Mwana wenyu ane chirwere ichi chisingawanzoitiki here? Ngatidzidzei nezveShwachman-Diamond syndrome (SDS)

Mwana wenyu ari kurwara nguva dzese here? Haasi kuwedzera uremu here? Kana kuti muri kuona shanduko dziri kuitika mumapfupa ake here? Dzimwe nguva, izvi zvinogona kunge zvichikonzerwa neShwachman-Diamond syndrome (SDS), chirwere chisingawanzoitika mumajini chinokanganisa vana. Ngatikurukurei nezvazvo nenzira iri nyore yamunonzwisisa.

Chii chinonzi Shwachman-Diamond syndrome (SDS)?

Zvichitaurwa zviri nyore, chirwere cheShwachman-Diamond (SDS) chirwere chisingawanzoitiki chinokanganisa pancreas, bone morrow, uye mapfupa evana. Chinowanzoonekwa mwana asati asvitsa gore rimwe chete. Zvisinei, dzimwe nguva chinogona kuonekwa muvana vadiki.

SDS chirwere chakaoma kuongorora nekurapa nekuti chinogona kukonzera zviratidzo zvakasiyana-siyana. Mwana anogona kuva nechimwe, zvimwe, kana zviratidzo izvi zvese. Semuenzaniso, mwana mumwe anogona kuva nematambudziko nepancreas nemapfupa, nepo mumwe mwana angangova nematambudziko nemwongo nemapfupa.

Chirwere ichi hachigone kufungidzirwa . Zviratidzo zvevana zvinogona kunge zviri zvishoma kana zvakanyanya. Zviratidzo izvi zvinogona kuchinja nekufamba kwenguva. Nekuti vana vane SDS vane matambudziko akasiyana-siyana ehutano, vana vazhinji vanoda rubatsiro rwechikwata chenyanzvi . Kunyangwe vana vane chirwere ichi vachida kurapwa kwehupenyu hwavo hwese, vanowanzo rarama hupenyu hwakajairika. Zvisinei, vamwe vana nevakuru vechidiki vanogona kuva nekenza yeropa inouraya (Acute Myeloid Leukemia) kana chirwere cheropa chakakomba (Myelodysplasia).

Izvi zvinowanzoitika here?

Zvakaoma kutaura chokwadi. Vanachiremba vanoona chirwere cheShwachman-Diamond chirwere chisingawanzoitiki. Asi pane fungidziro dzisina kujeka dzekuti vana vangani vane chirwere ichi. Dzimwe fungidziro dzinoti chirwere ichi ndechimwe chete pavana 75,000 vanozvarwa . Chikonzero chefungidziro iyi ndechekuti vana vanogona kuva nezviratidzo zvishoma kana zvakakomba, havasi vana vese vane zviratidzo zvakafanana, uye hapana bvunzo imwe chete, inojekesa kuti chirwere chacho chii.

Vakuru vanewo here chirwere cheShwachman-Diamond (SDS)?

Kusiyana nemamwe matambudziko ehutano evana, chirwere cheShwachman-Diamond hachiperi vana vachikura. Zviratidzo nekurapwa zvinogona kuchinja nekufamba kwenguva, asi vana vane chirwere ichi vachada rubatsiro rwehutano rwehupenyu hwavo hwese .

Dambudziko iri rinokanganisa sei muviri wemwana wangu?

Chirwere cheShwachman-Diamond chinogona kukonzera matambudziko akawanda ehutano, asi pane migumisiro mikuru mitatu:

1. Kusakwana kweropa remudumbu:Pancreas yemwana wako inhengo iri kuseri kwedumbu. Ine rudzi rwesero rinonzi acinar cells. Masero aya anogadzira ma enzymes anobatsira kugaya chikafu. Ma enzymes aya anopwanya zvinovaka muviri nemafuta ari muchikafu kuitira kuti muviri ugone kuatora. Muvana vane SDS, pancreas haibudisi ma enzymes aya akakwana. Nekuda kweizvozvo, mwana haawani zvinovaka muviri zvaanoda.

