Mwana wenyu ari kusangana nedambudziko guru rekukura kwemapfupa here? Ngatidzidzei nezveThanatophoric Dysplasia!

Semunhu anotarisira mwana, uzere nerudo rwechido uye kuda zvese nezvemwana wako, handiti? Asi dzimwe nguva, tinofanira kubata nemashoko atisati tambonzwa nezvawo uye anogona kutyisa zvishoma. Nhasi, tichataura nezvechirwere chisingawanzoitiki asi chakakomba chinonzi "Thanatophoric Dysplasia". Kunyangwe zita racho ringanzwika serakaoma zvishoma, ngatirichengetedzei riri nyore.

Chii chinonzi Thanatophoric Dysplasia?

Zvichitaurwa zviri nyore, thanatophoric dysplasia chirwere chinokonzerwa nemajini chinokanganisa kukura kwemapfupa nemapapu emwana. Chinowanzotanga mwana achiri mudumbu.

Izwi rekuti "thanatophoric" rinobva muchiGiriki chekare. Rinoreva "kuunza rufu." Zita iri rinotyisa zvishoma. Chikonzero ndechekuti vana vazhinji vanoberekwa vaine chirwere ichi vane njodzi huru yekufa vasati vaberekwa (kufa kwemwana akafa) kana mukati memazuva mashoma ekuzvarwa nekuda kwekutadza kufema, sezvo mapapu avo asati anyatsokura.

Zvisinei, kashoma , pave nemishumo yekuti vana vanozvarwa vaine chirwere ichi vanorarama kusvika paudiki vachirapwa zvakanyanya, kunyanya kana vachitadza kufema zvakanaka. Kutadza kufema uku kunoitika kana muviri wemwana usingawani okisijeni yakakwana kana kuti uine carbon dioxide yakawandisa.

Kune mhando dzechondrodysplasia here?

Ehe, kune mhando mbiri huru dzechirwere ichi dzinosiyaniswa zvichienderana nekusiyana kwekukura kwemapfupa:

• Rudzi rwekutanga: Vacheche vane rudzi urwu vane makumbo mapfupi kwazvo , chipfuva chakatetepa, zvidya zvakaita seuta , uye musana wakatsetseka (platyspondyly). Dzimwe nguva, mapfupa edehenya anosangana nekukurumidza (craniosynostosis). Rudzi urwu rwakajairika kupfuura rudzi rwechipiri. Funga nezvarwo semaoko netsoka diki dzechidhori, asi hazvina kuenzana nemuviri wese.

• Rudzi rwechipiri: Rudzi urwu rwemwana runewo makumbo mapfupi uye chipfuva chakamanikana . Zvisinei, mapfupa emuhudyu akatwasuka . Uyewo, nekuda kwekuti matinji ari mudehenya anokurumidza kuvhara, mapundu anogona kuonekwa kumberi nekumativi emusoro. Dzimwe nguva izvi zvinonzi "dehenya remashizha eclover" nekuda kwechimiro charo.

Dambudziko iri rakajairika zvakadii?

Thanatophoric dysplasia chirwere chisingawanzoitiki. Zvichienderana nehuwandu, mwana mumwe chete pavana 20,000 vega vega vanogona kutambura nechirwere ichi. Izvi zvinoreva kuti hachisi chinhu chinoonekwa kakawanda.

Ndezvipi zviratidzo zve thanatophoric dysplasia?

Nekuti chirwere ichi chinokanganisa kukura kwemapapu, mapfupa, uye majoini emwana mudumbu, zviratidzo zvinotevera zvinogona kuonekwa:

• Mapapu haasi kukura zvakanaka: Izvi zvinokonzerwa nembabvu pfupi uye chipfuva chakamanikana. Izvi zvinosiya mukana mudiki wekuti mapapu azvimbe uye akure zvakanaka.
• Mapete eganda akawedzerwa pamaoko nemakumbo.
• Musoro mukuru, huma yakabudikira, uye chiso chakati sandara.
• Kureba kupfupi (skeletal dysplasia) uye makumbo mapfupi zvikuru (micromelia).
• Maziso akafara.

