Wakaona here kunonoka kwekukura kana maitiro asina kujairika mumwana wako munguva pfupi yapfuura? Dzimwe nguva tinofunga nezveizvi sezvinhu zvakajairika zvinoitika kuvana pavanokura, asi zvinogona kuva zviratidzo zvekutanga zvechirwere chisingawanzoitiki chinonzi Sanfilippo Syndrome. Usavhunduke nezita racho. Chirwere chisingawanzoitiki. Asi zvakakosha kuti vabereki vazive nezvazvo. Saka, ngatitaure nezvazvo zvakajeka uye zviri nyore.
Chii chaizvo chinonzi Sanfilippo Syndrome?
Zvichitaurwa zviri nyore, ichi chirwere chisingawanzoitika mumajini chinokanganisa mashandiro emuviri wemwana uye kukura kwehuropi. Chinonziwo mucopolysaccharidosis type III.
Funga nezvemuviri wedu sefekitori hombe. Kuti fekitori iyi ishande zvakanaka, zvimwe zvinhu zvinoda kupwanywa, kuputswa, kucheneswa, uye kubviswa. Vashandi vadiki vanobatsira nebasa iri vanonzi ma enzymes . Mwana ane chirwere cheSanfilippo syndrome haana imwe yema enzymes aya akakosha.
Pasina iyi enzyme, molekyuru yeshuga inongoitika yoga inonzi heparan sulfate haiputsike zvakanaka uye haibviswi mumuviri. Asi, inotanga kuungana mukati memasero emuviri. Zvakafanana nemarara ari mufekitori asingacheneswi. Zvinhu izvi zvakaunganidzwa zvinochengetwa muzvikamu zviri mukati memasero zvinonzi lysosomes . Ndosaka chirwere ichi chichinziwo chirwere chekuchengetedza lysosomes .
Kana tsvina iyi yaungana, masero haagone kushanda zvakanaka. Nekufamba kwenguva, izvi zvinogona kukuvadza nhengo dzemuviri, kukanganisa kukura, kukonzera matambudziko ehunhu, uye kukuvadza zvakanyanya tsinga.
Chirwere ichi hachiwanzoitiki. Chinobata munhu mumwe chete pavana 70,000 vanozvarwa. Avhareji yehupenyu hwevana vane chirwere ichi iri pakati pemakore gumi kusvika makumi maviri. Zvisinei, kana mumwe munhu mumhuri akamborwara nechirwere ichi, mukana wekuti mwana awane chirwere ichi wakakwira.
Kune mhando dzakasiyana dzechirwere ichi here?
Ehe, kune mhando ina huru dzechirwere ichi. Kune mhando ina dzema enzymes anobatsira kuputsa heparan sulfate yatakambotaura nezvayo. Saka, rudzi rwechirwere runobva rwaonekwa kuti nderupi rwemhando ina idzi dzema enzymes rusina kukwana . Dzimwe mhando dzinogona kunge dzisina kunyanyisa kupfuura dzimwe.
| Rudzi rwechirwere | Pfungwa dzakakosha | Avhareji yehupenyu hunotarisirwa |
|---|---|---|
| Rudzi A | Rudzi rwakajairika uye rwakanyanya kuoma. Zviratidzo zvinoonekwa nekukurumidza. Mwana anogona kukurumidza kurasikirwa nekugona kufamba nekutaura. | Makore angangoita gumi nemashanu. |
| Rudzi B | Hazvinyanyi kuoma kupfuura rudzi rweA. Zviratidzo zvinokura zvishoma nezvishoma. | Anenge makore gumi nemapfumbamwe ekuberekwa. |
| Rudzi C | Rudzi rusingawanzoonekwi. Zviratidzo zvinokura zvishoma nezvishoma. Mano akadai sekufamba nekutaura anogara kwenguva refu. | Anenge makore makumi maviri nematatu ekuberekwa. |
| Rudzi D | Rudzi rusingawanzoonekwi. Zviratidzo zvinokura zvishoma nezvishoma. Pachine ruzivo rushoma nezveizvi. | Hazvigoneki kutaura chokwadi. |
Zvakakosha: Tarisiro yehupenyu iyi ingori yepakati chete. Mwana wese akasiyana. Saka, inogona kusiyana zvichienderana nemamiriro emwana mumwe nemumwe.
