Uri kunetseka here nekukura kwemwana wako? Ngatidzidzei nezveRussell-Silver Syndrome!

Wakambonzwa here kuti kukura kwemwana wako kuri kunonoka? Kana kuti vanachiremba vakati mwana akazvarwa aine huremu hushoma kana kuti ane hunhu hwakasiyana? Dzimwe nguva, zvinhu zvakaita seizvi zvinogona kutinetsa zvikuru sevabereki. Nhasi, tichataura nezvechimwe chirwere chisingawanzoitiki asi chakakosha chekuziva. Ndicho chirwere cheRussell-Silver.

Ndiani anogona kuwana chirwere ichi? Chinowanzoitika sei?

Kutaura zvazviri, chirwere cheRussell-Silver chinogona kukanganisa chero mwana. Chinobata vakomana nevasikana zvakaenzana. Zvisinei, chirwere ichi chisingawanzoitiki . Maererano nehuwandu, chinokanganisa munhu mumwe chete pavana 15,000 kusvika mumwe chete pavana 100,000 vanozvarwa. Zvakaoma kupa nhamba chaiyo, nekuti dzimwe nguva zviratidzo zvechirwere ichi zvakafanana nezvezvimwe zvirwere zvekukura, uye dzimwe nguva hazvionekwi.

Dambudziko iri rakatanga kuwanikwa muna 1953 naDr. Henry Silver. Zvadaro muna 1954, Dr. Alexander Russell vakawana zvimwe zvinhu zvakawanda. Pakutanga, kwemakore angangoita makumi maviri, vaongorori vaifunga kuti varume vaviri ava vakawana zvirwere zviviri zvakasiyana. Zvakazoonekwa kuti vakaona zvinhu zvakasiyana zvechirwere chimwe chete. Ndosaka yava kunzi Russell-Silver syndrome. Mune dzimwe nyika, kunyanya muEurope, inonziwo Silver-Russell syndrome.

Ndezvipi zviratidzo zveRussell-Silver syndrome?

Ichi ndicho chinhu chinonyanya kukosha. Zviratidzo zvinogona kusiyana zvikuru kubva pamwana kuenda kumwana. Uye zvinogona kukanganisa nhengo dzakasiyana dzemuviri. Ngationei zviratidzo zvikuru.

Hunhu hune chekuita nekukura

Kune zvinhu zvakasiyana-siyana zvinofanira kuonekwa mukukura kwevana ava:

• Kurambidzwa kukura kwemwana mukati mechibereko (IUGR): Izvi zvinoreva kuti mwana haakure sezvaitarisirwa ari mudumbu.
• Kurema kwakaderera pakuzvarwa : Kurema kushoma pane kwakajairika pakuzvarwa.
• Kukundikana kukura zvakanaka uye kuwedzera huremu hushoma mushure mekusununguka : Iri idambudzikowo kune vanaamai vazhinji.
• Kureba kupfupi: Kuva mupfupi kupfuura vamwe vana vezera rimwe chete.

Dehenya nechitarisiko chechiso

Zvimwe zvinhu zvinogona kuonekwawo muchimiro chechiso nehukuru hwemusoro wevana ava:

• Kuva nemusoro mukuru kana tichienzanisa nemuviri wese (zvichienderana nehurefu nehuremu).
• Fontanelle , kana kuti nzvimbo yakapfava pamusoro, inotora nguva kuti ivharwe.
• Aine chiso chakaita setriangle .
• Huma inobuda mberi .
• Chirebvu chakatetepa .
• Shaya diki `(micrognathia)`.
• Makona emuromo anoita seakarerekera pasi .

Matambudziko emazino

Panogona kunge paine mamwe matambudziko ane chekuita nemazino:

• Kurasikirwa nemamwe mazino (hypodontia).
• Kuva nemazino madiki asingawanzoitiki (microdontia).
• Kuvhara mazino .
• Dzimwe nguva pane zvirwere zvakaita semukanwa wakatsemuka .

Humwe hunhu hwemuviri

Kune zvimwe zvinhu zvakawanda zvemuviri, zvinoti:

• Musiyano pakureba kwemaoko nemakumbo kumativi ese (hemihypertrophy).
• Munwe mudiki wakakombama mukati (clinodactyly).
• Kurwara kwemusoro (scoliosis ).