Chikonzero chikuru cherufu muvana vanoberekwa vaine chirwere ichi kutadza kufema zvakanaka, uko kunoitika kana mapapu asingakure zvakanaka. Izvi zvinoita kuti zviomere mwana kufema zvakanaka.

Kashoma, vacheche vanorarama mushure mehucheche vanogona kuwedzera zviratidzo:

• Kukura kusina kujairika kwemapfupa.
• Kunetseka kufema nguva dzose.
• Kurasikirwa nekunzwa.
• Zvirwere zvakaita sepfari (kubatwa nepfari).

Chikonzero cheizvi chii?

Chikonzero chikuru che thalamophytic dysplasia ishanduko mu gene inonzi `FGFR3`. Iri gene re `FGFR3` ndiro rinopa mirairo yekukura nekuchengetedza mapfupa mumuviri wemwana. Funga nezvazvo sechishandiso chemwenje mumuviri wedu. Rinobatidzwa kana richidikanwa uye rinodzima kana basa rapera.

Asi kana paine shanduko mujini re'FGFR3', zvinoita sekunge chinja chemwenje chabatwa panzvimbo ye'on'. Zvadaro, mapuroteni anodzorwa nejini iri anotanga kushanda zvakanyanya. Nekuda kweizvozvo, maitiro e'ossification', maitiro ayo mapfupa marefu, cartilage, anova pfupa, anoganhurirwa. Zvichitaurwa zviri nyore, mapfupa haaumbike zvakanaka.

Zviitiko zvakawanda zve chondrodysplasia zvinokonzerwa nekuchinja kwemajini kunoitika mumwana. Izvi zvinoreva kuti hazvigamuchirwi kubva kuna amai kana baba. Kazhinji, hapana munhu mumhuri akambova nechirwere ichi. Zvisinei, kashoma , mwana anogona kugara nhaka kuchinja kwemajini uku kubva kune mumwe wevabereki. Izvi zvinonzi "autosomal dominant" pattern.

Mamiriro ezvinhu aya anokanganiswa naani?

Thanatophoric dysplasia inogona kuitika kumwana chero upi zvake. Izvi zvinokonzerwa nekuti shanduko iyi yemajini inowanzoitika zvisina tsarukano. Sezvambotaurwa, kashoma kuti igamuchirwe kubva kuvabereki.

Chinhu chakakosha ndechekuti shanduko idzi dzemajini hadzikonzerwi nechinhu chipi zvacho chakaitwa naamai panguva yekuzvitakura. Saka, usazvipa mhosva nekuda kweizvi.

Ko thanatophoric dysplasia inoonekwa sei?

Dambudziko iri rinowanzoonekwa mwana achiri mudumbu. Panguva yekuongororwa kweultrasound panguva yekuzvitakura,Dambudziko iri rinogona kuonekwa. Chiremba wako achakupa bvunzo dzinogona kuona mamiriro akasiyana-siyana emajini panguva yekuzvitakura. Panguva yekuongororwa, vanachiremba vanotsvaga zviratidzo zvakaita sekuwedzera kwehuwandu hwemvura yeamniotic yakakomberedza mwana (polyhydramnios) uye kusagadzikana mukukura kwemapfupa.

Kana, mushure mekuongororwa, pakaonekwa shanduko mujini re'FGFR3', vanachiremba vachatora matanho anodiwa kudzivirira matambudziko angangoitika panguva yekuzvitakura.

Mushure mekunge mwana azvarwa, X-ray yemapfupa emwana uye ultrasound yenhengo dzemukati, kunyanya mapapu , zvinogona kuitwa kuti zvionekwe kana paine mushonga wekufema unodiwa.

Ndedzipi mhando dzebvunzo dzinoitwa pakuita izvi?