2. Kusashanda zvakanaka kwemupfupa: Mupfupa wemwana wako unoburitsa masero matsvuku eropa, masero machena eropa, uye maplatelet. Muvana vane SDS, mupfupa unoburitsa masero mashoma pane akajairwa. Kunyanya, hauburitse mhando yakakwana yemasero machena eropa anonzi neutrophils . MaNeutrophils masero anowanzo dzivirira muviri kubva kuzvirwere zvakaita semabhakitiriya. Vamwe vana vane SDS havana ma neutrophils akakwana ekurwisa izvi zvirwere zvinopararira. Chirwere ichi chinonzi neutropenia . Vana vane neutropenia vanowanzo rwara nezvirwere zvemabhakitiriya zvakaita sepneumonia, hutachiona hwenzeve dzepakati, kana hutachiona hweganda.

3. Kusarongeka kwemafupa: Vana vane SDS vanogona kunge vaine zvirwere zvakaita se scoliosis, kupfupika kwemapfupa mumaoko nemakumbo (chondrodysplasia), kana kuti chipfuva chakatetepa, chakaita sebhero (thoracic dystrophy).

Ndezvipi zvinetso zvinokonzerwa neShwachman-Diamond syndrome (SDS)?

Vanhu vane chirwere ichi vari panjodzi yakakura yekuva nemasero eropa asina kujairika (`(myelodysplasia)`) . Izvi zvinogona kuzopedzisira zvaita kenza yeropa inonzi `(acute myeloid leukemia)` .

Ndezvipi zviratidzo zveShwachman-Diamond syndrome (SDS)?

Chirwere ichi chinogona kukanganisa nhengo dzinoverengeka dzemuviri wemwana. Asi zviratidzo zvinonyanya kuitika zvinosanganisira pancreas, bone morrow, uye skeletal system. Vamwe vanhu vanogona kuona zviratidzo pakuzvarwa, panguva yehucheche, kana pahudiki. Vanhu vashoma vanogona kuona zviratidzo pahudiki.

Zviratidzo zvakajairika:

• Kukundikana kukura zvakanaka: Izvi zvinoreva kuti mwana wako haasi kuwedzera uremu. Kana aine chirwere cheSDS, izvi zvinogona kunge zvichikonzerwa nekusagaya zvakanaka kwemuviri.
• Kuneta: Mwana aneta anogona kunge achitsamwa uye aneta.
• Tsvina hombe, dzine mafuta, uye dzinonhuwa: Tsvina yemwana wako inogona kunge yakakura zvisingawanzoitiki, ine chitarisiko chemafuta, uye ine hwema husina kunaka.
• Kurwara kwakakomba kunowanzoitika: Kana utachiona hwemabhakitiriya hukaramba huchiitika, zvinogona kunge zviri chiratidzo cheSDS.
• Kuchinja kunooneka mumapfupa emaoko nemakumbo: Maoko nemakumbo evana anogona kunge mapfupi kana tichienzanisa nemuviri wavo.

Chii chinokonzera chirwere cheShwachman-Diamond (SDS)?

Vana vanosvika 90% vane SDS vane shanduko mujini re'SBDS' . Zvidzidzo zvakaratidza kuti shanduko iyi inogona kugarwa nhaka kubva kuvabereki vese (`(autosomal recessive manner)`) kana kubva kumubereki mumwe chete uye shanduko itsva inoitika. Vaongorori vachiri kusaziva kuti nei shanduko mujini re'SBDS' dzichikonzera SDS.

Vanachiremba vanoongorora sei chirwere ichi?

