Ngaba umntwana wakho unazo ezi mpawu? Masifunde ngeMorquio Syndrome!

Ngaba kutshanje uqaphele naziphi na iingxaki ekukhuleni komntwana wakho okanye naluphi na utshintsho emathanjeni akhe? Ngamanye amaxesha usenokuba nexhala kuba awukwazi ukuqonda ukuba zeziphi ezi zinto. Namhlanje siza kuthetha ngesinye sezifo ezingaqhelekanga kodwa ezibaluleke kakhulu. Leyo yimeko ebizwa ngokuba yiMorquio Syndrome.

Yintoni iMorquio Syndrome? Masiyiqonde ngokulula!

Kulungile, masibone ukuba yintoni iMorquio Syndrome. Ikwabizwa ngokuba yiMucopolysaccharidosis IV (MPS IV). Ngamafutshane, yimeko yemfuza echaphazela uphuhliso lwamathambo ethu, kwaye iimpawu ziyanda kancinci kancinci ngokuhamba kwexesha. Igama elithi "genetic" lithetha ukuba yinto esiyizuze njengelifa kubazali bethu.

Isizathu esiphambili sale meko kukuba imizimba yethu ayinakukwazi ukuqhekeza ngokufanelekileyo iimolekyuli ezinkulu zeswekile ezibizwa ngokuba yi-glycosaminoglycans (GAGs) (ezaziwa ngokuba yi-mucopolysaccharides). Oku kwenzeka kuba umzimba awunazo ii-enzymes ezaneleyo zokwenza umsebenzi. Cinga ngezi enzymes njengezisebenzi ezincinci emizimbeni yethu ezenza wonke umsebenzi. Ukuba azikho, ezinye izinto aziyi kusebenza kakuhle.

Ziziphi iintlobo eziphambili zeMorquio Syndrome?

Kukho iintlobo ezimbini eziphambili zeMorquio syndrome. Nangona iimpawu zazo zombini ezi ntlobo zifana kakhulu, izinto ezibangela ezo zifo zahlukile.

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

Ekubeni unyango lweentlobo zombini lunokwahluka, kubaluleke kakhulu ukuchonga uhlobo oluchanekileyo onalo.

Ixhaphake kangakanani le meko?

I-Morquio Syndrome yimeko engaqhelekanga. Kwilizwe elifana ne-United States, izibalo zibonisa ukuba ichaphazela malunga nomntu omnye kubantu abangama-200,000 ukuya kuma-300,000. Kulaba, ama-95% axelwa ukuba ngamatyala e-Type A Morquio Syndrome.

Zithini iimpawu zeMorquio Syndrome?

Iimpawu zesifo sikaMorquio zihlala ziqala ukubonakala ebuntwaneni ukuya ebuntwaneni. Ezi mpawu zihlala zikhula kancinci kancinci ngokuhamba kwexesha. Ezi mpawu zichaphazela kakhulu amathambo. Makhe sibone ukuba zeziphi:

• Iimpawu zobuso ziba nzima kancinci.
• Amalunga aguquguqukayo.
• Ukungaqheleki kophuhliso lomqolo, isifuba, iimbambo, isinqe, kunye nezandla. Mhlawumbi ukhe wababona abanye abantwana benomqolo ogobileyo. Izinto ezinjalo.
• Amadolo angqukuvayo (genu valgum). Kubonakala ngathi amadolo agobile ngaphakathi.
• I-vertebrae yomlomo wesibeleko ayibekwanga kakuhle. Oku kubizwa ngokuba yi-odontoid process anomaly.
• Ubude obufutshane. Oko kukuthi, ukungabi nobude obufanele iminyaka yakho.
• I-Scoliosis okanye i-kyphosis.

Ukongeza kwithambo, le meko inokuchaphazela nezinye iindawo zomzimba. Ezinye zeempawu ziquka:

• Ukubona okufipheleyo kunye nokubona okufipheleyo. Ngamanye amaxesha indawo emhlophe yeliso, njenge-iris, inokubonakala ifiphele.
• Iingxaki zamazinyo zenzeka ngenxa yokuncitshiswa kwe-enamel yamazinyo.
• Isibindi esikhulu (i-hepatomegaly).
• Ukulahlekelwa kukuva kunye nosulelo lwendlebe rhoqo.
• Ukwenzeka kwe-hernias.
• Intlungu kwiindawo apho kukho ukungaqheleki ekukhuleni kwamathambo.
• Ukurhona kunye nokuphelelwa ngamandla okuphefumla xa ulele.
• Usulelo oluqhelekileyo lwendlela yokuphefumla ephezulu.

Eyona nto ibalulekileyo ekufuneka uyikhumbule kukuba iMorquio Syndrome ayichaphazeli ingqondo yomntwana.

