Ingabe ingane yakho inalezi zimpawu? Ake sifunde nge-Morquio Syndrome!

Uke waphawula muva nje noma yikuphi ukukhubazeka ekukhuleni kwengane yakho noma izinguquko emathanjeni ayo? Ngezinye izikhathi ungase ukhathazeke ngoba awukwazi ukuthola ukuthi ziyini lezi zinto. Namuhla sizokhuluma ngesinye isimo sezokwelapha esingavamile kodwa esibaluleke kakhulu. Leso yisimo esibizwa ngokuthi i-Morquio Syndrome.

Iyini i-Morquio Syndrome? Masiyiqonde kalula!

Kulungile, ake sibone ukuthi iyini i-Morquio Syndrome. Ibizwa nangokuthi i-Mucopolysaccharidosis IV (MPS IV). Kalula nje, yisimo sofuzo esithinta ukukhula kwamathambo ethu, futhi izimpawu ziyanda kancane kancane ngokuhamba kwesikhathi. "I-genetic" isho ukuthi yinto esiyizuza njengefa kubazali bethu.

Isizathu esiyinhloko salesi simo ukuthi imizimba yethu ayikwazi ukuphula kahle ama-molecule amakhulu kashukela abizwa ngokuthi ama-glycosaminoglycans (GAGs) (ngaphambili ayaziwa ngokuthi ama-mucopolysaccharides). Lokhu kwenzeka ngoba umzimba awunawo ama-enzyme anele okwenza umsebenzi. Cabanga ngala ma-enzyme njengezisebenzi ezincane emizimbeni yethu ezenza wonke umsebenzi. Uma engekho, ezinye izinto ngeke zisebenze kahle.

Yiziphi izinhlobo eziyinhloko ze-Morquio Syndrome?

Kunezinhlobo ezimbili eziyinhloko ze-Morquio syndrome. Nakuba izimpawu zazo zombili izinhlobo zifana kakhulu, izici zofuzo ezibangela lokhu zihlukile.

• Uhlobo A: Lokhu kubangelwa ukuntuleka kwe-enzyme i-N-acetyl-galactosamine-6-sulfatase (GALNS).
• Uhlobo B: Lokhu kubangelwa ukuntuleka kwe-enzyme i-beta-galactosidase (GLB1).

Njengoba ukwelashwa kwazo zombili izinhlobo kungahluka, kubaluleke kakhulu ukuhlonza ukuthi hlobo luni olunalo.

Sivame kangakanani lesi simo?

I-Morquio Syndrome empeleni iyisimo esingavamile. Ezweni elifana ne-United States, izibalo zibonisa ukuthi ithinta cishe umuntu oyedwa kubantu abangu-200,000 kuya ku-300,000. Kulaba, ama-95% kubikwa ukuthi angabantu abanesifo sohlobo A i-Morquio Syndrome.

Ziyini izimpawu ze-Morquio Syndrome?

Izimpawu ze-Morquio syndrome zivame ukuqala ukuvela ebuntwaneni kuya ebuntwaneni. Lezi zimpawu zivame ukwanda kancane kancane ngokuhamba kwesikhathi. Lezi zimpawu zithinta kakhulu uhlaka lwamathambo. Ake sibone ukuthi ziyini:

• Izici zobuso ziba nzima kancane.
• Amalunga aguquguqukayo.
• Ukukhubazeka ekukhuleni komgogodla, isifuba, izimbambo, izinqe, kanye nezihlakala. Cishe uke wabona ezinye izingane zigobile umgogodla. Izinto ezinjalo.
• Amadolo aguqile (genu valgum). Kubukeka sengathi amadolo agobile ngaphakathi.
• Ama-vertebrae omlomo wesibeletho awabekwa kahle. Lokhu kubizwa ngokuthi i-odontoid process anomaly.
• Ubude obufushane. Okusho ukuthi, ukungabi nobude obufanele iminyaka yakho.
• I-Scoliosis noma i-kyphosis.

Ngaphezu kwamathambo, lesi simo singathinta nezinye izingxenye zomzimba. Ezinye zezimpawu zifaka:

• Ukubona okufiphele kanye nokuncipha kokubona. Ngezinye izikhathi ingxenye emhlophe yeso, njenge-iris, ingase ibonakale ifiphele.
• Izinkinga zamazinyo ngenxa yokuncipha kwe-enamel yamazinyo.
• Isibindi esikhulu (i-hepatomegaly).
• Ukulahlekelwa ukuzwa kanye nokutheleleka njalo kwendlebe.
• Ukwenzeka kwama-hernia.
• Ubuhlungu ezindaweni lapho kukhona khona ukungajwayelekile ekukhuleni kwamathambo.
• Ukuhona kanye nokuphefumula okunzima ngesikhathi sokulala.
• Ukutheleleka okuvamile kwendlela yokuphefumula ephezulu.