Vanachiremba vachaongorora hutano hwemwana wenyu. Vachayera hurefu nehuremu hwemwana wenyu vozvienzanisa nekukura kwevamwe vana vezera rake. Vanogonawo kuita bvunzo dzinotevera:

• Kuverengwa kweropa rose (CBC) nekusiyana: Izvi zvinoverenga masero eropa emwana, kunyanya masero ese machena eropa.
• Kuongororwa kwebasa repancreas: Vanachiremba vanogona kuongorora tsvina yemwana wenyu kana kuita bvunzo dzemifananidzo dzakadai se computed tomography (CT) scans.
• Kuongororwa kweropa kuti uone huwandu hwemavhitamini.
• X-ray: MaX-ray anogona kutorwa kuti aone kana paine matambudziko emapfupa, kunyanya muhudyu kana makumbo emwana.
• Kuongororwa kwemajini: Kuti vaone kushanduka kwemajini kunokonzera SDS, vanachiremba vanoongorora sampuli dzeropa remwana, ganda, bvudzi, kana nyama kuti vaone kana mwana wacho aine chirwere ichi.

Dambudziko iri rinorapwa sei?

Chirwere cheShwachman-Diamond chinogona kukanganisa mwana wako nenzira dzakawanda. Semuenzaniso, mwana anogona kusakwanisa kugaya chikafu nekuda kwematambudziko epancreas, asi munyu wake unogona kushanda zvakanaka. Zviratidzo zvinogona kunge zviri zvishoma kana zvakanyanya. Vanachiremba vanorapa shanduko idzi zvichienderana nekuoma kwechirwere chacho.

Kune pancreatic exocrine insufficiency:

Vanachiremba vanogona kunyora ma enzymes epancreas kana mavhitamini anonyunguduka mafuta kuti vabatsire muviri wemwana wenyu kunwa zvinovaka muviri nemafuta.

Kana paine kutadza kushanda zvakanaka kwemumongo wemapfupa:

Nekuti chirwere ichi chinokanganisa mapfupa emwana, mapfupa haabudisi ma neutrophils akakwana. Vanachiremba havawanzo rapa zvirwere zvemapfupa kunze kwekunge mwana aine matambudziko akakomba. Kurapa kunogona kusanganisira:

• Kuwedzerwa ropa: Kunowedzera huwandu hwemasero eropa.
• Kuwedzerwa ropa mumaplatelet: Kunowedzera huwandu hwemaplatelet kubatsira nematambudziko ekubuda ropa.
• Granulocyte-colony stimulating factor (G-CSF) : Kurapa uku kunowedzera huwandu hwema neutrophils mumasero machena eropa remwana.
• Kuisirwa masero eropa: Vamwe vanhu vane SDS vanowana kenza yeropa kana matambudziko eropa akakomba. Vanachiremba vanogona kurapa matambudziko aya nekuisirwa masero eropa.

Kune kusashanda zvakanaka kwehurongwa hwemapfupa:

Vanachiremba vanowanzo tarisa matambudziko emapfupa anokonzerwa neSDS. Vamwe vana vangada kuvhiyiwa mapfupa kana vaine matambudziko akakomba.

Ndivanaani vanachiremba vanorapa chirwere ichi?

Chikwata chenyanzvi chinodiwa kurapa chirwere cheShwachman-Diamond. Chikwata chekurapa mwana wako chinogona kusanganisira:

• Vanachiremba vevana: Vanachiremba ava vanorapa vacheche, vana, nevakuru vechidiki. Chiremba wevana vemwana wenyu angangokurudzira kuongororwa kuti aone kana SDS iripo.
• Nyanzvi dzeEndocrinologists: Ava vanhu vane ruzivo muhurongwa hweendocrine, izvo zvinokanganisa kukura kwemwana.
• Vanachiremba veropa: Ava vanhu vanonyanya kubata zvirwere zveropa, kusanganisira zvirwere zvinokanganisa masero eropa emwana.
• Vanachiremba vezvekudya: Vanachiremba ava vanogona kubatsira kurapa matambudziko ekugaya kwemwana wenyu.
• Nyanzvi dzezvemajini: Chirwere cheShwachman-Diamond chirwere chinokonzerwa nemajini. Vanachiremba ava, kana kuti vapi vemazano ezvemajini, vacharonga kuongororwa kwemajini kuti vasimbise mamiriro emwana wenyu. Vanogonawo kukuyedzai iwe nevamwe vehama dzeropa dzemwana wenyu.
• Nyanzvi dzemapfupa: Kana mwana wako aine matambudziko emapfupa anoda kuvhiyiwa, uchafanira kuona nyanzvi yemapfupa.