Ndezvipi zvinetso zvinogona kuitika neRussell-Silver syndrome?

Zvakakosha kuziva nezvemigumisiro yechirwere cheRussell-Silver, icho chinogona kukonzera matambudziko akasiyana-siyana ehutano kumwana wako.

Dambudziko rekudya nekunwa

• Chido chekudya : Mwana anogona kurasikirwa nechido chekudya.
• Chirwere che "chronic acid reflux" (GERD - Gastroesophageal Reflux Disease): Izvi zvinoreva kuti "mudumbu" acid inoyerera ichipinda muhuro.
• Esophagitis : Chirwere ichi (GERD) chinoita kuti gumbo rizvimbe.

Matambudziko ane chekuita nekukura kwetsinga

• Kunonoka kukura: Izvi zvinoreva kuti zvinhu zvakaita sekukunguruka, kugara, uye kufamba zvinononoka.
• Kunonoka kutaura .
• Kusiyana kwekudzidza : Mamwe matambudziko anogona kumuka mubasa rechikoro.

Mamwe matambudziko

• Kunonoka kukura .
• Kuomerwa nekufamba kana kuchengetedza kuenzana .
• Kuderera kweshuga muropa (hypoglycemia).
• Matambudziko eitsvo .
• Matambudziko nehurongwa hwekubereka uye hweweti .

Russell-Silver syndrome inokanganisa sei vanhu vakuru?

Vanhu vakuru vane chirwere cheRussell-Silver vanowanzova vapfupi . Vanhurume vanowanzova nehurefu hwemafiti 1.5. Vanhukadzi vanenge vane hurefu hwemafiti 1.5.

Uyewo, tsvakiridzo yakawana kuti vanhu ava vari panjodzi yekuva nematambudziko matsva ehutano pavanenge vachikura. Izvi zvinosanganisira:

• Chirwere chemetabolic.
• Kudzikira kwehuremu hwetsandanyama .
• Kuderera kwehuwandu hwemapfupa .
• Kudzikira kwechido chepabonde (hypogonadism).
• Kenza yematumbu .
• Myoclonus dystonia : Ichi chirwere chinokonzera kufamba kamwe kamwe, kusingadzoreki.

Chii chinokonzera chirwere ichi?

Russel-Silver syndrome chirwere chakaoma kunzwisisa . Chinokonzerwa nekusarongeka kwemajini mamwe anodzora kukura kwemuviri.Pari zvino zvinozivikanwa kuti vanhu vanosvika 60% vane chirwere ichi vanokonzerwa nekuchinja kwemajini mumachromosome 7 kana 11.

Asi, zvinoshamisa kuti vanhu vanosvika 40% vanoonekwa vaine chirwere ichi havana chikonzero chemajini chinozivikanwa. Zvinogoneka kuti chirwere ichi chinokonzerwa nekuchinja kwemachromosome kunze kwemachromosome 7 ne11. Vatsvaguri vachiri kuferefeta kuti ndedzipi dzimwe shanduko dzemajini dzingangove dziripo muchirwere ichi.

Kuongororwa kwechirwere kunoitwa sei?

Russell-Silver syndrome dzimwe nguva inogona kuoma kuona chirwere ichi. Sezvambotaurwa, zviratidzo nekuoma kwechirwere ichi zvinosiyana zvikuru kubva pamwana kusvika pamwana. Zvisinei, chiremba wemwana wako achatanga aita ongororo yakakwana yemuviri. Anogonawo kukurudzira kuongororwa kwemajini emuviri . Kuongororwa kwemajini uku kunogona kusimbisa kuongororwa kwechirwere ichi muzviitiko zvinenge 60%.

Russel-Silver syndrome inorapwa sei?

Kurapwa kwechirwere ichi kunosiyana kubva pamwana nemwana. Zvinoenderana nezviratidzo uye kuoma kwechirwere. Chinhu chakakosha kutanga kurapwa nekukurumidza . Apa ndipo pachava nemugumisiro wakanaka kwazvo. Chikwata chenyanzvi chicharapa mwana wako. Chikwata ichi chinogona kusanganisira:

• Chiremba wevana wemwana wako.
• Chiremba wevana anokura .
• Nyanzvi yemapfupa .
• Nyanzvi ye endocrinologist chiremba anonyanya kugadzira mahormone nemagland e endocrine .
• Chiremba ane hunyanzvi mukugaya chikafu (gastroenterologist).
• Nyanzvi yezvekudya .
• Chiremba wetsinga .
• Nyanzvi yemazino .
• Murapi wekutaura .
• Nyanzvi yezvepfungwa .
• Mupi wezano wezvemajini uye nyanzvi yezvemajini .

