Kodi mwana wanu ali ndi zizindikiro zachilendo izi? Tiyeni tikambirane za matenda a Hurler.

Muyenera kukhala ndi nkhawa nthawi zonse ndi kukula ndi khalidwe la mwana wanu, eti? Nthawi zina, ndi zachilendo kumva mantha pang'ono zinthu zikayenda monga momwe mumayembekezera. Lero tikambirana za vuto losowa koma lofunika kwambiri lomwe muyenera kudziwa. Limatchedwa Hurler Syndrome. Mwina simunamvepo za dzinali kale. Koma ndikofunikira kudziwa za dzinali, makamaka ngati wina m'banja mwanu wakhalapo ndi vutoli.

Kodi matenda a Hurler ndi chiyani? Tiyeni timvetse mosavuta!

Chabwino, tiyeni choyamba tiwone chomwe Hurler Syndrome ili. Mwachidule, ndi matenda osowa kwambiri a majini. Amaonedwa kuti ndi mtundu woopsa kwambiri wa matenda otchedwa Mucopolysaccharidosis type 1 (MPS 1). Shuga wina wovuta m'thupi lathu, makamaka glycosaminoglycans (yomwe kale inkatchedwa mucopolysaccharides), amafunika enzyme yapadera kuti iwaswe ndikuchotsa m'thupi. Munthu amene ali ndi Hurler Syndrome sapanga enzyme iyi, kapena saipanga pang'ono.

Tangoganizirani, chimachitika ndi chiyani ngati chosonkhanitsira zinyalala m'nyumba mwathu sichikugwira ntchito bwino? Zinyalala zimaunjikana, sichoncho? Umu ndi momwe zimakhalira. Pamene enzyme iyi ikusowa, shuga amenewo amasonkhana m'ziwalo za thupi zotchedwa `(lysosomes)` mkati mwa maselo. `(lysosomes)` awa ali ngati 'malo oyeretsera' ang'onoang'ono m'maselo athu. Kenako, shuga amenewo amasonkhana m'maselo amenewa, ndipo amadzaza ngati mulu wa zinyalala. Izi zimatchedwanso `(lysosome storage condition)`. Izi zikachitika, maselo sangathe kugwira ntchito bwino, ndipo nthawi zina maselo amafa. Ichi ndichifukwa chake zizindikiro za matenda a Hurler zimawonekera.

Matendawa angayambitse matenda m'mafupa ndi m'malo olumikizirana mafupa, mawonekedwe osiyana a nkhope, mavuto a kukula kwa nzeru, matenda a mtima, mavuto a m'mapapo, komanso kukula kwa chiwindi ndi ndulu . Ngati izi zitachitika mwa mwana, zizindikirozo zitha kukhala zoopsa kwa moyo, ndipo mwatsoka, nthawi ya moyo ikhoza kuchepetsedwa.

Kodi palinso chiyani chomwe chili mu gulu ili lotchedwa MPS I?

Tanena kale kuti matenda a Hurler ndi oopsa kwambiri pa gulu la `(MPS I)`. Pali mitundu ina iwiri mu gulu la `(MPS I)` ili.

• Matenda a Hurler - Uwu ndiye mtundu woopsa kwambiri womwe tikukamba.
• Hurler-Scheie syndrome - Iyi ndi mtundu wa kuuma pang'ono.
• Scheie syndrome - Iyi ndi mtundu wovuta kwambiri wa gululi.

Mitundu itatu iyi ili ngati madigiri osiyanasiyana a matenda omwewo. Monga yofatsa komanso yoopsa kwambiri. Madokotala nthawi zambiri amatchula mitundu iwiri yosaopsa kwambiri kuti "MPS I yochepetsedwa".

Kusiyana kwakukulu pakati pa mitundu iyi ndi nthawi yomwe zizindikiro zimayamba, liwiro la matendawa, komanso momwe nzeru zimakhudzira. Mu matenda a Hurler, zizindikiro nthawi zambiri zimawonekera nthawi yochepa atangobadwa.Zimakhudzanso kwambiri kukula kwa nzeru. Mu mitundu ina ya `(MPS I yochepetsedwa)`, zizindikiro sizingawonekere mpaka zaka zisanu ndi chimodzi kapena zisanu ndi ziwiri. Komanso, zotsatira pa nzeru sizili zoopsa kwambiri monga momwe zimakhalira ndi matenda a Hurler. Chifukwa chake, anthu omwe ali ndi `(MPS I yochepetsedwa)` amatha kukhala ndi moyo wabwinobwino.

