Ingabe ingane yakho ibonakala imfushane kunezinye? Ake sifunde ngale hypochondroplasia!

Bazali, ingabe ngezinye izikhathi ninomuzwa wokuthi ingane yenu encane imfushane kunezinye izingane ezingontanga efanayo? Noma, ingabe ninomuzwa wokuthi ngisho nalapho ingane yenu ikhula, ayinde njengoba kulindelekile? Kuvamile ukuzizwa wesaba futhi ukhathazekile kancane lapho izinto ezinjengalezi zifika engqondweni. Namuhla sizokhuluma ngento engabangela lesi simo, kodwa okungakhulunywa ngayo kaningi.

Kulungile, iyini le hypochondroplasia?

Kalula nje, i-hypochondroplasia yisimo esithinta ukukhula kwamathambo ethu, okungukuthi, uhlelo lwamathambo. Odokotela babiza lesi simo ngokuthi i-skeletal dysplasia . Ngokuqondile, sithinta into ebizwa ngokuthi i-cartilage . Khumbula, i-cartilage iyizicubu ezithambile ezixhumanisayo ezivikela amathambo ethu ekugudlaneni lapho sinyakaza. Njengasezindlebeni nasemakhaleni ethu. Okwenzekayo kulesi simo ukuthi i-cartilage emathanjeni amade ezingalweni nasemilenzeni ayiguquki ibe yithambo kahle. Sibiza le nqubo ngokuthi i-ossification . Ngakho-ke, uma lokhu kungenzeki kahle, izitho ziba zimfushane kancane, yingakho ibizwa ngokuthi isimo esibangela 'ukufiphala kwemilenze emifushane'.

Sivame kangakanani lesi simo?

Kunzima ukusho ukuthi bangaki abantu abathola i-hypochondroplasia. Kodwa-ke, izifundo ziphakamisa ukuthi kungenzeka ngendlela efanayo ne -achondroplasia , okuyisimo esibi kakhulu. Kulinganiselwa ukuthi lesi simo sithinta phakathi kwengane eyodwa kwezingu-15,000 kanye nengane eyodwa kwezingu-40,000 emhlabeni jikelele. Lokho kusho ukuthi akuvamile kakhulu, kodwa futhi akukhona ukuthi akukho.

Ziyini izimpawu zalokhu?

Kunezimpawu eziningana zomzimba ezingasiza ekuboneni i-hypochondroplasia. Kodwa-ke, lezi zimpawu azifani kuwo wonke umuntu futhi zingahluka kumuntu nomuntu. Nazi ezinye zezimpawu:

• Ubude obufushane: Mfushane kunezinye izingane ezineminyaka efanayo.
• Ikhanda elikhulu: Ikhanda lingase libonakale likhulu kancane uma liqhathaniswa nomzimba wonke.
• Izingalo nemilenze emifushane: Izingalo ezingaphezulu, ikakhulukazi amathanga, zibonakala zimfushane.
• Izandla nezinyawo ezibanzi: Izintende zezandla nezinyawo zingase zibe zibanzi kancane.
• Ukungakwazi ukwelula ingalo ngokuphelele endololwaneni: Ukunyakaza kwendololwane kungase kube nokulinganiselwa ngandlela thile.
• Imilenze egobile: Imilenze ingase ibonakale sengathi igobile ngaphandle emadolweni.
• Ukugoba komhlane ongezansi (i-lordosis): Umhlane ongezansi ungase ugobe kakhulu ngaphakathi.

Ngokuvamile, lokhu kwehla kobude kubonakala lapho ingane isencane, phakathi kweminyaka emibili neyimithathu kanye nalapho iqala isikole. Ukuphakama okujwayelekile kowesilisa omdala one-hypochondroplasia kungaba ngamasentimitha angu-138 kuya kwangu-165 (amasentimitha angu-54-65). Kowesifazane, kungaba ngamasentimitha angu-128 kuya kwangu-151 (amasentimitha angu-50-59).

