Mwana wenyu ane dambudziko rekukura kwemapfupa here? Ngatidzidzei nezve Diastrophic Dysplasia

Wakambonzwa here nezvemashoko ekuti "Diastrophic Dysplasia"? Izvi zvingava zvitsva kwauri. Asi ichi chirwere chehutano chisingawanzoitiki uye chakananga chatinofanira kuziva. Funga nezvazvo, dzimwe nguva patinoona zvinhu zvakaita semakumbo evana vedu akapfupika, uye majoini asingakwanise kutambanudza zvakanaka, tinonzwa kutya kukuru, handiti? Ichi chirwere chinogona kukonzera zviratidzo zvakadaro. Saka, ngatitaurei nezvazvo nhasi, nenzira yaunogona kunzwisisa zvakanaka.

Chii chaizvo chinonzi diastrophic dysplasia iyi?

Zvichitaurwa zviri nyore, dystrophic dysplasia chirwere chisingawanzoitiki chinokanganisa kukura kwakanaka kwekatsi nemapfupa . Chinoitika pakuzvarwa , zvichireva kuti mwana anozvarwa aine chirwere ichi. Chinogona kupfuudzwa nezvizvarwa.

Mamiriro ezvinhu aya anogona kunyanya kukonzera zvinhu zvinotevera:

• Kusashanda zvakanaka kwejoini: Izvi zvinoreva kuti majoini ari mumuviri wedu haakure zvakanaka.
• Maoko nemakumbo mapfupi .
• Mupfupi .
• Kukura kusina kujairika kwehurongwa hwemapfupa (skeletal dysplasia).

Dambudziko iri rinogona kukanganisa nhengo dzakasiyana dzemuviri. Semuenzaniso:

• Nzeve
• Chiso
• Tsoka
• Maoko
• Nzvimbo yehudyu
• Makumbo
• Musana

Dzimwe nguva inonzi `DD` kana `DTD`, `Diastrophic dwarfism`, kana `Diastrophic nanism syndrome`. Chero zvazvingava, zvinoreva mamiriro akafanana.

Dambudziko iri hariwanzoitiki kangani?

Ichi chirwere chisingawanzoitiki . Zvinofungidzirwa kuti mwana mumwe chete pavana 500,000 vachangoberekwa ndiye anobatwa nechirwere ichi. Zvisinei, mune dzimwe nyika, dzakadai seFinland, chirwere ichi chinowanzoonekwa. Chikonzero cheizvi chinonzi ndechenhaka dzavo. Munyika iyoyo, chirwere ichi chinobata mwana mumwe chete pavana 30,000.

Sei izvi zvichiitika? Chii chiri kukonzera izvi?

Chikonzero chikuru che dystrophic dysplasia imutation yemajini . Izvi zvinogara nhaka. Izvi zvinoreva kuti kana mumwe munhu mumhuri aine chirwere ichi, pane mukana wekuti vana vake vachachiwanawo.

Kuchinja kwemajini uku kunokanganisa jini rakakosha zvikuru pakukura kwekatsi mumuviri wedu. Unoziva, katsi inhengo yakasimba uye inochinjika inoshandiswa kuvaka mapfupa emwana panguva yekukura kwemwana, ndiko kuti, paanenge ari mudumbu raamai.

Ruzhinji rwekatsi rinoshanduka kuita mapfupa mwana paanokura. Asi katsi rinosara munzvimbo dzakadai semagumo emapfupa, mhino, nenzeve. Saka, kana shanduko yemajini ikaitika, jini iroro harigone kubatsira pakuumbwa kwekatsi nemapfupa.

Chii chinokanganisa kushanduka kwemajini?

Kuchinja kwemajini kunokonzera chirwere ichi, "DTD," kunoitika mujini re "SLC26A2" . Rinonziwo "DTDST" (dystrophic dysplasia sulfate transporter). Jini iri rinogadzira puroteni inobatsira kuvaka cartilage uye kushandura cartilage kuita mapfupa.