Ndani angadwale matenda a Hurler?

Uku ndi kusintha kwa majini komwe kungakhudze mwana aliyense. Komabe, ngati wina m'banja mwanu wakhala ndi matenda a Mucopolysaccharidosis type I, mwana wanu ali pachiwopsezo chachikulu chotenga matendawa. Izi si zomwe mayiyo adachita panthawi ya mimba.

Kodi vutoli ndi lofala bwanji?

Matenda a Hurler ndi matenda osowa kwambiri. Akuti amakhudza pafupifupi mwana m'modzi mwa ana 100,000 obadwa kumene. Amuna ndi akazi onse ali ndi mwayi wofanana wodwala matendawa. Mtundu wa MPS I wosaopsa kwambiri, womwe watchulidwa kale, umakhudza pafupifupi mwana m'modzi mwa ana 500,000 obadwa kumene.

Kodi matenda a Hurler amakhudza bwanji thupi la mwana?

Matendawa amakhudza mbali zambiri za thupi la mwana lomwe likukula. Zizindikiro zina zakuthupi zomwe zimadza chifukwa cha matendawa ndi zapadera. Mwachitsanzo:

• Mutu ndi waukulu kuposa wamba.
• Maso okhala ndi mitambo ndi pamene gawo loyera la diso (cornea) lozungulira mphete yakuda ya diso likuwoneka ngati la mitambo.
• Mawonekedwe apadera a nkhope: zinthu monga mtunda wokulirapo pakati pa maso, mphumi yokulirapo, mlatho wa mphuno wophwanyika, ndi milomo yokulirapo.
• Zimakhudzanso momwe mafupa amakulira, zomwe zingapangitse kuti kutalika kwa mwana kuchepe (kupuma movutikira).

Kuwonjezera pa zizindikiro zakunja izi, zimakhudzanso ziwalo zamkati mwa thupi. Makamaka mtima ndi mapapo. Chifukwa cha izi, mwana amatha kudwala matenda a m'khutu pafupipafupi, matenda a sinus, ndi matenda a m'mapapo. Nthawi zina, makina angafunike kuti athandize kupuma, ndipo opaleshoni ingafunike kukonza kuwonongeka kwa ziwalo.

Zizindikiro za matenda a Hurler zingakhale zoopsa kwambiri. Komabe, ngati matendawa apezeka ndi kuchiritsidwa msanga, nthawi ya moyo wa mwana ikhoza kuwonjezeka.

Ngati mukukonzekera kutenga pakati mtsogolo, ndi bwino kumvetsetsa zoopsa za matenda obadwa nawowa, kulankhula ndi dokotala wanu, ndikuphunzira za kuyezetsa majini.

Kodi zizindikiro za matenda a Hurler ndi ziti?

Zizindikiro za matendawa zimatha kusiyana malinga ndi munthu, ndipo zimatha kusiyana malinga ndi kuopsa kwake. Zizindikiro nthawi zambiri zimayamba ali mwana. Chimodzi mwa zizindikiro zazikulu zomwe zimasiyanitsa izi ndi mitundu ina ya MPS I ndikuti zimasonyeza kuchedwa kwa kukula kwa nzeru kumayambiriro kwa moyo ndipo pang'onopang'ono zimachepa mu luso lophunzira ndi kukumbukira pakapita nthawi.Mu mitundu yofatsa ya MPS I, nzeru nthawi zambiri sizimakhudzidwa kwambiri.