Munguva yekuzvitakura, chiremba wako anogona kukupa bvunzo dzakadai kuti aone mamiriro ezvinhu emumajini:

• Amniocentesis: Izvi zvinosanganisira kutora sampuli diki yemvura yeamniotic yakakomberedza mwana pakati pemavhiki gumi nemashanu kusvika makumi maviri epamuviri uye kuiongorora kuti uone zvirwere zvakasiyana-siyana.
• Kuongororwa kweChorionic Villus (CVS): Muizvi, pakati pemavhiki gumi kusvika gumi nematatu ekuzvitakura, sampuli diki yemasero inotorwa kubva muplacenta yoongororwa mamiriro emuviri.

Ko thanatophoric dysplasia inorapwa sei?

Vacheche vanorarama mushure mekuzvarwa vanobva vatanga kurapwa nekukurumidza kuti vatsigire mapapu avo asina kukura zvakanaka. Izvi zvinobatsira mwana kufema zviri nani. Rutsigiro urwu rwekufema runogona kusanganisira:

• Kuisa chubhu mupaipi yemhepo (tracheostomy).
• Kupa okisijeni yekuwedzera kuburikidza nemhino (semuenzaniso, `Continuous Positive Airway Pressure` kana `CPAP` machine).
• Kupa mishonga yekubvisa mabronchodilator.
• Kushandisa muchina (ventilator) kubatsira kupa mweya kumapapu.

Pamusoro pezvo, kurapwa kunoshandiswawo kuderedza zvimwe zviratidzo zvechirwere ichi. Semuenzaniso:

• Kushandisa zvinhu zvinobatsira kunzwa kune vane matambudziko ekunzwa.
• Kupa mushonga wekudzivirira pfari.
• Kuvhiyiwa kana zvichidikanwa kugadzirisa kusakwana kwekukura kwemapfupa.

Kunyange hazvo vacheche vazhinji vanoonekwa vaine thanatophoric dysplasia vasingararame, timu yenyu yezvekurapa ichakudzidzisai nezvezvinhu zvinodiwa uye rutsigiro rwamunoda iwe nevadikanwi venyu kuti mugone kutsungirira kushungurudzika nenyaradzo inouya nekuongorora uku. Mazano ekurwadziwa, kana kuti mazano ekurwadziwa, inzira yekukubatsira kutsungirira chiitiko ichi chinoshungurudza uye kugadzirisa nguva ino yakaoma. Nyanzvi dzehutano hwepfungwa dziripowo kuti dzikubatsire kutsungirira kushungurudzika kwako.

Chii chaungatarisira kana mwana wako akaonekwa kuti ane thanatophoric dysplasia?

Kutaura zvazviri, fungidziro yekuti vana vanoonekwa vaine thanatophoric dysplasia haina kunaka zvakanyanya. Chikonzero chikuru cheizvi ndechekuti mapapu haana kukura zvakanaka. Nguva yavo yekurarama ipfupi zvikuru. Vana vazhinji vanofa vachizvarwa vakafa kana mukati memavhiki mashoma ekutanga ekuzvarwa.

Vacheche vanorarama mushure mekuzvarwa vanoda kutarisirwa zvakanyanya kuti vatsigire mapapu avo uye vagadzikane kufema kwavo. Vanowanzoda rubatsiro rwemuchina wekufema kubva paudiki hwavo.

Kufirwa nemwana chinhu chinorwadza uye chakaoma kutsungirira. Zvinogona kukanganisa hutano hwepfungwa dzako uye mamiriro ako emanzwiro. Kune rubatsiro rwekubatsira vabereki vari kuchema nevemhuri kuti vagone kurarama nekufirwa uku.

Ndingaderedza sei njodzi yemwana wangu yekubatwa nechondrodysplasia?

Nekuti chirwere ichi chinowanzo konzerwa nekuchinja kwemajini kunoitika zvisina tsarukano, hapana nzira yekudzivirira thanatophoric dysplasia. Kana uchironga kubata pamuviri, taura nachiremba wako nezvekuongororwa kwemajini kuti unzwisise njodzi yako yekuva nemwana ane chirwere ichi.

Ndingazvitarisira sei kana mwana wangu akaonekwa kuti ane thanatophoric dysplasia?