Chinhu chakakosha ndechekuti munhu anogona kunge ari "mutakuri" wekuchinja kwemajini uku, asi asina chirwere ichi. Zvisinei, kana vabereki vese vari ivo vanotakuri, pane mukana we25% wekuti mwana wavo achaita chirwere ichi.

Ndezvipi zviratidzo zvinogona kuonekwa mumamiriro ezvinhu aya?

Zviratidzo zve diastrophic dwarfism zvinogona kusiyana zvikuru kubva pamunhu nemunhu. Kunyange zvazvo vanhu vazhinji vachiva nehurefu hupfupi uye vachikura zvishoma nezvishoma, zvimwe zviratidzo zvinogonawo kuonekwa muzvikamu zvakasiyana zvemuviri. Ngationei kuti chii.

Zviratidzo zvinogona kuonekwa pamusoro nemuromo:

• Huru yakafara uye bvudzi refu.
• Kukora kwenzeve, kuzvimba, kana kuchinja chimiro .
• Nzvimbo diki yeshaya isina kujairika (micrognathia).
• Zvisina kunaka zvemazino, semuenzaniso, mazino madiki kana kuti akazadzwa.
• Mukanwa wakatsemuka (cleft palate) inzvimbo isina kujairika iri padenga remuromo.
• Kutadza kufema zvakanaka .

Hunhu hwemakumbo:

• Zvigunwe zvipfupi zvisina kujairika (brachydactyly).
• "Zvigunwe zvemufambi" - zvinoreva kuti zvigunwe zvatariswa kunze.
• Tsoka imwe kana dzese dzakatariswa mukati (`clubfoot`). Izvi zvinonziwo clubfoot .
• Maoko nemakumbo mapfupi uye akadhonzwa .

Hunhu hwemajoini:

• Kusasimba kwemajoini (` contractures` ) – Izvi zvinogona kukonzera kuti majoini asakwanise kutambanuka zvizere uye zvinogona kudzikamisa kufamba.
• Mamwe majoini anosungana pamwe chete uye anotadza kufamba . Izvi zvinoderedzawo kufamba.
• Kuomarara kana kusunungura majoini, kana kutyoka kwemajoini.
• Kurwadziwa kwemajoini kunokonzerwa ne osteoarthritis.

Hunhu hwemusana:

• Kukombama kwemusana (kyphosis), izvo zvinogona kuita kuti musana utaridzike wakakotama.
• Kukombama kwemusana kumativi (scoliosis).

Izvi zvine zvazvinoita pakukura kwehuropi here?

Hapana mishumo yekuti dystrophic dysplasia inokanganisa kukura kweuropi kana kweuropi . Vanhu vane chirwere ichi vane njere dzakajairwa . Saka hapana chekunetseka nacho.

Chirwere ichi chinoonekwa sei?

Dzimwe nguva, dystrophic dwarfism inogona kuonekwa mwana asati aberekwa . Kana mumwe munhu mumhuri yako aine chirwere ichi, vanachiremba vanogona kukurudzira kuongororwa kwemajini pakutanga kwepamuviri.

Dambudziko iri rinogona kuonekwawo nekushandisa ultrasound yemwana asati aberekwa (fetal ultrasonography) . Kuongororwa uku kunotora mifananidzo yemwana paanokura mudumbu. Kana mifananidzo yacho ichiratidza kusarongeka kana kuremara mumapfupa, chiremba anogona kukurudzira kuongororwa kwemajini e dystrophic dysplasia.

Zvisinei, kazhinji, chirwere ichi chinoonekwa mushure mekunge mwana azvarwa . Kuongororwa kwacho kunoitwa kuburikidza nekuongororwa kwemuviri wemwana uye bvunzo dzinoratidza mapfupa akaremara kana mapfupi.

Kurapwa kweizvi ndekupi?

Kutaura chokwadi, hapana mushonga weDTD. Kurapa kwacho kwakanangana nekurapa zviratidzo zvemunhu wega wega uye kuvabatsira kuchengetedza hutano hwakanaka.