Nzira dzekurapa dzinosarudzwa zvichienderana nemamiriro emwana:

Kurapa kwekukura

Kurapa kwakakosha mumakore maviri ekutanga ehupenyu hwemwana kutsigira zvinovaka muviri . Vanachiremba vanova nechokwadi chekuti mwana ari kuwana huwandu hwakakwana hwemacalorie. Kana zvichidikanwa, chubhu yekudyisa inogona kushandiswa pachinangwa ichi:

• Chubhu yeNasogastric: Muizvi, chubhu yakatetepa inopfuudzwa nemumhino yemwana, gurokuro, uye mudumbu.
• Chubhu yemudumbu: Muizvi, kucheka kudiki kunogadzirwa pamadziro edumbu remwana uye chubhu inopinzwa zvakananga mudumbu.

Kurapa neGrowth hormone (GH therapy):

Nekurapwa uku:

• Zvinovandudza chimiro chemuviri wemwana, kukura kwesimba remuviri, uye kuda kudya.
• Inoderedza njodzi yekuderera kweshuga muropa (hypoglycemia).
• Inowedzera kukura .

Kurapa kwezvinetso zvekudya nekunwa

Kurapwa kweacid reflux kunogona kuitwa nenzira inotevera:

• Ipai chikafu chidiki kakawanda .
• Kubata mwana akamira zvakanaka panguva yekuyamwisa.
• Mishonga: H2 blockers , inoderedza kugadzirwa kweasidhi, uye mishonga ine simba, yakaita seproton pump inhibitors , iyo inobatsirawo kuporesa maronda mugurokuro.
• Fundoplication : Uku kuvhiya kunosimbisa vharuvhu (sphincter) iri pakati pegurokuro nedumbu remwana.

Kurapa kwehuwandu hweshuga muropa hwakaderera (Hypoglycemia)

Izvi zvinogona kurapwa seizvi:

• Kupa chikafu nguva nenguva .
• Zvekudya zvinovaka muviri.
• Zvikafu zvine makabhohaidhiretsi akaomarara .

Kurapa matambudziko emazino

Kurapa mazino kwakasiyana-siyana, kwakadai sekusungirirwa simbi kana kuvhiyiwa kwemuromo, kunogona kudiwa kugadzirisa matambudziko ane chekuita nemazino emwana wako.

Kurapa kwemamwe matambudziko

Dzimwe nguva simbi dzesimbi kana shangu dzinogona kubatsira kuvandudza kufamba uye kuenzana. Kuvhiyiwa kwekugadzirisa kusawirirana kwemakumbo hakuwanzodiwi.

Nzira yekubata nayo zviratidzo?

Pamusoro pemishonga, chiremba wemwana wako anogona kukurudzira dzimwe nzira dzakasiyana-siyana dzekurapa. Idzi dzinosanganisira:

• Kurapa kwepfungwa : Varapi vepfungwa (vashandi vemagariro evanhu) vanopa rutsigiro rwehutano hwepfungwa. Vanobatsira pamatambudziko ane chekuita nekuzviremekedza kwemwana, hukama hwevezera rake, uye kutaurirana nevamwe.
• Mazano eGenetic : Vanopa mazano eGenetic vanogona kusimbisa kuongororwa kwemwana wako uye kukupa iwe nemhuri yako mazano anodiwa.
• Kurapa muviri : Vanachiremba vemuviri vanobatsira kutambanudza nekusimbisa tsandanyama dzemwana netsinga kuburikidza nekurovedza muviri.
• Kurapa Kwemabasa : Varapi vemabasa vanobatsira nezvinhu zvakaita sehunyanzvi hwekufambisa muviri, kuona, kufunga zvakanaka, uye kugadzirisa manzwiro.
• Kurapa nekutaura : Varapi vekutaura vanobatsira nematambudziko ane chekuita nekutaura, mutauro, kutaurirana, pamwe nekudya nekumedza.

