Ngaba umntwana wakho omncinci unazo ezi mpawu zingaqhelekanga? Masithethe ngeHurler Syndrome.

Kufuneka uhlale uxhalabile malunga nokukhula nokuziphatha komntwana wakho, akunjalo? Ngamanye amaxesha, kuyinto eqhelekileyo ukuziva usoyika kancinci xa izinto zingahambi njengoko bekulindelwe. Namhlanje siza kuthetha ngesimo esingaqhelekanga kodwa esibaluleke kakhulu ekufuneka usiqaphele. Sibizwa ngokuba yiHurler Syndrome. Usenokuba awukaze uve ngeli gama ngaphambili. Kodwa kufanelekile ukuliqonda, ingakumbi ukuba kukho umntu kusapho lwakho okhe waba nale meko.

Yintoni iHurler Syndrome? Masiyiqonde ngokulula!

Kulungile, masiqale sijonge ukuba yintoni iHurler Syndrome. Ngamafutshane, yimeko engaqhelekanga yemfuza. Ithathwa njengolona hlobo lubi kakhulu lweqela lezifo ezibizwa ngokuba yiMucopolysaccharidosis type 1 (MPS 1). Ezinye zeeswekile ezintsonkothileyo emizimbeni yethu, ngakumbi iglycosaminoglycans (eyayisakuba yimucopolysaccharides), zifuna ienzyme ekhethekileyo ukuze ziqhekezwe kwaye zisuswe emzimbeni. Umntu oneHurler Syndrome akayivelisi le enzyme, okanye akayivelisi kangako.

Khawucinge nje, kwenzeka ntoni ukuba umqokeleli wenkunkuma endlwini yethu awusebenzi kakuhle? Inkunkuma iyaqokelelana, akunjalo? Yiyo loo nto. Xa le enzyme ingekho, ezo swekile ziqokelelana kwiindawo zomzimba ezibizwa ngokuba yi-`(lysosomes)` ngaphakathi kweeseli. Ezi `(lysosomes)` zifana 'neendawo zokucoca' ezincinci kwiiseli zethu. Emva koko, ezo swekile ziqokelelana kwezi, zize zizaliseke njengenqwaba yenkunkuma. Oku kukwabizwa ngokuba yi-`(lysosomal storage condition)`. Xa oku kusenzeka, iiseli azikwazi ukusebenza kakuhle, kwaye ngamanye amaxesha iiseli ziyafa. Yiyo loo nto iimpawu zeHurler syndrome zivela.

Le meko inokubangela iingxaki emathanjeni nasemalungeni, iimpawu zobuso ezahlukileyo, iingxaki zophuhliso lwengqondo, isifo sentliziyo, iingxaki zemiphunga, kunye nokwanda kwesibindi kunye ne-spleen . Ukuba oku kwenzeka emntwaneni, iimpawu zinokuba yingozi ebomini, kwaye ngelishwa, ixesha lokuphila linokuncipha.

Yintoni enye ekweli candelo ebizwa ngokuba yi-MPS I?

Sitshilo ngaphambili ukuba i-Hurler syndrome yeyona imbi kakhulu kwiqela le-`(MPS I)`. Kukho ezinye iintlobo ezimbini kweli qela le-`(MPS I)`.

• I-Hurler syndrome - Olu lolona hlobo lunzima kakhulu esithetha ngalo.
• I-Hurler-Scheie syndrome - Olu luhlobo lobunzima obuphakathi.
• Isifo seScheie - Olu lolona hlobo lubi kakhulu kweli qela.

Ezi ntlobo zintathu zifana namanqanaba ahlukeneyo esifo esinye. Zifana nezincinci nezinzima ngakumbi. Oogqirha badla ngokubiza ezi ntlobo zimbini zingabi nzima kangako ngokuthi "i-MPS I encitshisiweyo".

Umahluko omkhulu phakathi kwezi ntlobo lixesha lokuqala kweempawu, isantya sesifo, kunye nempembelelo kwingqondo. Kwi-Hurler syndrome, iimpawu zihlala zibonakala emva nje kokuzalwa.Ikwanempembelelo enkulu kuphuhliso lwengqondo. Kwezinye iintlobo ze-`(i-MPS enciphileyo I)`, iimpawu zisenokungabonakali de kube yiminyaka emithandathu okanye esixhenxe ubudala. Kwakhona, impembelelo kwingqondo ayibi nkulu njengakwi-Hurler syndrome. Ke ngoko, abantu abane-`(i-MPS enciphileyo I)` banokuphila ubomi obuqhelekileyo.