Munhu ane chirwere ichi angada rubatsiro rwechikwata chenyanzvi . Semuenzaniso:

• Nyanzvi yezvekunzwa inyanzvi inorapa matambudziko ekunzwa .
• Nyanzvi yezvemajini inofanira kubatsira mhuri kunzwisisa mamiriro ezvinhu aya.
• Nyanzvi dzezvekudya dzinogona kukupa mazano ezvekudya kana uine matambudziko emuromo nekudya.
• Chiremba wemazino inyanzvi yemazino inorapa matambudziko ane chekuita nemazino neshaya.
• Chiremba wemapfupa ( nyanzvi yemapfupa nemajoini).
• Chiremba wevana .
• Varapi vemuviri nevanorapa mabasa vanokubatsira kufamba zvakanaka uye kuita mabasa ezuva nezuva.
• Chiremba wemapapu ( chiremba ane ruzivo nezvezvirwere zvemapapu ) anobatsira kugadzirisa matambudziko ekufema.
• Kana zvichidikanwa, vanachiremba vanovhiya vanogadzirisa zvirema.

Nerubatsiro rwevanhu ava vese, tinogona kupa rutsigiro runodiwa kuti mwana ararame hupenyu hwakanakisisa.

Pane nzira yekudzivirira izvi here?

Hapana nzira yekudzivirira dystrophic dwarfism. Kana mumwe munhu mumhuri yako aine chirwere ichi, zvinokurudzirwa kuti uongorore majini usati wabata pamuviri.Zvakanaka kutaura nachiremba wako nezvenyaya iyi. Kuongororwa nekupiwa mazano zvinogona kukubatsira kuona kana uri murwere uye kuti zvingakanganisa sei mhuri yako.

Saka, hupenyu huchava hwakaita sei nemamiriro ezvinhu aya?

Diastrophic dysplasia inogona kuuraya vacheche vacheche vane matambudziko ekufema . Zvisinei, vanhu vazhinji vanorarama kusvika vakura . Zvichienderana nekuoma kwechirwere, vanogona kurarama nekurwadziwa uye kuremara. Zvisinei, nekurapwa kwakakodzera uye rutsigiro, vanogonawo kurarama hupenyu hwakanaka.

Mibvunzo inokosha yekubvunza chiremba wako

Kana mwana wako aine dystrophic dysplasia, zvakakosha kudzidza zvakawanda nekubvunza mibvunzo yakaita seiyi:

• Ndezvipi zvikamu zvemuviri wemwana wangu zvinokanganiswa?
• Izvi zvichakukanganisa here kweupenyu hwako hwese?
• Vanachiremba verudzii vanofanira kushanyirwa nemwana wangu? Kangani?
• Pane zvatingaita here kuti tigadzirise marwadzo emapfupa kana majoini?
• Kune mapoka ekutsigira vanhu vane chirwere ichi kana zvimwe zvakafanana here?
• Kana ndikava nevana vakawanda, vanogonawo kuva nechirwere ichi here?

Pakupedzisira, chinhu chinonyanya kukosha chekurangarira!

Dystrophic dysplasia chirwere chisingawanzoitiki, chinokanganisa kukura kwemapfupa nemapfupa . Vanhu vane chirwere ichi vanowanzova nehurefu hupfupi, makumbo mapfupi, uye matambudziko emajoini. Kana mumwe munhu mumhuri yako aine chirwere ichi, zvakakosha kutaura nachiremba nezvekuongororwa kwemajini uye kupiwa mazano.

Yeuka kuti hausi wega. Mumamiriro ezvinhu akadai, zvakakosha kuziva ruzivo rwakakodzera, kuwana mazano ekurapa anodiwa, uye kubatana nevanhu vanozokutsigira. Usatya kubvunza vanachiremba mibvunzo uye kukumbira rubatsiro.

` Diastrophic Dysplasia, Zvirwere zveMajini, Kukura kweMapfupa, Cartilage, Kupfupika, Matambudziko eMajoini