Ingabe ingane yakho encane inalezi zimpawu ezingavamile? Ake sixoxe nge-Hurler Syndrome.

Kumelwe uhlale ukhathazekile ngokukhula nokuziphatha kwengane yakho encane, akunjalo? Ngezinye izikhathi, kuyinto evamile ukuzizwa wesaba kancane lapho izinto zingahambi njengoba kulindelekile. Namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu okufanele usiqaphele. Sibizwa ngokuthi i-Hurler Syndrome. Kungenzeka ukuthi awukaze uzwe ngaleli gama ngaphambili. Kodwa kufanelekile ukuqaphela, ikakhulukazi uma othile emndenini wakho eke waba nalesi simo.

Iyini i-Hurler Syndrome? Masiyiqonde kalula!

Kulungile, ake siqale sibheke ukuthi iyini i-Hurler Syndrome. Kalula nje, iyisimo esingavamile sofuzo. Sibhekwa njengohlobo olubi kakhulu lweqembu lezifo ezibizwa ngokuthi i-Mucopolysaccharidosis type 1 (MPS 1). Amanye amashukela ayinkimbinkimbi emizimbeni yethu, ikakhulukazi ama-glycosaminoglycans (ngaphambili ayebizwa ngokuthi ama-mucopolysaccharides), adinga i-enzyme ekhethekile ukuze iwahlukanise futhi iwasuse emzimbeni. Umuntu one-Hurler Syndrome akakhiqizi le enzyme, noma ayikhiqizi kakhulu.

Cabanga nje, kwenzekani uma umqoqi kadoti endlini yethu ungasebenzi kahle? Udoti uyanqwabelana, akunjalo? Yilokho okwenzekayo. Uma le enzyme ingekho, lawo shukela aqoqana ezingxenyeni zomzimba ezibizwa ngokuthi `(lysosomes)` ngaphakathi kwamaseli. Lawa `(lysosomes)` afana 'nezindawo zokuhlanza' ezincane emaselini ethu. Bese, lawo shukela aqoqana kulawa, futhi agcwala njengenqwaba kadoti. Lokhu kubizwa nangokuthi `(isimo sokugcina i-lysosomal)`. Uma lokhu kwenzeka, amaseli awakwazi ukusebenza kahle, futhi ngezinye izikhathi amaseli ayafa. Yingakho kuvela izimpawu ze-Hurler syndrome.

Lesi simo singabangela ukukhubazeka emathanjeni nasemalungeni, izici zobuso ezihlukile, izinkinga zokukhula kwengqondo, isifo senhliziyo, izinkinga zamaphaphu, kanye nokwanda kwesibindi kanye ne-spleen . Uma lokhu kwenzeka enganeni, izimpawu zingasongela impilo, futhi ngeshwa, isikhathi sokuphila singafinyezwa.

Yini enye ekhona kulesi sigaba ebizwa ngokuthi i-MPS I?

Sishilo ngaphambilini ukuthi i-Hurler syndrome iyona eyingozi kakhulu eqenjini le-`(MPS I)`. Kunezinye izinhlobo ezimbili kuleli qembu le-`(MPS I)`.

• I-Hurler syndrome - Lolu uhlobo olubi kakhulu esikhuluma ngalo.
• I-Hurler-Scheie syndrome - Lolu uhlobo lobunzima obuphakathi nendawo.
• I-Scheie syndrome - Lolu uhlobo olubi kakhulu lwaleli qembu.

Lezi zinhlobo ezintathu zifana namazinga ahlukene esifo esifanayo. Zifana nezincane nezinzima kakhulu. Odokotela bavame ukubiza izinhlobo ezimbili ezingabangeli zinkinga ngokuthi "i-MPS I encishisiwe".

Umehluko omkhulu phakathi kwalezi zinhlobo yisikhathi sokuqala kwezimpawu, isivinini sesifo, kanye nomthelela ekuhlakanipheni. Ku-Hurler syndrome, izimpawu zivame ukuvela ngokushesha ngemva kokuzalwa.Futhi kunomthelela omkhulu ekuthuthukisweni kwengqondo. Kwezinye izinhlobo ze-`(i-MPS encishisiwe I)`, izimpawu zingase zingaveli kuze kube yilapho umuntu eneminyaka eyisithupha noma eyisikhombisa ubudala. Futhi, umthelela ekuhlakanipheni awubi kakhulu njengase-Hurler syndrome. Ngakho-ke, abantu abane-`(i-MPS encishisiwe I)` bangaphila isikhathi esijwayelekile sokuphila.