Kuziva kuti mwana wako ane chondroplasia idambudziko guru uye rinorwadza. Chikwata chako chekurapa chichakubatsira iwe nevadikanwi vako kurarama nenguva iyi yakaoma. Vachakupawo rubatsiro rwekutevera kuitira kuti iwe nemhuri yako muve neutano hwakanaka mushure mekurasikirwa nemwana wako.

Kana uri kusuruvara, kunetseka, kuora mwoyo, kana kushaya tariro, uye uri kutambura nekurasikirwa nemwana, zvakakosha kufonera chiremba wako. Vanogona kukutumira kune nyanzvi yehutano hwepfungwa kana boka rekutsigira vanhu vakafirwa. Ikoko, unogona kuudza vamwe vakambosangana nedambudziko rakafanana. Kuva nerutsigiro rwakakukomberedza kunogona kukubatsira kudzora kusuruvara kwako.

Unofanira kuenda kuchipatara panguva ipi?

Kana mwana wako akazvarwa aine thanatophoric dysplasia achinetseka kufema , aine kurova kwemoyo kusina kurongeka kana nekukurumidza , kana ganda rakatenderedza miromo, muromo, neminwe richichinja kuita bhuruu, pepuru, kana kuti rakachenuruka , izvi zvinogona kuva chiratidzo chekushaya mweya uye kushomeka kweokisijeni. Fonera 911 (kana nhamba yako yekukurumidzira yemuno) nekukasika kana kuenda kuchipatara che emergency chiri pedyo.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

• Ndingaongororwa majini here kana ndichironga kubata pamuviri?
• Kana ndikaedza kuva nemumwe mwana, pane mukana here wekuti mwana iyeye achavawo nechondrodysplasia?
• Ndezvipi zvinhu zvamungandikurudzira kuti ndikwanise kutsungirira kushungurudzika kwekufirwa nemwana wangu?

Kunyangwe ukaita zvese zvaunogona kuti uve nepamuviri pakanaka, shanduko dzemajini dzinogona kutungamira kumatambudziko anotyisidzira hupenyu, akadai se thyrotoxicosis. Munguva ino yakaoma, unogona kunzwa kusuruvara, hasha, kuvhiringidzika, kushaya simba, kana kurasikirwa. Saka, zvakakosha zvikuru kuva neboka rinokutsigira rakakupoteredza. Unogona kuwana nyaradzo mukutaura nenyanzvi yehutano hwepfungwa kana kubatana neboka rinokutsigira. Chikwata chako chekurapa chakagadzirira kupindura mibvunzo yako yese uye kukubatsira kugamuchira kurasikirwa uku.

Zvinhu zvakakosha zvekurangarira (Mharidzo Yekuenda Kumba)

Thanatophoric dysplasia chirwere chakaoma zvikuru, chisingawanzoitiki, uye chakaoma kuti vabereki vagadzirise nacho. Kudzidza nezvacho kunogona kuvhiringa uye kutyisa.

Chinhu chinonyanya kukosha kuziva kuti hausi wega. Vanachiremba, vanamukoti, vapi vemazano, pamwe chete nemhuri yako neshamwari varipo kuti vakutsigire panguva ino.

• Dambudziko iri rinowanzo kukonzerwa nekuchinja kwemajini nenzira isina kurongeka. Izvi zvinoreva kuti haisi mhosva yako.
• Kune bvunzo dzepamuviri dzinogona kuona chirwere ichi panguva yekuzvitakura.
• Kurapa kwacho kwakanangana nekutsigira kufema kwemwana uye kudzora zviratidzo.
• Zvakakosha zvikuru kutsvaga rubatsiro rwezvepfungwa kana wafirwa nepfungwa dzakadai.

Tinovimba kuti ruzivo urwu rwakubatsira kunzwisisa dambudziko iri rakaoma. Kana uine mimwe mibvunzo, usazeza kutaura nachiremba wako.

` thanatophoric dysplasia, mamiriro emajini, kuremara kwekuzvarwa, kukura kwemapfupa, kukura kwemapapu, jini reFGFR3, kutadza kufema, kuongororwa kwemwana asati aberekwa, zvirwere zvemajini, kukura kwemapfupa, kukura kwemapapu, hutano hwemwana asati aberekwa