Ndezvipi zviratidzo zvechirwere ichi?
Zviratidzo zvepakutanga zvinowanzotanga kuonekwa pakati pekuzvarwa kusvika pazera remakore maviri. Zvisinei, dzimwe nguva vabereki vangasazviziva, kana kuti kunyange vanachiremba vanogona kuzvifungidzira sezvimwe zvirwere (semuenzaniso autism).
| Rudzi rwehunhu | Zviratidzo zvinowanzoonekwa |
|---|---|
| Zviratidzo Zvekutanga | |
| Kukura uye maitiro | Kunonoka kutaura nezvimwe zvinhu zvinokosha pakukura, maitiro akafanana neautistic, kushanda zvakanyanya, hutachiona hwenzeve ne sinus, matambudziko ekurara (kushaya hope/kumuka). |
| Hunhu hwemuviri | Chiso chinoratidzika zvakakora zvishoma (huma netsiye dzakabuda pachena, miromo yakazara nemhino), kukura kwebvudzi remuviri zvakanyanya (hirsutism), musoro wakakura kupfuura zvakajairika (macrocephaly), uye umbilical hernia. |
| Zvimwe | Kuzara kwenzira dzekufema dzinogara dziripo, manyoka anogara aripo. |
| Zviratidzo zveKunonoka | |
| Kudzikira kwehunyanzvi | Kudzikira kwesimba rekudzidza, kufunga, uye kuita mabasa, uye kurasikirwa nekugona kufamba, kutaura, kudya, uye kunzwa nekufamba kwenguva. |
| Kuchinja kwemuviri | Zviso zvinotanga kuoneka zvakanyanya, majoini akaomarara , uropi hunodzikira (brain abdominal), pfari, uye chiropa kana chirwatata chakakura. |
| Maitiro | Matambudziko emaitiro, kusanyanya kuita zvinhu, uye kusada kuita zvinhu nekukurumidza zvinotowedzera kuipa. |
Chitarisiko chakakosha chetsiye
Vabereki vanogona kuona shanduko dzechiso chevana vane chirwere ichi, kunyanya kana vari pamwe chete nevanin'ina vavo. Tsiye dzakakora uye dzakakura kupfuura zvakajairika.Chinhu chakakosha chechirwere ichi ndechekuti dzimwe nguva tsiye mbiri idzi dzinobatanidzwa, zvichiita kuti dziite sedzino rimwe chete riri pahuma. Chimiro ichi chinowedzera kuoneka mwana paanokura.
Nzira yekuziva sei chirwere ichi?
Nekuti chirwere ichi chisingawanzoitiki uye zviratidzo zvekutanga zvakafanana nezvimwe zvirwere, vanachiremba havawanzochiongorora pakutanga kwacho. Asi zvakakosha kuti mwana aongorore chirwere ichi nekukurumidza kuitira kuti awane rutsigiro nekurapwa kwaanoda.
Kana mwana wako akanonoka kukura, akaremara pakuzvarwa, uye zvimwe zvezviratidzo zvepakutanga zvatakurukura, chiremba wako anogona kukutumira kuti unoongororwa majini kana metabolic metabolic.
- Kuongororwa kweweti: Kuongororwa kwekutanga kunoitwa kweweti. Kana huwandu hweheparan sulfate muweti yemwana hwakakwira, chiratidzo chekuti Sanfilippo syndrome inogona kunge iripo.
- Kuongororwa kweropa: Kuongororwa kweropa kunoitwa kuti kusimbiswe chirwere. Izvi zvinotarisa kana basa re enzyme inodiwa riri shoma.