Ubani ongaba ne-Hurler Syndrome?

Lokhu kungukuguquka kwezakhi zofuzo okungathinta noma yimuphi umntwana. Kodwa-ke, uma othile emndenini wakho eke waba ne-Mucopolysaccharidosis uhlobo I, ingane yakho isengozini enkulu yokuba nalesi simo. Lokhu akuyona into umama ayenza ngesikhathi sokukhulelwa.

Sivame kangakanani lesi simo?

I-Hurler Syndrome iyisimo esingavamile . Kulinganiselwa ukuthi sithinta cishe ingane eyodwa kweziyi-100,000 ezisanda kuzalwa. Abesilisa nabesifazane banamathuba afanayo okuyithola. Uhlobo lwe-MPS I olungaba lubi kakhulu, okukhulunywe ngalo ngaphambilini, luthinta cishe ingane eyodwa kweziyi-500,000 ezisanda kuzalwa.

I-Hurler Syndrome ithinta kanjani umzimba womntwana?

Lesi simo sithinta izici eziningi zomzimba womntwana okhulayo. Ezinye zezimpawu zomzimba eziba khona ziqondene ngqo nalesi simo. Isibonelo:

• Ikhanda likhulu kunejwayelekile.
• Amehlo aguqubele alapho ingxenye emhlophe yeso (i-cornea) ezungeze indandatho emnyama yeso ibonakala iguqubele.
• Izici zobuso: Ibanga elikhudlwana phakathi kwamehlo, ibunzi elikhulu, ibhuloho lempumulo eliyisicaba, izindebe ezikhulisiwe, njll.
• Kuphinde kuthinte indlela amathambo akhula ngayo, okungaholela ekwehleni kobude bomntwana (ukuphelelwa umoya).

Ngaphezu kwalezi zimpawu zangaphandle, kuthinta nezitho zangaphakathi zomzimba. Ikakhulukazi inhliziyo namaphaphu. Ngenxa yalokhu, umntwana angase athole izifo zendlebe njalo, izifo zama-sinus, kanye nezifo zamaphaphu. Ngezinye izikhathi, kungadingeka imishini ukusiza ngokuphefumula, futhi kungadingeka ukuhlinzwa ukulungisa umonakalo ezithweni zomzimba.

Izimpawu ze-Hurler syndrome zingaba yingozi empilweni. Kodwa-ke, uma lesi sifo sitholakala futhi selashwa kusenesikhathi, isikhathi sokusinda kwengane singandiswa.

Uma uhlela ukukhulelwa esikhathini esizayo, kuwumqondo omuhle ukuqonda izingozi zalezi zimo ezizuzwe njengefa, ukhulume nodokotela wakho, futhi ufunde ngokuhlolwa kwezakhi zofuzo.

Ziyini izimpawu ze-Hurler Syndrome?

Izimpawu zalesi sifo zingahluka kumuntu nomuntu, futhi zingahluka ngobukhulu. Izimpawu zivame ukuqala ebuntwaneni. Esinye sezici eziyinhloko ezihlukanisa lokhu kwezinye izinhlobo ze-MPS I ukuthi sibonisa ukubambezeleka ekuthuthukisweni kwengqondo ekuqaleni kokuphila futhi kancane kancane kunciphisa amakhono okufunda nokukhumbula ngokuhamba kwesikhathi.Ezinhlotsheni ze-MPS I ezingatheni kakhulu, ubuhlakani ngokuvamile abuthinteki kakhulu.