Nazi zizindikiro zina za matenda a Hurler:

• Mavuto a valavu ya mtima, kufooka kwa minofu ya mtima (cardiomyopathy)
• Kutaya kumva kapena kutayika kwathunthu kwa kumva
• Kusonkhanitsa madzi a m'mitsempha ya ubongo (hydrocephalus) kuzungulira ubongo
• Kukulitsa ziwalo ndi minofu yolumikizirana, monga chiwindi, ndulu, matoni, ndi minofu
• Mavuto a maso, mwachitsanzo, kuthamanga kwa magazi m'maso (glaucoma)
• Mavuto a mafupa (kuuma kwa mafupa, matenda a carpal tunnel, matenda a mafupa)
• Matenda opatsirana pafupipafupi, kupuma movutikira, komanso kupuma movutikira
• Hernias (matumphuka m'mimba kapena m'chifuwa)

Zinthu zooneka kunja

Mu chaka choyamba cha mwana wanu, mungayambe kuona zizindikiro izi zakunja:

• Kutalika kwaufupi
• Dysostosis ( kusakhazikika bwino kwa mafupa )
• Kupindika kwa msana wakumtunda (monga hunchback) (thoracic-lumbar kyphosis)
• Kumera tsitsi kwambiri m'thupi, makamaka pankhope ndi kumbuyo

Kodi chifukwa chake ndi chiyani?

Chifukwa chachikulu cha matenda a Hurler ndi kusintha kwa majini otchedwa `IDUA`. Jini la `IDUA` ili ndi lomwe limapereka malangizo opangira `(lysosomal enzymes)` lomwe tidalankhula kale. Kumbukirani, enzyme iyi imaphwanya zinyalala (shuga) mkati mwa maselo. Kenako, jini la `IDUA` ili likapanda kugwira ntchito bwino, enzyme imeneyo siipangidwa mokwanira. Zotsatira zake, zinyalalazo zimasonkhana mkati mwa maselo, ndipo maselo amafa kapena sagwira ntchito bwino. Ichi ndichifukwa chake zizindikiro za matenda a Hurler zimawonekera.

Kodi izi zimachokera bwanji ku mibadwomibadwo?

Imeneyi ndi matenda obadwa nawo, kutanthauza kuti amapatsirana kuchokera kwa kholo kupita kwa mwana. Amalandira cholowa m'njira yoti mwana alandire cholowa m'thupi. Mwachidule, kuti mwana akhale ndi vutoli, ayenera kulandira jini ya `IDUA` yolakwika kuchokera kwa mayi ndi bambo. Ngati kholo limodzi lokha lilandira jini yolakwika, mwanayo sadzadwala matendawa. Komabe, mwanayo akhoza kukhala 'wonyamula' matendawa. Izi zikutanthauza kuti ngakhale atakhala kuti alibe zizindikiro, akhoza kupatsira jiniyo kwa ana awo.

Kodi matenda a Hurler amawapeza bwanji?

Mwamwayi, pali mayeso omwe amatha kuzindikira vutoli mwana asanabadwe. Awa amatchedwa mayeso oyezera ana asanabadwe.

• Amniocentesis: Izi zimaphatikizapo kutenga chitsanzo cha madzi amniotic omwe akuzungulira khanda ndikuyesa.
• Kuyesa magazi a chorionic villus: Izi zimaphatikizapo kutenga minofu yaying'ono kuchokera ku placenta ndikuyesa.

Mayeso onsewa angathandize kuona ngati pali zolakwika m'majini a mwana.

Mwana akabadwa, dokotala adzamufufuza mwanayo, kuyang'ana zizindikiro zake, ndikuchita mayeso a enzyme kuti atsimikizire matendawa. Adzafunsanso ngati pali aliyense m'banjamo amene wakhala ndi vutoli (mucopolysaccharidosis), chifukwa likhoza kukhala lobadwa nalo.

Nthawi zina, mayeso ena angachitike kuti atsimikizire matendawa. Mwachitsanzo:

• X-ray yowonera mafupa a mwana
• Echocardiogram (kujambula mtima)
• Kuyezetsa magazi ndi mkodzo

Kodi chithandizo cha izi ndi chiyani?

Chithandizo cha matenda a Hurler chimayang'ana kwambiri kupewa ndi kusamalira zizindikiro.