Ubuhlungu emalungeni ezandla nemilenze bungenzeka impilo yonke, ikakhulukazi ngemva kokuzivocavoca.

Nakuba lokhu kungavamile kakhulu, abantu abangaphansi kuka-10% abane-hypochondroplasia bangase babe nobunzima bokufunda obuncane kanye nezinselele zengqondo kusukela ebuntwaneni kuya ebudaleni. Kodwa-ke, kubalulekile ukukhumbula ukuthi ezimweni eziningi, lesi simo asithinti ubuhlakani .

Zivela nini lezi zimpawu?

Ngokuvamile, lobu bude obufushane abubonakali kahle lapho ingane isencane . Kuvame ukunakwa lapho ingane isikhulile kancane futhi idlula izigaba zokukhula, okusho ukuthi ayikhuli njengabanye abantwana, noma lapho ingasenawo 'ukukhula okusheshayo' kokuphakama ngokuzumayo isencane.

Iyini imbangela yalokhu?

Imbangela eyinhloko ye-hypochondroplasia ukuguquka kwezakhi zofuzo . Ezimweni eziningi, kubangelwa ushintsho ku-gene ebizwa ngokuthi i-FGFR3 gene . Le-gene ye-FGFR3 isiza ekukhiqizeni iphrotheni edingekayo ekukhuleni nasekugcinweni kwamathambo ethu. Lokhu kubaluleke kakhulu enkambisweni yokwakheka kwezicubu, okuyilapho i-cartilage iphenduka ithambo. Ngakho-ke, uma kukhona ushintsho ku-gene ye-FGFR3, leyo phrotheni iba namandla kakhulu futhi ayikwazi ukusiza amathambo ukuba akhule futhi akhule kahle.

Lesi simo singadluliselwa ezizukulwaneni ngezizukulwane. Lokhu kubizwa ngokuthi i-autosomal dominant pattern . Kalula nje, uma umzali oyedwa enalolu shintsho lwezakhi zofuzo, kunethuba elingu-50% lokuthi ingane yakhe izoluthola njengefa. Kodwa-ke, isikhathi esiningi, lezi zinguquko ku-FGFR3 gene zenzeka ngokungahleliwe (de novo) . Lokhu kusho ukuthi ushintsho lwezakhi zofuzo lungenzeka okokuqala, noma ngabe akekho emndenini oke waba nalesi simo ngaphambili.

Ezimweni ezimbalwa kakhulu, i-hypochondroplasia ingenzeka ngaphandle kwezinguquko ku-FGFR3 gene. Kulezi zimo, kucatshangwa ukuthi ingase ibangelwe ushintsho kwenye i-gene engakatholakali.

Lesi simo sithinta bani?

I-Hypochondroplasia yisimo esingathinta noma yimuphi umntwana . Njengoba kushiwo ngaphambili, ushintsho lwezakhi zofuzo lungazuzwa kubazali, noma lungenzeka ngokungahleliwe. Lezi zinguquko zezakhi zofuzo azibangelwa yinto eyenziwe ngumama ngesikhathi sokukhulelwa. Zenzeka ngokungalindelekile.

Ukubona kanjani lokhu?

Udokotela uxilonga i-hypochondroplasia ngemva kokuzalwa komntwana. Lokhu kungenxa yokuthi ukuhlolwa kwe-ultrasound okwenziwa ngesikhathi sokukhulelwa kungavezaIzimpawu zalesi simo azibonakali ngaso sonke isikhathi. Kodwa-ke, uma umama ene-hypochondroplasia futhi kwaziwa ukuthi kukhona yini ukuguquka kwezakhi zofuzo okubangela lokhu, lesi simo singatholakala ngesikhathi sokukhulelwa ngokuhlolwa kwe-CVS (chorionic villus sampling) noma ukuhlolwa kwe-amniocentesis .

Ngemva kokuzalwa komntwana, udokotela uzokwenza ukuhlolwa ngokomzimba komntwana. Bangase futhi benze ukuhlolwa kofuzo ukuthola i-gene eqondile ebangela izimpawu.