Ndingadzivirira izvi here?

Chirwere cheShwachman-Diamond chirwere chinogara nhaka . Kana uchiziva kuti une chirwere ichi, zvakanaka kutaura nenyanzvi yezvemajini. Kana uine vana vane chirwere ichi, ungangoda kufunga nezvekuongorora majini kuti uone kana vana vako vane gene mutation inokonzera SDS.

Ko chirwere cheShwachman-Diamond syndrome (SDS) chinogona kurapwa zvachose here?

Vanachiremba havagone kurapa chirwere ichi zvachose. Kana mwana wako aine chirwere ichi, achada rubatsiro rwechiremba kweupenyu hwake hwese.

Zvakaita sei kurarama neShwachman-Diamond syndrome (SDS)?

Neimwe nzira, chirwere cheShwachman-Diamond chirwere chisingaperi . Kana mwana wako aine chirwere ichi, anofanira kuongororwa nguva nenguva.

• Kuverengwa kweropa rose (CBC) uye kuverengwa kwemasero machena eropa, kuverengwa kwemaplatelet: Vanachiremba vanogona kuita bvunzo idzi mwedzi mitatu kusvika mitanhatu yega yega.
• Kuongororwa kwemapfupa: Vanachiremba veropa vanogona kuita bvunzo idzi kamwe chete pagore kana kamwe chete mumakore matatu ega ega.
• Kuongororwa kweropa kwevhitamini: Vanachiremba vanogona kuyera huwandu hwevhitamini muropa remwana kuti vaone kana kurapa kwepancreas enzyme kuri kushanda.
• Kuyera mapfupa: Vanachiremba vanogona kuongorora kuwanda kwemapfupa vasati vasvika pazera rekuyaruka uye panguva yekuyaruka.
• X-ray: X-ray inogona kuitwa kuti mwana wako aone kana paine matambudziko muhudyu nemabvi, kunyanya panguva yekukura nekukurumidza.
• Kuongororwa kwekukura: Vamwe vana vane SDS vanogona kunge vaine matambudziko ekukura, akadai sekusagadzikana kwepfungwa (ADD). Vanachiremba vanogona kuongorora kukura kwemwedzi mitanhatu yega yega kubva pakuzvarwa kusvika pazera remakore matanhatu, uye kukura kwemwedzi mitanhatu yega yega.
• Kuongororwa kwepfungwa nepfungwa: SDS inogona kutungamira kuzvirwere zvakaita sekusagadzikana kwepfungwa (ADD) kana kusagadzikana kwepfungwa kwakapararira (PDD). Vanachiremba vanogona kukurudzira kuongororwa nguva dzose pazera remakore 6-8, 11-13, uye 15-17.

Ndingabatsira sei mwana wangu kuti atsungirire mamiriro ezvinhu aya?

Vana vane chirwere ichi vanogona kunge vaine matambudziko akasiyana-siyana ehutano. Vangangoda kurapwa kuti vabatsirwe kunwa zvinovaka muviri nemafuta. Vane mukana wekutapukirwa nezvirwere. Vangangovewo vane matambudziko emapfupa anoita kuti vataridzike vakasiyana nevamwe.

