Ingabe ingane yakho inenkinga enkulu ngokuthuthukiswa kwamathambo ayo? Ake sifunde nge-Thanatophoric Dysplasia!

Njengomama okhulelwe, ugcwele ilukuluku nothando ngakho konke ngomntwana wakho, akunjalo? Kodwa ngezinye izikhathi, kufanele sibhekane namagama esingakaze siwazwe futhi angaba yinto eyesabekayo kancane. Namuhla, sizokhuluma ngesimo esingavamile kodwa esibucayi kakhulu esibizwa ngokuthi "i-Thanatophoric Dysplasia". Nakuba igama lingase lizwakale liyinkimbinkimbi kancane, masiligcine lilula.

Kuyini i-Thanatophoric Dysplasia?

Kalula nje, i-thanatophoric dysplasia yisimo sofuzo esithinta ukukhula kwamathambo namaphaphu engane. Ngokuvamile iqala ngesikhathi ingane isesesibelethweni.

Igama elithi "thanatophoric" livela kwelesiGriki sasendulo. Lisho "ukuletha ukufa." Empeleni leli gama liyethusa kancane. Isizathu ukuthi izingane eziningi ezizalwa nalesi simo zisengozini enkulu yokufa ngaphambi kokuzalwa (ukuzalwa zifile) noma zingakapheli izinsuku ezimbalwa zokuzalwa ngenxa yokwehluleka kokuphefumula, njengoba amaphaphu azo engakakhuli ngokugcwele.

Kodwa-ke, akuvamile kakhulu , kube nemibiko yezingane ezizalwa nalesi simo ezisinda zize zibe yizingane ngokunakekelwa okujulile kwezokwelapha, ikakhulukazi ngenxa yokwehluleka kokuphefumula. Lokhu kwehluleka kokuphefumula kwenzeka lapho umzimba womntwana ungatholi umoya-mpilo owanele noma une-carbon dioxide eningi kakhulu kuwo.

Ingabe zikhona izinhlobo ze-chondrodysplasia?

Yebo, kunezinhlobo ezimbili eziyinhloko zalesi simo, ezihlukaniswa ngomehluko endleleni amathambo akhula ngayo:

• Uhlobo 1: Izingane ezinalolu hlobo zinemilenze emifushane kakhulu , isifuba esincane kakhulu, amathanga amise okwe-bow, kanye nomgogodla oyisicaba (platyspondyly). Ngezinye izikhathi, amathambo ekhanda ahlangana ngokushesha kakhulu (craniosynostosis). Lolu hlobo luvame kakhulu kunohlobo 2. Cabanga ngalo njengezandla nezinyawo ezincane zedoli, kodwa azilingani nomzimba wonke.

• Uhlobo 2: Lolu hlobo lomntwana lunemilenze emifushane kakhulu kanye nesifuba esincane . Kodwa-ke, amathambo ethanga aqondile . Futhi, ngenxa yokuthi imithungo ekhanda ivaleka ngokushesha, ukuvuvuka kungabonakala ngaphambili nasemaceleni ekhanda. Lokhu ngezinye izikhathi kubizwa ngokuthi "ikhanda le-cloverleaf" ngenxa yesimo salo.

Sivame kangakanani lesi simo?

I-Thanatophoric dysplasia iyisimo esingavamile kakhulu. Ngokwezibalo, cishe ingane eyodwa kwezingu-20,000 ezizalwayo ingase ihlushwe yilesi simo. Lokhu kusho ukuthi akuyona into ebonakala njalo.

Ziyini izimpawu ze-thanatophoric dysplasia?

Ngenxa yokuthi lesi simo sithinta indlela amaphaphu, amathambo, kanye namalunga omntwana akhula ngayo esibelethweni, izimpawu ezilandelayo zingabonakala:

• Amaphaphu awakhuli kahle: Lokhu kungenxa yezimbambo ezimfushane kanye nomgodi omncane wesifuba. Lokhu kushiya isikhala esincane samaphaphu sokufutha nokukhula kahle.
• Ukugoqa okwengeziwe kwesikhumba ezingalweni nasemilenzeni.
• Ikhanda elikhulu, ibunzi elivelele, nobuso obuyisicaba.
• Ubude obufushane (i-skeletal dysplasia) kanye nezingalo ezimfushane kakhulu (i-micromelia).
• Amehlo abanzi.