Nangona kunjalo, ezinye iimpawu ezinzulu zale meko zinokuba yingozi ebomini. Ezi ziquka:

• Ukuvaleka kwendlela yomoya.
• Ukucinezela umnqonqo kunokubangela iimeko ezifana nokukhubazeka.
• Ukungaqheleki kweevalvu zentliziyo.

Yintoni ebangela iMorquio Syndrome?

I-Morquio Syndrome ikwabangelwa yimbangela yemfuza. Le meko yenzeka xa umntwana efumana iinguqu ezimbini zemfuza (oko kukuthi, kumama nakutata) kwi-gene ye-GALNS (uhlobo A), esiyixubushileyo ngaphambili, okanye kwi-gene ye-GLB1 (uhlobo B).

Ezi jini zivelisa ii-enzymes eziqhekeza iimolekyuli zeswekile ezibizwa ngokuba yi-glycosaminoglycans (GAGs) esizikhankanyileyo ngaphambili. Xa kukho utshintsho kwiijini, ezi enzymes azifumani miyalelo eziyidingayo ukuze zisebenze kakuhle. Oko kukuthi, umsebenzi wazo uyancipha kakhulu, okanye ziyanyamalala ngokupheleleyo.

Kwenzeka ntoni emva koko? Ezo molekyuli zeswekile (ii-GAG) ziqala ukuqokelelana kwiindawo ezingaphakathi kweeseli ezibizwa ngokuba zii-lysosomes. Ii-Lysosomes zifana neendawo ezingaphakathi kweeseli apho izinto ezingafunekiyo ziqhekeka khona kwaye ziphinde zisetyenziswe. Yingakho i-Morquio Syndrome ikwabizwa ngokuba yi-lysosomal storage disorder .

Nangona olu qokelelo lweemolekyuli zeswekile luchaphazela izicubu ezahlukeneyo kunye namalungu omzimba, luchaphazela kakhulu amathambo. Yiyo loo nto iimpawu zibonakala kakhulu emathanjeni.

Ngubani onokuchaphazeleka yile meko?

I-Morquio Syndrome yimeko yemfuza enokuchaphazela nabani na. Ifunyanwa kuphela xa i-gene echaphazelekayo ifunyenwe kubazali bobabini (i-autosomal recessive inheritance).Oku kuthetha ukuba ukuze umntwana abe nale meko, bobabini abazali kufuneka babe ngabathwali bale jini. Nangona kunjalo, nokuba bangabathwali, abazali abayi kubonakalisa ezi mpawu.

Ifunyanwa njani iMorquio Syndrome?

Esi sifo sidla ngokufunyaniswa xa iimpawu zibonakala, nto leyo eyenzeka kwasebuntwaneni. Ugqirha womntwana wakho uya kuqala enze uvavanyo lomzimba aze acele i-X-ray ukuze ajonge amathambo. Ukongeza, ugqirha unokuyalela ezinye iimvavanyo ezininzi:

• Uvavanyo lomchamo: Olu vavanyo lujonga amanqanaba aphezulu e-glycosaminoglycans kumchamo womntwana.
• Uvavanyo lwegazi: Oku kunokuchonga i-gene ebangela iimpawu kwaye kubone indlela esebenza ngayo i-enzyme efanelekileyo emzimbeni.

Ziziphi iindlela zonyango lweMorquio Syndrome?

Okubuhlungu kukuba, akukho nyango lweMorquio Syndrome. Nangona kunjalo, kukho iindlela ezahlukeneyo zonyango ezinokunceda ukulawula iimpawu kwaye zenze ubomi bube lula emntwaneni. Ezinye zazo ziquka:

• Ukutshintshwa kwe-cornea - i-keratoplasty engena ngaphakathi.
• Unyango Lokutshintshwa Kwe-Enzyme (ERT) kwi-Morquio syndrome type A. Oku kuquka ukunika i-enzyme engasebenzi kakuhle ngaphandle.
• Unyango lomzimba: Oku kunceda ukuphucula ukuhambahamba komntwana.
• Utyando: Utyando lunokwenziwa ukuze kukhululwe amathambo acinezelweyo, kuzinziswe amathambo omqolo kunye nomqolo entanyeni, kwaye kususwe iitoni kunye nee-adenoids ukuze kuvulwe indlela yomoya.
• Ukusebenzisa isitulo esinamavili okanye ezinye izixhobo zokuncedisa ukuhamba.
• Ukusetyenziswa kwezinto zokuncedisa ukuva okanye iityhubhu zokungenisa umoya.

Yintoni endinokuyilindela ukuba umntwana wam uneMorquio Syndrome?

