyo uyidingayo kumchamo. Kulapho i-phosphate efunekayo emathanjeni nasemazinyweni ilahleka khona, kwaye iimpawu ze-XLH ziyavela. Uyaqonda?

Ngamafutshane: utshintsho kwi-gene -> i-hormone engaphezulu ethi `FGF23` iyaveliswa -> i-phosphate engaphezulu ikhutshwa emzimbeni -> amathambo aba buthathaka.

Ingaba i-XLH ifuzwa njengelifa?

Ewe, le meko ibizwa ngokuba yi-XLH ifunyanwa njengelifa kwi -X-linked autosomal dominant pattern . Oku kuthetha ukuba ukuba umntu une-gene enolu hlobo lwe-genetic, uya kuba nesifo. Inokubachaphazela ngakumbi abafana .

Ngoku khangela, intombazana inee-chromosome ezimbini ze-X, inkwenkwe ine-chromosome enye ye-X kunye ne-chromosome enye ye-Y. Ekubeni ngamnye kuthi efumana i-chromosome enye yesini (X okanye Y) kubazali bethu:

• Ibhinqa eline-XLH ngokubanzi linethuba elingama-50% lokudlulisela esi jini kumntwana walo.
• Indoda ene-XLH idlulisela olu jini kuzo zonke iintombi zayo , kodwa ayiludluliseli koonyana bayo.

Nangona kunjalo, ngamanye amaxesha umntwana unokuba ne-XLH nokuba akukho mzali ungenayo. Kwimeko ezinjalo, utshintsho lwemfuza lwenzeka ngokungacwangciswanga.

Wazi njani ukuba unayo i-XLH?

Ukuba ugqirha ukrokrela ukuba une-XLH, banokwenza iimvavanyo ezininzi, ezifana nezi:

• Uvavanyo lwegazi okanye lomchamo: Olu vavanyo lujonga amanqanaba e-phosphate kunye ne-FGF23 hormone .
• Uvavanyo lweMfuzo: Jonga ukuba kukho utshintsho kwi-PHEX gene.
• Uvavanyo loBunzima bamathambo: Jonga ukuba amathambo akho aqine kangakanani na.
• Ii-X-reyi okanye ezinye iimvavanyo zomfanekiso: Jonga imilo yamathambo kunye nokuba kukho naziphi na iziphene.

Ziziphi iindlela zonyango ze-XLH?

Ngelishwa, akukho nyango lwe-XLH okwangoku. Nangona kunjalo, kukho unyango olunokunceda ukulawula iimpawu kunye nokugcina impilo yamathambo. Injongo ephambili apha asikokubuyisela amanqanaba e-phosphate kwisimo esiqhelekileyo (esinokwenzeka ukuba singenzeki), kodwa kukugcina impilo yamathambo.

Oku kulandelayo kungenziwa njengonyango:

• Ukunika izongezo ze-phosphate kunye ne-calcitriol (uhlobo lwe-vitamin D).
• I-Burosumab : Le yi-antibody ye-monoclonal ethintela i-hormone ye-FGF23.
• Unyango Lomzimba (PT): Yomeleza izihlunu kwaye wenze ukuhamba kube lula.
• Unyango Lomsebenzi (OT): Lukunceda ukuba wenze imisebenzi yemihla ngemihla ngokulula.
• Utyando lokulungisa ukukhubazeka kwamathambo (umz., imilenze egobileyo).
• Ukunika iihomoni zokukhula kwabo bafutshane ubude.
• Izixhobo zokuncedisa ukuva kubantu abanengxaki yokuva.

Ukongeza, ukuba kukho izinto ezifana nokuqhekeka kwamathambo okanye iingxaki zamazinyo, ziya kufuna utyando okanye olunye unyango.

Yintoni enokulindelwa ngumntu one-XLH?

Ukuba wena okanye umntwana wakho une-XLH, kubalulekile ukufumana uxilongo kunye nonyango ngokukhawuleza . Oku kunokunceda ukuthintela iingxaki ezininzi. Ngamanye amaxesha, ezinye iingxaki zamathambo zinokuphela zodwa, okanye zisenokungabangeli naziphi na iingxaki. Nangona kunjalo, kwezinye iimeko, kunokufuneka utyando okanye unyango lomzimba ukuze zilungiswe. Kungumbono olungileyo ukuthetha nogqirha wakho ngale nto kwaye ubuze ukuba ulindele ntoni.

Ingakanani iminyaka yobomi bomntu one-XLH?

Izifundo zibonise ukuba ixesha lokuphila komntu one-XLH linokuba lifutshane ngeminyaka esibhozo kunomntu ongenaso esi sifo. Nangona kunjalo, iingcali azikaqiniseki ukuba yintoni kanye kanye ebangela lo mahluko kwixesha lokuphila.