Imbangela enkulu yokufa ezinganeni ezizalwa nalesi simo ukwehluleka kokuphefumula, okwenzeka lapho amaphaphu engakhuli kahle. Lokhu kwenza kube nzima ngengane ukuphefumula kahle.

Akuvamile kakhulu ukuthi izingane ezisinda ngemva kobuntwana zingase zibe nezimpawu ezengeziwe:

• Ukukhula okungavamile kwamathambo.
• Ubunzima bokuphefumula obuqhubekayo.
• Ukulahlekelwa ukuzwa.
• Izimo ezifana nesifo sokuwa (ukuquleka).

Iyini imbangela yalokhu?

Imbangela eyinhloko ye-thalamophytic dysplasia ukuguquka kwezakhi zofuzo okuthiwa i-`FGFR3`. Le gene ye-`FGFR3` yiyo enikeza imiyalelo yokuthuthukiswa nokugcinwa kwamathambo emzimbeni womntwana. Cabanga ngayo njengesibani emzimbeni wethu. Iyavulwa uma kudingeka futhi ivaliwe uma umsebenzi usuqediwe.

Kodwa uma kukhona ukuguquka kwezakhi zofuzo ze-`FGFR3`, kufana nokuthi inkinobho yokukhanya inamathele endaweni ethi 'on'. Ngemuva kwalokho, amaprotheni alawulwa yile zakhi zofuzo asebenza ngokweqile. Ngenxa yalokho, inqubo 'yokwakheka kwezicubu', inqubo lapho amathambo amade, i-cartilage, eba yithambo, inqunyelwe. Kalula nje, amathambo awakheki kahle.

Amacala amaningi e-chondrodysplasia abangelwa ukuguquka kwezakhi zofuzo okusha okwenzeka enganeni. Lokhu kusho ukuthi akuzuzwa njengefa kumama noma kuyise. Ngokuvamile, akekho emndenini oke waba nalesi simo ngaphambili. Kodwa-ke, akuvamile kakhulu , ingane ingazuza lolu guquko lwezakhi zofuzo komunye wabazali. Lokhu kubizwa ngokuthi iphethini ethi ``autosomal dominant``.

Lesi simo sithinta bani?

I-Thanatophoric dysplasia ingenzeka kunoma yimuphi umntwana. Lokhu kungenxa yokuthi lolu shintsho lwezakhi zofuzo luvame ukwenzeka ngokungahleliwe. Njengoba kushiwo ngaphambili, aluvamile ukutholwa njengefa kubazali.

Into ebalulekile ukuthi lezi zinguquko zofuzo azibangelwa yinoma yini eyenziwa ngumama ngesikhathi sokukhulelwa. Ngakho-ke, ungazibeki icala ngalokhu.

I-dysplasia ye-thanatophoric itholakala kanjani?

Lesi simo sivame ukutholakala ngesikhathi umntwana esesesibelethweni. Ngesikhathi sokuhlolwa kwe-ultrasound ngesikhathi sokukhulelwa,Lesi simo singatholakala. Udokotela wakho uzosikisela ukuhlolwa okungathola izimo ezahlukahlukene zofuzo ngesikhathi sokukhulelwa. Ngesikhathi sokuhlolwa, odokotela bafuna izimpawu ezifana nokwanda kwenani le-amniotic fluid elizungeze ingane (i-polyhydramnios) kanye nokukhubazeka kokukhula kwamathambo.

Uma, ngemva kokuhlolwa okuthile, kutholakala uguquko ku-gene `ye-FGFR3`, odokotela bazothatha izinyathelo ezidingekayo ukuze bagweme izinkinga ezingaba khona ngesikhathi sokukhulelwa.

Ngemva kokuzalwa komntwana, kungenziwa i-X-ray yamathambo omntwana kanye ne-ultrasound yezitho zangaphakathi, ikakhulukazi amaphaphu , ukuze kutholakale ukuthi kukhona yini ukwelashwa kokuphefumula okudingekayo.

Hlobo luni lokuhlolwa okwenziwayo ngalokhu?