Iimpawu ze-Morquio syndrome zisenokungabi nzima ekuqaleni. Nangona kunjalo, kufuneka ulindele ukuba iimpawu ziya kwanda kancinci kancinci njengoko umntwana wakho ekhula. Kodwa ungakhathazeki, unyango lunokunceda umntwana wakho azive ekhululekile kwaye luthintele iziphumo ezinzulu nezisongela ubomi.

Ingakanani ixesha eliqhelekileyo lobomi lomntu one-Morquio Syndrome?

Lo ngumbuzo onzima kakhulu ukuwuphendula. Ubungakanani bobomi bomntu oneMorquio Syndrome buyahluka ngokuxhomekeke kubukhali besifo.Umboneleli wezempilo womntwana wakho uza kukuchazela oku ngokusekelwe kwimeko yomntwana wakho. Iimpawu ezinje ngobunzima bokuphefumla kunye nokucinezelwa komqolo zezona zinto ziphambili ezinokukhokelela ekufeni kwangoko.

Abantwana abaneempawu ezinzima banokuphila de babe sebutsheni. Abo baneempawu ezingabalulekanga kangako banokuphila de babe sebuntwini obuphakathi, mhlawumbi bade babe sebuntwini obungama-60.

Ngaba iMorquio Syndrome ingathintelwa?

I-Morquio Syndrome yimeko yemfuza, ngoko ke akukho ndlela yokuyithintela. Nangona kunjalo, ukuba wena okanye umntu kusapho lwakho unale meko yemfuza, okanye ukuba unenkxalabo ngayo ngaphambi kokuba ube nomntwana, ungathetha nogqirha wakho malunga neengcebiso zemfuza kunye novavanyo lwemfuza. Oku kuya kukunceda uqonde umngcipheko wokuba nomntwana onemeko yemfuza.

Ndifanele ndimbone nini ugqirha?

Iimpawu ezichaphazela umqolo kunye nendlela yokuphefumla zezona zimbi kakhulu. Ngoko ke, kubalulekile ukunikel’ ingqalelo kwizinto ezinjalo ngokukhawuleza. Ukuba umntwana wakho unengxaki yokuphefumla, okanye ukuba ubonisa iimpawu zokungakwazi ukuphefumula kakuhle, yiya esibhedlele ngokukhawuleza.

Soloko uqaphela iimpawu zomntwana wakho, ingakumbi emva kotyando, kwaye ujonge iimpawu zosulelo (umz., iintlungu, ukudumba, ubomvu). Ukuba ubona nayiphi na kwezi, bona ugqirha wakho ngoko nangoko.

Ndingayibuza yiphi imibuzo ugqirha wam?

Kungcono ukubuza ugqirha womntwana wakho imibuzo efana nale:

• Ngaba umntwana wam udinga unyango lomzimba ukuphucula ukuhamba kwakhe?
• Ngaba umntwana wam uza kufuna utyando ukuze kulungiswe iingxaki zokukhula kwamathambo?
• Luhlobo luni lweMorquio Syndrome umntwana wam analo?
• Ngaba umntwana wam uza kusebenzisa isitulo esinamavili ukuze ahambe?

Okokugqibela, izinto ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kunokuba nzima kakhulu ukwazi ukuba umntwana wakho unesifo semfuza esinokunciphisa ubomi bakhe. Kuyaqondakala. Kufuneka uhlale unika umntwana wakho uthando nenkxaso eninzi. Ngenxa yokuba esi sifo sichaphazela amathambo akhe, kunokuba nzima ukuba ahambe aze adlale nabanye abantwana abaneminyaka yabo. Nangona kunjalo, ukusebenzisa izixhobo zokuncedisa ukuhamba kunokunika umntwana wakho inkululeko yokuthatha inxaxheba kwimisebenzi yobuntwana.

Ukuba uqaphela ukuba umntwana wakho uphoswa ziindlela zokukhula ezinxulumene nokubona okanye ukuva, xelela ugqirha wakho ngoko nangoko. Oku kunokunceda ukuthintela umntwana wakho ukuba angaphumeleli emsebenzini wesikolo. Ukuba umntwana wakho ubonisa iimpawu zobunzima bokuphefumla okanye ukulahlekelwa zingqondo, yiya esibhedlele ngoko nangoko.

Ukuphila kwimeko efana nale yingxaki, kodwa ingcebiso efanelekileyo yezonyango, unyango, kunye nothando lwakho kuya kuba namandla amakhulu kumntwana wakho ukuze aphile ubomi obungcono kangangoko.

Isifo sikaMorquio , i-MPS IV, izifo zemfuza, uphuhliso lwamathambo, ii-enzymes, ii-glycosaminoglycans, abantwana