Into ebaluleke kakhulu okufanele uyikhumbule ukuthi i-Morquio Syndrome ayithinti ukuhlakanipha kwengane.

Kodwa-ke, ezinye izimpawu ezinkulu zalesi simo zingaba yingozi empilweni. Lezi zifaka:

• Ukuvaleka komoya.
• Ukucindezela umgogodla kungabangela izimo ezifana nokukhubazeka.
• Ukuphazamiseka kwama-valve enhliziyo.

Yini ebangela i-Morquio Syndrome?

I-Morquio Syndrome nayo ibangelwa imbangela yofuzo. Lesi simo senzeka lapho ingane izuza izakhi zofuzo ezimbili (okungukuthi, kumama nakubaba) ku-gene ye-GALNS (uhlobo A), esixoxe ngayo ngaphambili, noma i-gene ye-GLB1 (uhlobo B).

Lezi zakhi zofuzo zikhiqiza ama-enzyme aphula ama-molecule kashukela abizwa ngokuthi ama-glycosaminoglycans (GAGs) esikhulume ngawo ngaphambili. Uma kukhona ukuguquka kwezakhi zofuzo, la ma-enzyme awatholi imiyalelo ayidingayo ukuze asebenze kahle. Okusho ukuthi, umsebenzi wawo uyancipha kakhulu, noma anyamalale ngokuphelele.

Kwenzekani-ke? Lawo ma-molecule kashukela (ama-GAG) aqala ukuqongelela ezindaweni ezingaphakathi kwamaseli abizwa ngokuthi ama-lysosome. Ama-Lysosome afana nezindawo ezingaphakathi kwamaseli lapho izinto ezingafuneki ziqhekeka khona futhi ziphinde zisetshenziswe. Yingakho i-Morquio Syndrome ibizwa nangokuthi yi-lysosomal storage disorder .

Nakuba lokhu kuqongelela kwama-molecule kashukela kuthinta izicubu nezitho zomzimba ezahlukahlukene, kuvame ukuthinta amathambo. Yingakho izimpawu zibonakala kakhulu emathanjeni.

Lesi simo singathinta bani?

I-Morquio Syndrome yisimo sofuzo esingathinta noma ubani. Sizuzwa kuphela uma i-gene ethintekile izuzwa kubazali bobabili (i-autosomal recessive inheritance).Lokhu kusho ukuthi ukuze ingane ibe nalesi simo, bobabili abazali kumele babe ngabathwali balesi sakhi sofuzo. Kodwa-ke, noma ngabe bangabathwali, abazali ngeke babonise lezi zimpawu.

Itholakala kanjani i-Morquio Syndrome?

Lesi simo sivame ukutholakala uma izimpawu zibonakala, okuwukuthi zisencane. Udokotela wengane yakho uzoqala enze ukuhlolwa ngokomzimba futhi angase acele i-X-ray ukuze abheke amathambo. Ngaphezu kwalokho, udokotela angase acele ezinye izivivinyo eziningana:

• Ukuhlolwa komchamo: Lokhu kuhlola amazinga aphezulu e-glycosaminoglycans emchameni wengane.
• Ukuhlolwa kwegazi: Lokhu kungahlonza isakhi sofuzo esibangela izimpawu futhi kubone ukuthi i-enzyme efanele isebenza kanjani emzimbeni.

Yiziphi izindlela zokwelapha i-Morquio Syndrome?

Ngokudabukisayo, ayikho ikhambi le-Morquio Syndrome. Kodwa-ke, kunezindlela zokwelapha ezahlukahlukene ezingasiza ukulawula izimpawu futhi zenze impilo yengane ibe lula. Ezinye zazo zifaka:

• Ukufakwa esikhundleni se-cornea - i-keratoplasty engena ngaphakathi.
• Ukwelashwa Kokufaka I-Enzyme (ERT) yohlobo lwe-Morquio syndrome A. Lokhu kuhilela ukunikeza i-enzyme entula ngaphandle.
• Ukwelashwa ngokomzimba: Lokhu kusiza ukuthuthukisa ukuhamba kwengane.
• Ukuhlinzwa: Kungenziwa ukuhlinzwa ukuze kukhululwe amathambo acindezelwe, kuqiniswe amathambo omgogodla kanye nomgogodla entanyeni, futhi kususwe ama-tonsils kanye nama-adenoids ukuze kuvulwe indlela yokuphefumula.
• Ukusebenzisa isihlalo sabakhubazekile noma amanye amadivayisi okusiza ukuhamba.
• Ukusetshenziswa kwezinsiza zokuzwa noma amapayipi okungenisa umoya.

Yini engingayilindela uma ingane yami ine-Morquio Syndrome?