Ngesikhathi sokukhulelwa, udokotela wakho angase asikisele ukuhlolwa okufana nalokhu ukuze athole izimo zofuzo:

• I-Amniocentesis: Lokhu kuhilela ukuthatha isampula encane yoketshezi lwe-amniotic oluzungeze umntwana phakathi kwamasonto ayi-15 nama-20 okukhulelwa bese uluhlola ukuze kutholakale izimo ezahlukene zempilo.
• Ukusampula Kwe-Chorionic Villus (CVS): Kulokhu, phakathi kwamasonto ayi-10 kuya kwayi-13 okukhulelwa, kuthathwa isampula encane yamaseli ku-placenta bese kuhlolwa izimo zofuzo.

Iphathwa kanjani i-thanatophoric dysplasia?

Izingane ezisinda ngemva kokuzalwa zizoqala ngokushesha ukwelashwa ukuze zisekele amaphaphu azo angakakhuli kahle . Lokhu kusiza ingane ukuba iphefumule kangcono. Lokhu kusekelwa kokuphefumula kungafaka:

• I-Tracheostomy ukufakwa kwepayipi embhobheni womoya ( i-bronchi) .
• Ukunikeza umoya-mpilo owengeziwe ngamakhala (isb., `Ukucindezela Komoya Okuqhubekayo Okuhle` noma umshini we-`CPAP`).
• Ukunikeza ama-bronchodilator.
• Ukusebenzisa umshini (i-ventilator) ukusiza ekunikezeni umoya emaphashini.

Ngaphezu kwalokho, ukwelashwa kusetshenziselwa ukuqeda ezinye izimpawu zalesi simo. Isibonelo:

• Ukusetshenziswa kwezinsiza-kuzwa kubantu abanenkinga yokuzwa.
• Ukuhlinzeka ngomuthi wokulwa nokuquleka kwesifo sokuwa.
• Ukuhlinzwa uma kudingeka ukuze kulungiswe izinkinga zokukhula kwamathambo.

Nakuba izingane eziningi ezitholakale zine-thanatophoric dysplasia zingasindi, ithimba lakho lezokwelapha lizokufundisa ngezinsiza kanye nokusekelwa okudingayo wena nabathandekayo bakho ukuze nibhekane nosizi nenduduzo ehambisana nalokhu kuxilongwa. Ukwelulekwa ngosizi, noma ukwelulekwa ngokushonelwa, kuyindlela yokukusiza ubhekane nalesi simo esibuhlungu futhi uphathe lesi sikhathi esiyinselele. Ochwepheshe bezempilo yengqondo nabo bayatholakala ukukusiza ubhekane nosizi lwakho.

Yini ongayilindela uma unengane etholakale ine-thanatophoric dysplasia?

Eqinisweni, isibikezelo sezingane ezitholakale zine-thanatophoric dysplasia asisihle neze. Isizathu esiyinhloko salokhu ukuthi amaphaphu awakhuli kahle. Isikhathi sazo sokuphila sifushane kakhulu. Iningi lezingane liyafa njengezingane ezizalwa zifile noma phakathi namasonto ambalwa okuqala okuzalwa.

Izinsana ezisinda ngemva kokuzalwa zidinga ukunakekelwa okujulile ukuze zisekele amaphaphu azo futhi ziqinise ukuphefumula kwazo. Zivame ukudinga usizo lomshini wokuphefumula phakathi nobuntwana.

Ukulahlekelwa ngumntwana kuyinto ebuhlungu kakhulu futhi enzima ukuyibekezelela. Kungaba nomthelela omkhulu enhlalakahleni yakho yengqondo kanye nesimo sakho sengqondo. Kunezinsizakalo zokusekela ezitholakala kubazali abasosizini kanye namalungu omndeni ukuze zibasize babhekane nalokhu kulahlekelwa.

Ngingayinciphisa kanjani ingozi yengane yami yokuthola i-chondrodysplasia?

Ngenxa yokuthi lesi simo sivame ukuba umphumela wokuguquka kwezakhi zofuzo okusha okwenzeka ngokungahleliwe, ayikho indlela yokuvimbela i-thanatophoric dysplasia. Uma uhlela ukukhulelwa, khuluma nodokotela wakho mayelana nokuhlolwa kwezakhi zofuzo ukuze uqonde ingozi yakho yokuba nengane enesifo sofuzo.

Ngingazinakekela kanjani uma ingane yami itholakale ine-thanatophoric dysplasia?