Ngubani onokuba neHurler Syndrome?

Olu lutshintsho lwemfuza olunokuchaphazela nawuphi na umntwana. Nangona kunjalo, ukuba kukho umntu kusapho lwakho oye waba neMucopolysaccharidosis type I, umntwana wakho usemngciphekweni omkhulu wokufumana esi sifo. Oku akuyonto umama ayenzileyo ngexesha lokukhulelwa.

Ixhaphake kangakanani le meko?

I-Hurler Syndrome yimeko engaqhelekanga. Kuqikelelwa ukuba ichaphazela malunga ne-1 kwi-100,000 yeentsana ezisandul’ ukuzalwa. Amadoda nabafazi banamathuba afanayo okuba nayo. Uhlobo lwe-MPS I olungenzima kangako, olukhankanyiweyo ngaphambili, luchaphazela malunga ne-1 kwi-500,000 yeentsana ezisandul’ ukuzalwa.

I-Hurler Syndrome iyichaphazela njani umzimba womntwana?

Le meko ichaphazela iinkalo ezininzi zomzimba womntwana okhulayo. Ezinye zeempawu zomzimba ezibangelwa yile meko zichaphazela ngqo le meko. Umzekelo:

• Intloko inkulu kunesiqhelo.
• Amehlo afipheleyo abonakala ngathi anombala omhlophe weliso (i-cornea) ojikeleze indandatho emnyama yeliso.
• Iimpawu zobuso: Umgama okhulayo phakathi kwamehlo, ibunzi elikhulu, ibhulorho yempumlo ethe tyaba, imilebe emikhulu, njl.
• Ikwachaphazela indlela amathambo akhula ngayo, nto leyo enokubangela ukuba ubude bomntwana bunciphe (ukuphefumla kancinci).

Ukongeza kwezi mpawu zangaphandle, ikwachaphazela amalungu angaphakathi omzimba. Ingakumbi intliziyo nemiphunga. Ngenxa yoku, umntwana unokufumana izifo zendlebe rhoqo, izifo ze-sinus, kunye nosulelo lwemiphunga. Ngamanye amaxesha, oomatshini banokufuneka ukunceda ekuphefumleni, kwaye utyando lunokufuneka ukulungisa umonakalo kumalungu omzimba.

Iimpawu zesifo sikaHurler zingasongela ubomi. Nangona kunjalo, ukuba isifo sifunyenwe kwaye sinyangwa kwangethuba, ixesha lokusinda komntwana linokwandiswa.

Ukuba uceba ukukhulelwa kwixesha elizayo, kungcono ukuqonda iingozi zezi meko zizuzwe njengelifa, uthethe nogqirha wakho, kwaye ufunde ngovavanyo lwemfuza.

Zithini iimpawu zeHurler Syndrome?

Iimpawu zesi sifo zingahluka kumntu nomntu, kwaye zingahluka ngobukhulu. Iimpawu zihlala ziqala ebuntwaneni. Enye yeempawu eziphambili ezahlula oku kwezinye iintlobo ze-MPS I kukuba ibonisa ukulibaziseka ekuphuhlisweni kwengqondo kwasebuntwaneni kwaye ngokuthe ngcembe iyancipha kwizakhono zokufunda nokukhumbula ngokuhamba kwexesha.Kwiintlobo ze-MPS I ezibuthathaka, ubukrelekrele abusoloko buchaphazeleka kakhulu.