Izimpawu ze-Morquio syndrome kungenzeka zingabi zimbi ekuqaleni. Kodwa-ke, kufanele ulindele ukuthi izimpawu ziyokhula kancane kancane njengoba ingane yakho ikhula. Kodwa ungakhathazeki, ukwelashwa kungasiza ingane yakho ukuthi ikhululeke kakhudlwana futhi kuvimbele imiphumela emibi nesongela impilo.

Ingakanani iminyaka yokuphila evamile yomuntu one-Morquio Syndrome?

Lo mbuzo unzima kakhulu ukuwuphendula. Isikhathi sokuphila somuntu one-Morquio Syndrome siyahlukahluka kuye ngokuthi lesi sifo sibucayi kangakanani.Umhlinzeki wezempilo wengane yakho uzokuchazela lokhu ngokusekelwe esimweni sengane yakho. Izimpawu ezinjengobunzima bokuphefumula kanye nokucindezelwa komgogodla yizinto eziyinhloko ezingaholela ekufeni kusenesikhathi.

Izingane ezinezimpawu ezinzima zingaphila kuze kube sebusheni. Lezo ezinezimpawu ezingatheni kangako zingaphila kuze kube sebusheni obuphakathi, mhlawumbe zize zibe sebusheni obungama-60.

Ingabe i-Morquio Syndrome ingavinjelwa?

I-Morquio Syndrome iyisimo sofuzo, ngakho-ke ayikho indlela yokusivimbela. Kodwa-ke, uma wena noma othile emndenini wakho enalesi simo sofuzo, noma uma ukhathazekile ngaso ngaphambi kokuba ube nomntwana, ungakhuluma nodokotela wakho mayelana nokwelulekwa ngofuzo kanye nokuhlolwa kofuzo. Lokhu kuzokusiza uqonde ingozi yakho yokuba nomntwana onesimo sofuzo.

Kufanele ngimbone nini udokotela?

Izimpawu ezithinta umgogodla kanye nomgudu wokuphefumula yizona ezingathi sína kakhulu. Ngakho-ke, kubalulekile ukunaka izinto ezinjalo ngokushesha. Uma ingane yakho inenkinga yokuphefumula, noma uma ikhombisa izimpawu zokukhubazeka, iya esibhedlela ngokushesha.

Hlala unake izimpawu zengane yakho, ikakhulukazi ngemva kokuhlinzwa, futhi uqaphele izimpawu zokutheleleka (isib. ubuhlungu, ukuvuvukala, ubomvu). Uma ubona noma yikuphi kwalokhu, bona udokotela wakho ngokushesha.

Yimiphi imibuzo okufanele ngiyibuze udokotela wami?

Kungumqondo omuhle ukubuza udokotela wengane yakho imibuzo efana nale:

• Ingabe ingane yami idinga ukwelashwa ngokomzimba ukuze ithuthukise ukuhamba kwayo?
• Ingabe ingane yami izodinga ukuhlinzwa ukuze kulungiswe izinkinga zokukhula kwamathambo?
• Hlobo luni lwe-Morquio Syndrome ingane yami enalo?
• Ingabe ingane yami kuzodingeka isebenzise isihlalo sabakhubazekile ukuze ihambe?

Okokugcina, izinto okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kungaba nzima kakhulu ukwazi ukuthi ingane yakho inesifo sofuzo esingafinyeza isikhathi sokuphila kwayo. Kuyaqondakala. Kufanele njalo unike ingane yakho uthando nokusekelwa okuningi. Ngenxa yokuthi lesi simo sithinta amathambo ayo, kungaba nzima ngayo ukuhamba nokudlala nezinye izingane ezingontanga yayo. Kodwa-ke, ukusebenzisa amadivayisi okusiza ukuhamba kunganikeza ingane yakho inkululeko ethile yokuhlanganyela emisebenzini yobuntwana.

Uma ubona ukuthi ingane yakho ilahlekelwa yizinyathelo zokukhula ezihlobene nokubona noma ukuzwa, tshela udokotela wakho ngokushesha. Lokhu kungasiza ekuvimbeleni ingane yakho ukuthi ingasali emsebenzini wesikole. Uma ingane yakho ibonisa izimpawu zobunzima bokuphefumula noma ukulahlekelwa ukwazi, iya esibhedlela ngokushesha.

Ukuphila nesimo esinjengalesi kuyinselele, kodwa iseluleko esifanele sezokwelapha, ukwelashwa, kanye nothando lwakho kuzoba amandla amakhulu enganeni yakho ukuze iphile impilo engcono kakhulu.

I- Morquio Syndrome, i-MPS IV, izifo zofuzo, ukuthuthukiswa kwamathambo, ama-enzyme, ama-glycosaminoglycans, izingane