Ndingaderedza sei njodzi yekuti mwana wangu awane chirwere cheRussell-Silver?

Russell-Silver syndrome inokonzerwa nekuchinja kwemajini.Saka, hapana nzira yekudzivirira chirwere ichi. Kana uchironga kubata pamuviri uye uchida kunzwisisa njodzi yekuva nemwana ane chirwere chemajini, taura nachiremba wako nezvekuongororwa kwemajini usati wabata pamuviri .

Chii chandinofanira kutarisira kana mwana wangu aine chirwere cheRussell-Silver?

Russel-Silver syndrome chirwere chinogara kwenguva refu . Zvisinei, hachina migumisiro inotyisidzira hupenyu. Unogona kuva netariro nezveramangwana remwana wako. Asi zvinoenderana nekuongororwa uye kurapwa kwacho. Mwana wako achada rubatsiro rwechiremba nekukasika uye kuteverwa. Kana akarapwa nekukurumidza uye zvinobudirira, mwana wako anogona kurarama hupenyu hwakajairika .

Ndeupi musiyano uripo pakati peRussell-Silver syndrome neSilver syndrome?

Zvese izvi zvirwere zvisingawanzoitiki zvinokonzerwa nekuchinja kwejini. Zvisinei, Silver syndrome inokonzerwa nekuchinja kwejini reBSCL2 . Silver syndrome chirwere chemajini chinokonzera kuomarara kwetsandanyama (spasticity) uye kuoma mitezo yemakumbo epasi (paraplegia). Zviratidzo zveSilver syndrome zvinowanzotanga pazera rehudiki . Zviratidzo zvinogona kuwedzera kana vanhu vachikura, asi vanhu vane chirwere ichi vanogona kurarama hupenyu hune simba.

Kunzwa chirwere cheRussell-Silver syndrome kunogona kunetsa. Zvisinei, chinhu chakakosha kurangarira ndechekuti tarisiro yevana vanoberekwa vane chirwere ichi inowanzova yakanaka. Kana chikaonekwa chikarapwa nekukurumidza, chirwere cheRussell-Silver hachisi chirwere chinotyisidzira hupenyu. Chikwata chevanachiremba vane hunyanzvi chichashanda newe nemwana wako kuti chivabatsire kurarama hupenyu hwakanaka uye hwakajairika.

Saka, ndezvipi zvinhu zvatinofanira kurangarira kubva munyaya iyi? (Mharidzo Yekuenda Kumba)

Zvakanaka, ndinovimba wava kunzwisisa zviri nani nezveRussell-Silver Syndrome yatakataura nezvayo. Zvakajairika kuti unzwe kunetseka kana ukanzwa nezvechirwere chakadai. Zvisinei, chinhu chakakosha kusatya, kuwana ruzivo rwakakodzera, uye kutora matanho anodiwa.

• Russel-Silver syndrome chirwere chisingawanzoitiki chinokanganisa kukura kwemwana, kunyanya mwana asati aberekwa uye mushure mekuzvarwa.
• Zviratidzo zvinosiyana kubva pamwana mumwe kuenda kune mumwe, saka zvakakosha kutsvaga rubatsiro rwechiremba kana paine zvinokunetsa nezvekukura kana chitarisiko chemwana wako.
• Kuongororwa kwechirwere nekukurumidza uye kutanga kurapwa kwakakodzera ndizvo zvakanakira mwana. Izvi zvinoda rubatsiro rwenyanzvi dzakasiyana-siyana.
• Kunyangwe chirwere ichi chikaramba chiripo kweupenyu hwese, hachityisidzi hupenyu. Kana mwana akatarisirwa zvakanaka, anogona kurarama hupenyu hwakajairika.
• Hausi wega. Kune vanhu vakawanda vakaita savanachiremba, vapi vemazano, uye varapi vanogona kukubatsira iwe nemwana wako mumamiriro ezvinhu akadai.

Chekupedzisira, musatya kutaura nachiremba nezvechero dambudziko ramungave naro maererano nehutano hwemwana wenyu. Nekutungamirirwa kwakakodzera nerutsigiro, tinogona kukunda chero dambudziko.

Russel -Silver Syndrome, Russell-Silver Syndrome, zvirwere zvemajini, kukura kwemwana, huremu hushoma, kupfupika kwehurefu, kunonoka kukura kwemwana