Nazi ezinye izimpawu ze-Hurler syndrome:

• Izinkinga zamavalvu enhliziyo, ubuthakathaka bemisipha yenhliziyo (i-cardiomyopathy)
• Ukulahlekelwa ukuzwa noma ukulahlekelwa ukuzwa ngokuphelele
• Ukuqongelela koketshezi lomgogodla oluzungeze ubuchopho (i-hydrocephalus)
• Ukwanda kwezitho zomzimba kanye nezicubu ezixhumeneyo, njengesibindi, ubende, amathonsi kanye nemisipha
• Izinkinga zokubona, isibonelo, ukwanda komfutho wamehlo (i-glaucoma)
• Izinkinga zamalunga (ukuqina kwamalunga, i-carpal tunnel syndrome, izifo zamalunga)
• Izifo zokuphefumula ezivame ukwenzeka, i-sleep apnea, ubunzima bokuphefumula
• I-Hernia (iqhuma esiswini noma embotsheni)

Izici ezibonakalayo ngaphandle

Ngonyaka wokuqala wengane yakho, ungase uqale ukubona lezi zimpawu zangaphandle:

• Ubude obufushane
• I-Dysostosis ( ukulungiswa okungafanele kwamathambo )
• Ukugoba phambili komhlane ongaphezulu (njenge-hunchback) (i-thoracic-lumbar kyphosis)
• Ukukhula kwezinwele ngokweqile emzimbeni, ikakhulukazi ebusweni nasemhlane

Iyini imbangela yalokhu?

Imbangela eyinhloko ye-Hurler syndrome ukuguquka kwezakhi zofuzo okubizwa ngokuthi i-'IDUA'. Le gene ye-'IDUA' yiyo enikeza imiyalelo yokwenza '(ama-enzyme e-lysosomal)' esikhulume ngawo ngaphambili. Khumbula, le enzyme iphula imikhiqizo engcolile (lawo shukela) ngaphakathi kwamaseli. Ngemuva kwalokho, lapho le gene ye-'IDUA' ingasebenzi kahle, leyo enzyme ayikhiqizwa ngobuningi obanele. Ngenxa yalokho, leyo mikhiqizo engcolile iqoqana ngaphakathi kwamaseli, futhi amaseli ayafa noma angasebenzi kahle. Yingakho kuvela izimpawu ze-Hurler syndrome.

Lokhu kuvela kanjani ezizukulwaneni ngezizukulwane?

Lesi yisimo esizuzwa njengefa, okusho ukuthi sidluliselwa kusuka kumzali kuya enganeni. Sizuzwa njengefa ngendlela yokubuyisa i-autosomal. Kalula nje, ukuze ingane ibe nalesi simo, ingane kumele izuze ifa le-'IDUA' elinokukhubazeka okuvela kumama nakubaba. Uma umzali oyedwa kuphela ezuza ifa le-'IDUA' elinokukhubazeka, ingane ngeke ithole lesi sifo. Kodwa-ke, leyo ngane ingaba 'ngumthwali' walesi sifo. Lokhu kusho ukuthi noma ingenazo izimpawu, ingadlulisela ifa le-'IDUA' ezinganeni zayo.

I-Hurler Syndrome ihlolwa kanjani?

Ngenhlanhla, kunezivivinyo ezingabona lesi simo ngaphambi kokuba umntwana azalwe. Lezi zibizwa ngokuthi izivivinyo zokuhlolwa kokukhulelwa.

• I-Amniocentesis: Lokhu kuhilela ukuthatha isampula encane yoketshezi lwe-amniotic oluzungeze umntwana bese luhlolwa.
• Ukuthatha isampula ye-Chorionic villus: Lokhu kuhilela ukuthatha ingxenye encane yezicubu ku-placenta bese uyihlola.

Zombili lezi zivivinyo zingahlola ukukhubazeka kwezakhi zofuzo ku-DNA yomntwana.

Ngemva kokuzalwa kwengane, udokotela uzohlola ingane, abheke izimpawu, bese enza ukuhlolwa komsebenzi we-enzyme ukuqinisekisa lesi sifo. Bazobuza nokuthi ngabe kukhona yini emndenini oke waba nalesi simo (mucopolysaccharidosis), ngoba singaba yisifo sofuzo.

Ngezinye izikhathi, kungase kwenziwe izivivinyo ezengeziwe ukuqinisekisa ukuxilongwa. Isibonelo:

• I-X-ray yokubheka amathambo engane
• I-echocardiogram (ukuskena kwenhliziyo)
• Ukuhlolwa kwegazi nomchamo

Iyini indlela yokwelapha lokhu?

Ukwelashwa kwe-Hurler syndrome kugxile kakhulu ekuvimbeleni nasekuphatheni izimpawu.