Mankhwala awiri akuluakulu omwe alipo pano ndi awa:

1. Chithandizo Chosintha Ma Enzyme (ERT): Izi zimaphatikizapo kupatsa thupi enzyme yomwe ikusowa. Enzyme iyi imatchedwa alpha L-iduronidase (dzina lodziwika bwino la aldurazyme). Izi zingathandize kupewa zizindikiro kuti zisakule kwambiri ndikuthetsa mavuto ena. Chithandizochi chimayamba matendawa akangopezeka. Ichi ndi chithandizo cha moyo wonse chomwe chimaperekedwa ngati jakisoni . Dokotala adzasankha kangati jakisoniyo, kutengera kuopsa kwa matendawa.

2. Kusamutsa Maselo Oyambira a Hematopoietic (HSCT): Uku ndi kusamutsa mafupa. Mankhwalawa nthawi zambiri amaperekedwa kwa ana osakwana zaka ziwiri (nthawi zina okulirapo, moyang'aniridwa ndi dokotala). Pa milandu yoopsa, angathandize kutalikitsa moyo, kupewa kufalikira kwa matendawa, kusunga luso la nzeru, komanso kuchepetsa zizindikiro zakuthupi. Izi zimaphatikizapo kusamutsa maselo oyambira omwe amapanga ma enzyme kuchokera ku mafupa a munthu wathanzi kupita kwa mwana.

Kuwonjezera pa mankhwala akuluakulu awa, palinso mankhwala ena oletsa zizindikiro:

• Opaleshoni: Opaleshoni ikhoza kuchitidwa kuti ikonze kapena kusintha ma valve a mtima, kuchotsa ma cataract ndikuyika lens yopangira (kulowa m'malo mwa cornea), kukonza zolakwika pakukula kwa mafupa, ndikukonzanso hernias.
• Mankhwala osiyanasiyana ochiritsira: physiotherapy, physiotherapy, speak therapy, etc.
• Ngati mukuvutika kupuma, gwiritsani ntchito chipangizo monga makina a CPAP.
• Ngati muli ndi vuto la kumva, gwiritsani ntchito zothandizira kumva.
• Mankhwala ochepetsa ululu kuti achepetse ululu womwe umabwera chifukwa cha zizindikiro.

Kodi pali zovuta zilizonse zomwe zingachitike chifukwa cha chithandizochi?

Nthawi zina, mavuto amatha kuchitika chifukwa cha mankhwala oletsa ululu omwe amaperekedwa panthawi ya opaleshoni, chifukwa ana awa amavutika kupuma ndipo mafinya a mafupa amachititsa kuti zikhale zovuta kuyika mzere wa IV.

Komanso, kuti mupindule kwambiri ndi mankhwala a ERT ndi HSCT, ndikofunikira kuyamba kuwagwiritsa ntchito pa nthawi yake. Kuchedwetsa chithandizo, makamaka ngati zizindikiro zokhudzana ndi kukula kwa nzeru zayamba kale, kungachepetse zotsatira zake. Chifukwa chake, musanayambe chithandizo cha mwana wanu, lankhulani ndi dokotala wanu za zotsatirapo zake kapena zovuta zomwe zingachitike.

Kodi pali njira yopewera vutoli kuti lisachitikire mwana?

Mwatsoka, matenda a Hurler ndi matenda a majini, kotero sangapewedwe. Komabe, ngati mukukonzekera kukhala ndi ana mtsogolo, ndi bwino kufunsa dokotala kuti akupatseni upangiri wa majini, ndipo ngati kuli kofunikira, kuyezetsa majini kuti mumvetse chiopsezo cha mwana wanu kukhala ndi vutoli.

Kodi chimachitika ndi chiyani ngati muli ndi mwana yemwe ali ndi matenda a Hurler?

Izi n’zomvetsa chisoni kwambiri kumva. Kuyembekezeka kwa ana omwe ali ndi matenda a Hurler sikwabwino kwenikweni. Chifukwa cha zizindikiro zoopsa za matendawa, makamaka zotsatira zake pa mtima ndi mapapo, nthawi yapakati ya moyo wa mwana ndi pafupifupi zaka 10. Komabe, ngati matendawa apezeka msanga ndipo mankhwala monga `HSCT` (kuika mafupa) ndi `ERT` (mankhwala a enzyme) ayambitsidwa, nthawi ya moyo ikhoza kukulitsidwa pang'ono.