Yiziphi izivivinyo ezenziwayo ukuqinisekisa lokhu?

Udokotela angase ancome ukuhlolwa okuningana ukuqinisekisa ukutholakala kwe-hypochondroplasia. Lokhu kufaka phakathi:

• I-X-ray: Ukubona ukuthi ithambo likhula kanjani.
• Ukuhlolwa kwezakhi zofuzo: Ukuthola ukwehluka kwezakhi zofuzo okubangela izimpawu.
• Ukuhlolwa kwe-MRI (magnetic resonance imaging) noma i-CT scan (computed tomography scan): Hlola ukugoba komgogodla kanye nokucindezelwa kwemizwa.

Yiziphi izindlela zokwelapha lokhu?

Ukwelashwa kwe-hypochondroplasia kuhloswe ukulawula izimpawu ezingaholela ezinkingeni, njengokukhula kwamathambo okungavamile. Ukwelashwa akufani kuwo wonke umuntu futhi kuyahlukahluka kuye ngomuntu. Nakhu ongakwenza njengokwelashwa:

• Ukuhlinzwa komgogodla: Ngezinye izikhathi, uma kukhona inzwa ecindezelwe emhlane ongezansi, njenge- lumbar stenosis , ukuhlinzwa okufana ne -laminectomy kanye ne-decompression kungenziwa.
• Ukwelashwa ngokomzimba: Thuthukisa ukuhamba kanye nobubanzi bokunyakaza.
• Ukwelashwa ngama-hormone okukhula: Lokhu kunganikezwa ezinye izingane ukuze zibasize bakhule babe bade.
• Imithi yobuhlungu bamalunga: Imithi yokunciphisa ubuhlungu emalungeni.

Eminye imindeni nezingane ezine-hypochondroplasia zingakuthola kuwusizo kakhulu ukujoyina amaqembu okusekela . Kuyindlela enhle yokukhuluma nabanye abaye baba nokuhlangenwe nakho okufanayo ngesimo sengane yabo. La maqembu angaphinde anikeze ulwazi olubalulekile kanye nemfundo mayelana nomsebenzi, amalungelo okukhubazeka, kanye nokuba ngumzali.

Uma ingane yami ine-hypochondroplasia, yini okufanele ngiyilindele?

I-Hypochondroplasia yisimo sokuphila konke esingelapheki ngokuphelele . Kodwa-ke, ayithinti isikhathi sokuphila kwengane , futhi ingaphila impilo evamile.

Izimpawu zengane yakho zivame ukubonakala lapho isencane (okusho ukuthi ayinaso leso 'sikhukhula' sokukhula esingazelelwe). Lokhu kusho ukuthi imfushane kunabanye abaneminyaka yayo.

Kujwayelekile ukuzwa izinhlungu ezincane ezindaweni ezifana namadolo akho, izindololwane, namaqakala ngemva kokuzivocavoca. Ngisho noma usukhulile, ukungakhululeki kwamalunga nobuhlungu kungenzeka ngokuhamba kwesikhathi.

Udokotela wengane yakho uzoqapha njalo intuthuko yengane yakho futhi asikisele izindlela zokwelapha zokulawula izimpawu njengoba zivela.

Ngingayinciphisa kanjani ingozi yengane yami yokuthola i-hypochondroplasia?

Njengoba i-hypochondroplasia ingumphumela woshintsho lwezakhi zofuzo olungahleliwe, ayikho indlela yokuvimbela lesi simo ngaphandle kokuthi umbhangqwana wenze okuthile okufana nokuhlolwa kwezakhi zofuzo ngaphambi kokutshalwa .

Kodwa-ke, uma ubhema noma ubhekene namakhemikhali ngesikhathi sokukhulelwa, ingozi yokuba nomntwana onesimo sofuzo inganda. Lokhu kuyiphutha elivamile.