Kana muine zvinokunetsai nezvekukura kana maitiro emwana wenyu, musambotya moita sarudzo mega. Chinhu chakanakisa chekuita ndechekutaura nachiremba wevana nezvenyaya iyi.
Ndezvipi zviri kurapwa?
Zvinosuwisa kuti hapana mushonga weSanfilippo syndrome, saka chinangwa chikuru chevanachiremba ndechekupa rubatsiro rwekutsigira . Kureva, kudzora zviratidzo uye kupa mwana hupenyu hwakanaka kwenguva yakareba sezvinobvira.
Mishonga yakasiyana-siyana inoshandiswa pakurapa uku:
- Kurapa nemutauro wekutaura: Kunonoka kutaura chiratidzo chinowanzoitika. Nyanzvi yekutaura inobatsira mwana kutaurirana nemashoko nezviratidzo (semuenzaniso, makadhi emifananidzo).
- Kurapa nekudya: Sezvo chirwere ichi chichienderera mberi, kutsenga nekumedza zvinova zvakaoma. Nyanzvi yezvekudya ichagadzira nzira yekubatsira mwana kudya zvakachengeteka.
- Kurapa muviri: Kurapa uku kunobatsira mwana kufamba kwenguva yakareba sezvinobvira, kuramba akasimba, uye kuchengetedza kuenzana. Kana zvichidikanwa, kunogonawo kumubatsira kuwana michina yakaita sewiricheya.
- Kurapa Nemabasa: Kurapa uku kunobatsira kuchengetedza hunyanzvi hwekufamba zvakanaka kwemuviri, sekupfeka uye kubata matoyi, kwenguva yakareba sezvinobvira.
Pamusoro pezvo, kune mishonga yekuedza pasi rose, yakadai seEnzyme Replacement Therapy (ERT) uye Gene Therapy.
Iwe, iwe uri kutarisira mwana, unofanirawo kufunga nezvako.
Kuchengeta mwana ane chirwere chakadai chisingawanzoitiki ibasa guru. Uye kuzvipira kukuru. Zvakajairika kuti unzwe kuremerwa, kushushikana, kusuruvara, uye hasha panguva yerwendo urwu.
Hamufanirwe kufamba rwendo urwu muri mega. Nerutsigiro rwakakodzera uye ruzivo rwakakodzera, munogona kupa mwana wenyu rubatsiro rwakanakisisa.
Saka, usakanganwa kufunga nezvako pamwe nemwana wako.
- Kumbira rubatsiro kubva kune mumwe munhu waunovimba naye.
- Zvipe nguva yekuzorora zvishoma.
- Taura nezvemanzwiro ako nemhuri yako kana chiremba wako. Kana zvichidikanwa, tsvaga rubatsiro kubva kune anopa mazano ehutano hwepfungwa.
Yeuka kuti kuti upe mwana wako zvakanakisisa, unofanira kutanga wapora .
Mharidzo Yekuenda Nayo Kumba
- Sanfilippo Syndrome chirwere chisingawanzoitiki chinokanganisa nzira yekubvisa tsvina mumuviri.
- Zviratidzo zvepakutanga zvinosanganisira kunonoka kukura, matambudziko ekutaura, kusashanda zvakanaka, uye chimiro chechiso chinosiyana.
- Kunyangwe pasina mushonga chaiwo wechirwere ichi, nzira dzakasiyana-siyana dzekurapa dzinogona kudzora zviratidzo uye kupa mwana hupenyu hwakanaka.
- Kana muine kusava nechokwadi nezvekukura kwemwana wenyu, bvunzai chiremba wevana venyu nekukasika kuti akupei mazano.
- Sezvo kuri nyore kuchengeta mwana akadai, zvakakosha kuti iwe semubereki utarisirewo hutano hwako hwemuviri nehwepfungwa.
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