Ana omwe ali ndi mtundu wapakati kapena wofatsa wa MPS I amatha kukhala ndi moyo mpaka zaka 20 ndi 30 akalandira chithandizo. Imfa yoyambirira nthawi zambiri imachitika chifukwa cha kulephera kupuma.

Koma kumbukirani, ngati matendawa ndi ochepa ndipo chithandizo chayamba msanga, mungathe kukhala ndi moyo wabwinobwino.

Kodi pali mankhwala athunthu a izi?

Mpaka pano, palibe mankhwala a Hurler syndrome. Komabe, mankhwala omwe alipo pano angathandize kwambiri kutalikitsa moyo ndikuchepetsa zizindikiro zomwe zingawononge moyo.

Kodi muyenera kupita ndi mwana wanu kwa dokotala liti?

Ngati mukuganiza kuti mwana wanu ali ndi zizindikiro za matenda a Hurler, makamaka ngati sakukwaniritsa zomwe amayembekezera malinga ndi msinkhu wake, kapena ngati akuoneka kuti akuvutika ndi masomphenya kapena kumva, pitani kwa dokotala wa mwana wanu nthawi yomweyo.

Zadzidzidzi! Ngati mwana wanu akuvutika kupuma, akumva ngati kugunda kwa mtima kwake sikukuyenda bwino, kapena akutaya chikumbumtima nthawi zambiri (izi zitha kukhala zizindikiro za matenda a mtima), mutengereni kuchipatala chapafupi nthawi yomweyo, kapena imbani 1990.

Ndi mafunso ati omwe muyenera kufunsa dokotala?

Mukazindikira kuti mwana wanu ali ndi vutoli, ndi zachilendo kukhala ndi mafunso ambiri. Funsani dokotala wanu za zinthu monga:

• Kodi chithandizo chabwino kwambiri cha matenda a mwana wanga ndi chiti kuti apewe zizindikiro?
• Kodi pali zotsatirapo zilizonse zoyipa zomwe zingabwere chifukwa cha mankhwala omwe mumalimbikitsa?
• Kodi mwana wanga ayenera kulandira jakisoni wolowa m'malo mwa ma enzyme kangati?

Kodi kusiyana pakati pa Hurler Syndrome ndi Hunter Syndrome ndi kotani?

Zonsezi ndi "mikhalidwe yosungiramo lysosomal." Ndiko kuti, matenda omwe zinyalala zimasonkhana mkati mwa maselo. Komabe, pali kusiyana pang'ono pakati pa ziwirizi:

• Hurler Syndrome: Iyi ndi mtundu woopsa kwambiri wa Mucopolysaccharidosis type I (MPS I). Pachifukwa ichi, enzyme ya m'thupi yotchedwa alpha-L-iduronidase imachepa.
• Matenda a Hunter: Uwu ndi matenda osautsa kwambiri monga matenda a Hurler. Ndi a gulu la Mucopolysaccharidosis type II (MPS II). Pankhaniyi, enzyme m'thupi yotchedwa iduronate-2-sulfatase (I2S) imachepa.

Pomaliza, zinthu zoti muzikumbukira

Kuzindikira matenda a Hurler Syndrome kungakhale kovuta kwa banja, makamaka ndi mafunso ambiri okhudza moyo wa mwana. Panthawi yovutayi, ndikofunikira kugwira ntchito limodzi ndi madokotala a mwana wanu komanso kudziwa bwino za matendawa ndi njira zochiritsira. Komanso, kumbukirani kuti simuli nokha. Funani thandizo kuchokera kwa abale, anzanu, ndi akatswiri azaumoyo omwe angakupatseni chitonthozo. Kuzindikira msanga ndi chithandizo choyenera kungathandize mwana wanu kukhala ndi moyo wabwino kwambiri.

Hurler Syndrome, matenda a majini, thanzi la ana, kusowa kwa ma enzyme, MPS 1, matenda a majini, matenda a ana, kusowa kwa ma enzyme, matenda a lysosomal, Hurler Syndrome, matenda a majini, thanzi la ana, kusowa kwa ma enzyme