Izindlela ezimbili zokwelapha eziyinhloko ezitholakalayo njengamanje yilezi:

1. Ukwelashwa Kokufaka I-Enzyme Esikhundleni (ERT): Lokhu kuhilela ukunikeza umzimba i-enzyme engekho. I-enzyme ibizwa ngokuthi i-alpha L-iduronidase (igama lomkhiqizo i-aldurazyme). Lokhu kungasiza ekuvimbeleni izimpawu ukuthi zingabi zimbi kakhulu futhi kulungise ezinye izinkinga. Lokhu kwelashwa kuqala ngokushesha nje lapho isifo sitholakala. Lokhu ukwelashwa okuphila konke okunikezwa njengomjovo . Udokotela uzonquma ukuthi umjovo kufanele unikezwe kangaki, kuye ngokuthi isifo sibucayi kangakanani.

2. Ukufakelwa Kweseli Le-Hematopoietic Stem Cell (HSCT): Lokhu kumane kuwukufakelwa komnkantsha wethambo. Lokhu kwelashwa kuvame ukunikezwa izingane ezingaphansi kweminyaka emibili ubudala (ngezinye izikhathi ezindala, ngaphansi kokuqashwa ngudokotela). Ezimweni ezimbi kakhulu, kungasiza ekwandiseni impilo, kuvimbele ukusabalala kwesifo, kulondoloze amakhono obuhlakani, futhi kunciphise izimpawu zomzimba. Lokhu kuhilela ukufakelwa kwamaseli okuqala akhiqiza ama-enzyme emnkantsha wethambo lomuntu onikelayo onempilo aye enganeni.

Ngaphezu kwalezi zindlela zokwelapha eziyinhloko, kunezinye izindlela zokwelapha zokulawula izimpawu:

• Ukuhlinzwa: Ukuhlinzwa kungenziwa ukuze kulungiswe noma kufakwe ama-valve enhliziyo, kususwe ama-cataract bese kufakwa ilensi yokwenziwa (ukufakwa esikhundleni se-cornea), kulungiswe ukukhubazeka kokukhula kwamathambo, futhi kulungiswe ama-hernia.
• Izindlela zokwelapha ezahlukahlukene: Ukwelashwa ngokomzimba, ukwelashwa ngomsebenzi, ukwelashwa ngenkulumo, njll.
• Uma unenkinga yokuphefumula, sebenzisa idivayisi efana nomshini we-CPAP.
• Uma ungezwa kahle, sebenzisa izinsiza-kuzwa.
• Ama-painkiller ukunciphisa ubuhlungu obubangelwa yizimpawu.

Ingabe zikhona izinkinga ezibangelwa ukwelashwa?

Kwezinye izimo, izinkinga zingavela ngenxa yomuthi wokubulala izinzwa onikezwa ngesikhathi sokuhlinzwa, njengoba laba bantwana benenkinga yokuphefumula futhi ukugoqana kwamalunga kwenza kube nzima ukufaka umugqa we-IV.

Futhi, ukuze uthole okuningi ekwelashweni kwe-ERT kanye ne-HSCT, kubalulekile ukuqala ngesikhathi. Ukulibazisa ukwelashwa, ikakhulukazi uma izimpawu ezihlobene nokukhula kwengqondo sezivele zivele, kunganciphisa imiphumela. Ngakho-ke, ngaphambi kokuqala ukwelashwa kwengane yakho, khuluma nodokotela wakho ngemiphumela emibi engaba khona noma izinkinga.

Ingabe ikhona indlela yokuvimbela lesi simo ukuthi singamenzeli umntwana?

Ngeshwa, i-Hurler syndrome iyisimo sofuzo, ngakho-ke ayinakuvinjelwa. Kodwa-ke, uma uhlela ukuba nezingane esikhathini esizayo, kungumqondo omuhle ukubonana nodokotela ukuze uthole ukwelulekwa ngofuzo, futhi uma kudingeka, ukuhlolwa ngofuzo ukuze uqonde ingozi yokuba ingane yakho ibe nalesi simo sofuzo.

Kwenzekani uma unengane ene-Hurler Syndrome?