Ngaba i-XLH ingathintelwa?

I-XLH yimeko yemfuza, ngoko ke ayinakuthintelwa. Nangona kunjalo, ukuba isifo sifunyenwe kwangethuba kwaye unyango olufana neBurosumab luqalile, abantwana banokukhula ngendlela eqhelekileyo kwaye bangabi nazimpawu . Ukuba une-XLH kwaye ufuna ukwazi malunga nokuba ungasidlulisela kubantwana bexesha elizayo, kubaluleke kakhulu ukuthetha nomcebisi wemfuza .

Ukuba ndine-XLH, ndingazinyamekela njani mna/umntwana wam?

Xa uhlala ne-XLH, ezi zinto zinokukunceda ukhathalele wena nomntwana wakho:

• Yenza uvavanyo lwemfuza. Ukuba isifo siqinisekisiwe, ungaqala unyango ngokukhawuleza.
• Bona ugqirha wamazinyo rhoqo ukuze iingxaki zamazinyo neentsini zakho zibonwe kwangethuba.
• Qiniseka ukuba uya kwiindawo zokulandelela yonke imihla xa ubona ugqirha wakho. Musa ukutsiba izinto ezifana ne-physiotherapy (PT) kunye ne-occupational therapy (OT). Xelela ugqirha wakho ukuba uneempawu ezintsha okanye ukuba iimpawu zakho ziya zisiba mandundu.
• Sela amayeza akho owayalelweyo kanye njengoko uyalelwe, ngexesha elifanelekileyo. Ukuba unemibuzo malunga nendlela yokusela amayeza akho, okanye ukuba ufumana naziphi na iziphumo ebezingalindelekanga, xelela ugqirha wakho.
• Yenza umthambo njengoko ugqirha wakho ekucebisa.Mbuze ukuba zeziphi iindlela zokuzilolonga ezikhuselekileyo eziya kuqinisa amathambo akho.

Ndifanele ndimbone nini ugqirha?

Ukuba unenkxalabo malunga nempilo yomntwana wakho okanye ukuba uyahlangabezana namanqanaba okukhula, thetha nogqirha wezingane . Uza kucebisa ukuba kwenziwe olunye uvavanyo ukuba kuyimfuneko.

Ukuba une-XLH, bonana nogqirha ngokukhawuleza ukuba ubonakalisa iimpawu ezintsha okanye ukuba iimpawu zakho ziya zisiba mandundu.

Kufuneka uye nini kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ?

Bona ugqirha wamazinyo xa kukho ingxaki yamazinyo. Umzekelo:

• Intlungu yamazinyo enzima.
• Izinyo liqhekezeke okanye laphukile kakubi.
• Izinyo elikhululekileyo okanye eliza kukhululeka (izinyo elikhutshiweyo).
• Ithumba lamazinyo livela engcanjini yezinyo, nto leyo ebangela ukudumba kobuso nomhlathi.

Ndingayibuza yiphi imibuzo ugqirha?

Kunganceda ukubuza imibuzo efana nale xa ubona ugqirha wakho:

• Zeziphi iindlela zonyango ezikhoyo kum/kumntwana wam?
• Ndingayikhusela njani impilo yamathambo am/omntwana wam?
• Ufanele uye nini kwiGumbi loNgxamiseko (i-ETU) ?
• Ndingakubona nini kwakhona?

Ngaba abantwana abane-XLH bafikelela kwinqanaba lokufikisa?

Ewe, ngokuqinisekileyo. Abantwana abane-XLH badlula ebusheni kwaye bakhula ngokukhawuleza njengaye nawuphi na umntwana. Musa ukoyika loo nto.

Okokugqibela, yintoni ekufuneka uyikhumbule

Ukufunyanwa unesifo esihlala ixesha elide kunokuba yinto eyoyikisayo. Usenokuzibuza ukuba ikamva lomntwana wakho - okanye ikamva lakho - liza kuba njani nge-XLH.

Kodwa khumbula, abantu abane-XLH banokuphila ubomi obude nobusempilweni. Ukuxilongwa kwangoko kunye nonyango olufanelekileyo kunokunceda kakhulu ekugcineni amathambo akho omelele kwaye esempilweni. Ungaze unqikaze ukuthetha ngokukhululekileyo nogqirha wakho malunga nayo nayiphi na inkxalabo okanye imibuzo onokuba nayo. Uya kukwazi ukukunceda.

I- XLH, i-X-Linked Hypophosphatemia, izifo zamathambo, izifo zemfuza, ii-rickets, i-phosphate, impilo yabantwana, i-FGF23