Uma uhlela ukuba nomntwana, kungcono ukukhuluma nodokotela wakho ngengozi yokuba nomntwana onesimo sofuzo.

Ngingayibona nini udokotela?

Uma ingane yakho itholakale ine-hypochondroplasia, futhi uma izimpawu zinzima kangangokuthi ingane ayikwazi ukwenza imisebenzi yansuku zonke, noma uma kukhona ubuhlungu obukhulu, ikakhulukazi ezingalweni nasemilenzeni, kufanele nakanjani ubone udokotela.

Futhi, uma ingane yakho ingakatholakali ine-hypochondroplasia, kodwa ilahlekelwa yizinyathelo zokukhula zobudala bayo - isibonelo, ukungabi 'nokukhula okusheshayo' - yazisa udokotela wakho.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Ungabuza udokotela imibuzo efana nale:

• Ingabe ngisengozini yokuthola omunye umntwana one-hypochondroplasia?
• Ingabe ingane yami idinga ukwelashwa?
• Ingabe ingane yami idinga ukuhlinzwa?
• Ingabe ikhona imiphumela emibi yokwelashwa?
• Ungancoma iqembu lokusekelana?

Uyini umehluko phakathi kwe-Hypochondroplasia ne-Achondroplasia?

I-Hypochondroplasia kanye ne -achondroplasia zombili ziyizimo zofuzo ezibangelwa yi -FGFR3 gene . Zombili zithinta ukukhula nokuphakama kwamathambo omuntu. Kodwa-ke, i-hypochondroplasia iwuhlobo oluthambile lwe-achondroplasia . Lokhu kusho ukuthi izimpawu azizimbi kangako.

Izingane ezine-hypochondroplasia ngokuvamile aziphuthelwa imisebenzi yansuku zonke yobuntwana ngenxa yesimo sazo. Iningi lezingane lifushane kunontanga yazo futhi azinazo izimpawu ezinkulu ezisongela impilo. Kodwa-ke, uma ziya esikoleni, zingase zibe sengozini yokuxhashazwa ezinye izingane. Ngakho-ke, kubalulekile ukuzisekela futhi, uma kudingeka, ukhulume nomeluleki wezempilo yengqondo . Kuvamile ngemindeni enengane ene-hypochondroplasia ukuthola amaqembu okusekelana lapho zingaxhumana khona nabanye futhi zifunde kokuhlangenwe nakho kwazo.

Uma ukhulelwe umntwana futhi ufuna ukuqonda ingozi yokuba nomntwana onesifo sofuzo, bheka udokotela wakho ukuze uxoxe ngokuhlolwa kofuzo.

Ngakho-ke, yiziphi izinto ezibaluleke kakhulu okufanele sizithathe ekhaya kule ndaba?

I-Hypochondroplasia yisimo sofuzo esithinta ubude bomntwana, kodwa akuyona inkinga yempilo yonke. Ingane ingaphila impilo evamile.

• Lokhu kuvame ukubangelwa ushintsho oluvela ngokungahleliwe lwezakhi zofuzo, ngakho ungacabangi ukuthi kungenxa yento oyenzile njengabazali.
• Izimpawu zincane, into eyinhloko ukuqina komzimba okufushane. Ukuhlakanipha ngokuvamile akuthinteki.
• Izimpawu zingalawulwa ngeseluleko sezokwelapha esifanele kanye nokwelashwa uma kudingeka.
• Kubaluleke kakhulu ukuthanda nokusekela ingane yakho, nokufuna ukwesekwa emaqenjini okusekela uma kudingeka. Lokhu kuzoyisiza ukuba yakhe ukuzethemba okuhle.
• Uma uneminye imibuzo mayelana nalokhu, ungangabazi ukukhuluma nodokotela womndeni wakho . Bazokunikeza isiqondiso esifanele.

I- Hypochondroplasia, ubude bomntwana, ubude obufushane, izifo zofuzo, ukukhula kwamathambo, i-FGFR3 gene, i-cartilage