Lokhu kuyadabukisa ngempela ukuzwa. Ukubikezela kwezingane ezine-Hurler syndrome akukuhle kakhulu. Ngenxa yezimpawu ezinzima zalesi sifo, ikakhulukazi imiphumela enhliziyweni nasemaphashini, isilinganiso sokuphila kwengane singaba yiminyaka eyi-10. Kodwa-ke, uma lesi sifo sitholakala kusenesikhathi futhi ukwelashwa okufana ne-'HSCT' (ukufakelwa umnkantsha wamathambo) kanye ne-'ERT' (ukwelashwa ngama-enzyme) kuqala, isikhathi sokuphila singandiswa kancane.

Izingane ezinesimo esiphakathi noma esithambile se-MPS I zingaphila zize zibe neminyaka engama-20 noma engama-30 uma zelashwa. Ukufa kusenesikhathi kuvame ukubangelwa ukwehluleka kokuphefumula.

Kodwa khumbula, uma lesi sifo singabi sibi kakhulu futhi ukwelashwa kuqalwe kusenesikhathi, ungase ukwazi nokuphila impilo evamile.

Ingabe ikhona ikhambi eliphelele lalokhu?

Kuze kube manje, alikho ikhambi le-Hurler syndrome. Kodwa-ke, ukwelashwa kwamanje kungasiza kakhulu ekwandiseni impilo futhi kunciphise izimpawu ezisongela ukuphila.

Kufanele uyiyise nini ingane yakho kudokotela?

Uma usola ukuthi ingane yakho inezimpawu ze-Hurler syndrome, ikakhulukazi uma ingafinyeleli izigaba zokukhula njengoba kulindelekile ngokweminyaka yayo, noma uma ibonakala inenkinga yokubona noma yokuzwa, bheka udokotela wengane yakho ngokushesha.

Isimo Esiphuthumayo! Uma ingane yakho inenkinga yokuphefumula, izizwa sengathi ukushaya kwenhliziyo kwayo akuvamile, noma ilahlekelwa ukwazi njalo (lokhu kungaba izimpawu ze-cardiomyopathy), yiyise esibhedlela esiseduze ngokushesha, noma ushayele ucingo ku-1990.

Yimiphi imibuzo okufanele uyibuze udokotela?

Uma uthola ukuthi ingane yakho inalesi simo, kuvamile ukuba nemibuzo eminingi. Buza udokotela wakho ngezinto ezifana nalezi:

• Yikuphi ukwelashwa okungcono kakhulu kwesimo sengane yami ukuvimbela izimpawu?
• Ingabe ikhona imiphumela emibi evela ekwelashweni okuncomayo?
• Ingane yami kufanele ithole kangaki imijovo yokwelashwa ngokufaka ama-enzyme esikhundleni sayo?

Uyini umehluko phakathi kwe-Hurler Syndrome ne-Hunter Syndrome?

Zombili lezi "yizimo zokugcina i-lysosomal." Okusho ukuthi, izifo lapho imikhiqizo engcolile iqongelela khona ngaphakathi kwamaseli. Kodwa-ke, kunomehluko omncane phakathi kwalokhu okubili:

• I-Hurler Syndrome: Lolu uhlobo olubi kakhulu lwe-Mucopolysaccharidosis type I (MPS I). Kulokhu, i-enzyme yomzimba ebizwa ngokuthi i-alpha-L-iduronidase iyancishiswa.
• I-Hunter Syndrome: Lesi yisimo esingesibi kangako kune-Hurler Syndrome. Singeseqembu le-Mucopolysaccharidosis type II (MPS II). Kulokhu, i-enzyme emzimbeni ebizwa ngokuthi i-iduronate-2-sulfatase (I2S) iyancishiswa.

Okokugcina, izinto okufanele uzikhumbule

Ukuxilongwa kwe-Hurler Syndrome kungaba nzima emndenini ukubhekana nayo, ikakhulukazi ngemibuzo eminingi ephakamayo mayelana nokuphila kwengane. Phakathi nalesi sikhathi esinzima, kubalulekile ukusebenzisana eduze nodokotela bengane yakho futhi ube nolwazi oluphelele ngalesi sifo kanye nezinketho zokwelapha. Futhi, khumbula ukuthi awuwedwa. Funa ukwesekwa emndenini, kubangani, kanye nochwepheshe bezempilo abangakunikeza induduzo. Ukuxilongwa kusenesikhathi kanye nokwelashwa okufanele kungasiza ingane yakho iphile impilo engcono kakhulu.

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