Ukuthola ukuthi ingane yakho ine-chondroplasia kuyinto enzima kakhulu futhi ebuhlungu. Ithimba lakho lezokwelapha lizokusiza wena nabathandekayo bakho ukuthi nibhekane nalesi sikhathi esinzima. Bazophinde banikeze ukunakekelwa okulandelayo ukuqinisekisa ukuthi wena nomndeni wakho niphilile ngangokunokwenzeka ngemva kokulahlekelwa ingane yakho.

Uma uzizwa udabukile, ukhathazekile, ucindezelekile, noma ungenathemba, futhi ubhekene nobunzima bokubhekana nokulahlekelwa ingane, kubalulekile ukushayela udokotela wakho ucingo. Bangakudlulisela kuchwepheshe wezempilo yengqondo noma eqenjini lokusekela abashonelwe. Lapho, ungabelana ngemizwa yakho nabanye abake badlula kokuhlangenwe nakho okufanayo. Ukuba nenethiwekhi yokusekela ezungezile kungakusiza ukuthi ulawule usizi lwakho.

Kunini lapho kudingeka uye egumbini lezimo eziphuthumayo?

Uma ingane yakho ezelwe ine-thanatophoric dysplasia inenkinga yokuphefumula , inenhliziyo eshaya ngokungajwayelekile noma ngokushesha , noma isikhumba esizungeze izindebe, umlomo, neminwe siphenduka sibe luhlaza okwesibhakabhaka, onsomi, noma sibe mhlophe , lokhu kungaba uphawu lokucindezeleka kokuphefumula kanye nokuntuleka komoya-mpilo. Shayela u-911 (noma inombolo yakho yezimo eziphuthumayo yendawo) ngokushesha noma uye ekamelweni lezimo eziphuthumayo eliseduze.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

• Ngingakwazi yini ukuthola ukuhlolwa kofuzo uma ngihlela ukukhulelwa?
• Uma ngizama ukuba nomunye umntwana, ingabe kukhona ithuba lokuthi lowo mntwana naye uzoba ne-chondrodysplasia?
• Yiziphi izinsiza ongangincoma ukuze zingisize ngibhekane nosizi lokulahlekelwa yingane yami?

Ngisho noma wenza konke ongakwenza ukuze ukhulelwe kahle, izinguquko zofuzo zingaholela ezinkingeni ezisongela ukuphila, njenge-thyrotoxicosis. Phakathi nalesi sikhathi esinzima, ungase uzizwe udangele, uthukuthele, udidekile, ungenalusizo, noma ulahlekile. Ngakho-ke, kubaluleke kakhulu ukuba neqembu elikusekelayo elikuzungezile. Ungase uthole induduzo ngokukhuluma nochwepheshe wezempilo yengqondo noma ukujoyina iqembu elikusekelayo. Ithimba lakho lezokwelapha likulungele ukuphendula yonke imibuzo yakho futhi likusize ubhekane nalokhu kulahlekelwa.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

I-Thanatophoric dysplasia iyisimo esiyinkimbinkimbi kakhulu, esingavamile, nesinzima abazali okufanele babhekane naso. Ukufunda ngaso kungaba yinto edidayo kakhulu futhi eyethusayo.

Into ebaluleke kakhulu ukwazi ukuthi awuwedwa. Odokotela, abahlengikazi, abeluleki, kanye nomndeni wakho nabangani bakho bakhona ukukusekela phakathi nalesi sikhathi.

• Lesi simo sivame ukubangelwa ukuguquka kwezakhi zofuzo okungahleliwe. Lokhu kusho ukuthi akulona iphutha lakho.
• Kunezivivinyo zokukhulelwa ezingabona lesi simo ngesikhathi sokukhulelwa.
• Ukwelashwa kuhloswe kakhulu ukusekela ukuphefumula kwengane nokulawula izimpawu zayo.
• Kubaluleke kakhulu ukufuna ukwelulekwa ngosizi kanye nokusekelwa ngempilo yengqondo lapho ubhekene nokulahlekelwa okunje.

Sithemba ukuthi lolu lwazi lukusizile ukuthi uqonde lesi simo esiyinkimbinkimbi. Uma uneminye imibuzo, ungangabazi ukukhuluma nodokotela wakho.

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