Chero zviratidzo zviripi, vana vane chirwere ichi vanogona kunge vaine dambudziko rakafanana - kuti vakasiyana nevamwe . Vangangoda kurapwa kunovadzivisa kuenda kuchikoro nezvimwe zviitiko. Chitarisiko chavo chinogona kuchinja. Sezvo mwana wako achikura, shanduko idzi dzinogona kumuita kuti atsamwe uye agumbuke. Kunzwisisa manzwiro aya kunogona kubatsira mwana wako kudzora manzwiro ake. Vamwe vana vanogona kubatsirwa nekutaura nenyanzvi yehutano hwepfungwa. Kana uchinetseka kuti mwana wako ari kurarama sei nechirwere chake, bvunza chiremba wako kuti akupe mazano.

Ndinofanira kuona chiremba rini?

Kana mwana wako aine chirwere cheShwachman-Diamond, unofanira kuedza kuziva nezvekuchinja kwemuviri wemwana wako . Zviratidzo zveSDS zvinowanzochinja nekufamba kwenguva. Mune zvimwe zviitiko, shanduko idzi dzinogona kuva zviratidzo zvematambudziko akakomba, kusanganisira kenza yeropa.

Miviri yevana iri kuchinja nguva dzose pavanenge vachipfuura nemuhucheche, muhudiki, mukuyaruka (kunyanya kuyaruka nekuyaruka), uye muhudiki. Kuchinja uku hakusi nguva dzose chiratidzo chechirwere chitsva kana chirwere chakakomba.

Mwana wenyu anogara achionekwa nachiremba.Kusangana ikoko nguva nenguva ndiyo nguva yakanakisisa yekuti ubvunze mibvunzo nezvekuchinja kunogona kuva zviratidzo zvedambudziko rakakura.

Mibvunzo ipi yandinofanira kubvunza chiremba wangu?

Chirwere cheShwachman-Diamond chirwere chisingawanzoitiki. Ungasatomboziva kuti unacho. Heano mimwe mibvunzo yaunogona kubvunza chiremba wako:

• Sei mwana wangu aine chirwere ichi?
• Ane chirwere ichi chisina kunyanya kuoma here kana kuti chakanyanya kuoma?
• Dambudziko iri rinokanganisa sei mwana wangu?
• Ndezvipi zviri kurapwa?
• Zviratidzo zvemwana wangu zvichawedzera here?
• Vamwe vanun'una vemwana wangu vanofanira kuongororwa majini here?
• Ini nemumwe mubereki wemwana tinofanira kuongororwa majini here?
• Ndingabatsira sei mwana wangu kuti arapwe?

Chekupedzisira, chinhu chinonyanya kukosha (Mharidzo Yekuenda Kumba)

Chirwere cheShwachman-Diamond chirwere chisingawanzoitiki, chinogara nhaka chinokanganisa kukura kwevana, kubatwa nehutachiona hwemabhakitiriya, uye kusashanda zvakanaka kwemapfupa. Kunyange zvazvo vamwe vana vaine zviratidzo zvishoma, vana vese vane chirwere ichi vachada rubatsiro rwehutano rwehupenyu hwavo hwese. Kana mwana wako aine chirwere cheShwachman-Diamond, unganzwa wakaremerwa nekusava nechokwadi nezveramangwana. Kana uri mumamiriro ezvinhu aya, taurirana navanachiremba vemwana wako zvinokunetsa. Vanonzwisisa kuti zvakaita sei kunetseka nekutarisira mwana ane chirwere chakakomba, dzimwe nguva chisingatarisirwi. Vanogona kubatsira mwana wako kwete kungotsungirira chirwere chete, asiwo kumubatsira kurarama zvakanaka. Uye vanofara kukubatsira kubatsira mwana wako. Usambonzwa uri wega, uye kumbira rubatsiro.

` Shwachman-Diamond syndrome, SDS, kusarongeka kwemajini, pancreas, bone morrow, kusarongeka kwemapfupa, zvirwere zvevana, neutropenia