Nazi ezinye iimpawu ze-Hurler syndrome:

• Iingxaki zevalvu yentliziyo, ukuba buthathaka kwemisipha yentliziyo (i-cardiomyopathy)
• Ukulahlekelwa kukuva okanye ukulahlekelwa ngokupheleleyo kukuva
• Ukuqokelelana kolwelo lwe-cerebrospinal olujikeleze ubuchopho (i-hydrocephalus)
• Ukwanda kwamalungu omzimba kunye nezicubu ezidityanisiweyo, ezifana nesibindi, i-spleen, iitoni, kunye nemisipha
• Iingxaki zokubona, umzekelo, uxinzelelo lwamehlo oluphezulu (i-glaucoma)
• Iingxaki zamalungu (ukuqina kwamalungu, isifo se-carpal tunnel, izifo zamalungu)
• Iintsholongwane zokuphefumla rhoqo, i-sleep apnea, ubunzima bokuphefumla
• I-Hernias (iqhuma esiswini okanye emqolo)

Iimpawu ezibonakalayo ngaphandle

Ngonyaka wokuqala womntwana wakho, usenokuqala ukubona ezi mpawu zangaphandle:

• Ubude obufutshane
• I-Dysostosis ( ukulungelelaniswa okungafanelekanga kwamathambo )
• Ukugoba phambili komqolo ongasentla (njengesithundu) (i-thoracic-lumbar kyphosis)
• Ukukhula kweenwele ngokugqithisileyo emzimbeni, ingakumbi ebusweni nasemqolo

Yintoni isizathu soku?

Eyona nto ibangela iHurler syndrome kukuguquka kwejini ebizwa ngokuba yi-'IDUA'. Le jini ye-'IDUA' yiyo enika imiyalelo yokwenza i-'(lysosomal enzymes)' ebesithethe ngayo ngaphambili. Khumbula, le enzyme iqhekeza imveliso yenkunkuma (ezo swekile) ngaphakathi kweeseli. Emva koko, xa le jini ye-'IDUA' ingasebenzi kakuhle, loo enzyme ayiveliswanga ngobuninzi obaneleyo. Ngenxa yoko, loo mveliso yenkunkuma iqokelelana ngaphakathi kweeseli, kwaye iiseli ziyafa okanye zingasebenzi kakuhle. Yiyo loo nto iimpawu zeHurler syndrome zibonakala.

Oku kuvela njani kwizizukulwana ngezizukulwana?

Le yimeko yelifa, oko kuthetha ukuba idluliselwa kumzali ukuya emntwaneni. Idluliselwa ngendlela ye-autosomal recessive. Ngamafutshane, ukuze umntwana abe nale meko, umntwana kufuneka afumane i-gene enesiphako ethi `IDUA` evela kumama nakutata. Ukuba ngumzali omnye kuphela ofumana i-gene enesiphako, umntwana akayi kuba nesifo. Nangona kunjalo, loo mntwana unokuba 'ngumthwali' wesifo. Oku kuthetha ukuba nokuba abanazo iimpawu, banokudlulisela i-gene kubantwana babo.

Ifunyanwa njani iHurler Syndrome?

Ngethamsanqa, kukho iimvavanyo ezinokubona le meko ngaphambi kokuba umntwana azalwe. Ezi zibizwa ngokuba zii-prenatal screening tests.

• I-Amniocentesis: Oku kuquka ukuthatha isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana kwaye uluvavanye.
• Ukuthathwa kwesampuli ye-Chorionic villus: Oku kuquka ukuthatha iqhekeza elincinci lesicwili kwi-placenta size silivavanye.

Zombini ezi mvavanyo zinokujonga ukuba azikho na iingxaki kwi-DNA yomntwana.

Emva kokuba umntwana ezelwe, ugqirha uza kumhlola umntwana, ajonge iimpawu, aze enze uvavanyo lomsebenzi wee-enzyme ukuqinisekisa isifo. Baza kubuza nokuba kukho nabani na kusapho lwakhe okhe waba nale meko (mucopolysaccharidosis), kuba inokuba yimfuza.

Ngamanye amaxesha, kunokwenziwa uvavanyo olongezelelweyo ukuqinisekisa ukuxilongwa. Umzekelo:

• I-X-ray yokujonga amathambo omntwana
• I-echocardiogram (ukuskena kwentliziyo)
• Uvavanyo lwegazi nomchamo

Luluphi unyango lwale nto?

Unyango lwe-Hurler syndrome lugxile kakhulu ekuthinteleni nasekulawuleni iimpawu.

Iindlela ezimbini eziphambili zonyango ezikhoyo ngoku zezi:

1. Unyango Lokutshintshwa Kwe-Enzyme (ERT): Oku kuquka ukunika umzimba i-enzyme engekhoyo. Le enzyme ibizwa ngokuba yi-alpha L-iduronidase (igama lebrendi elithi aldurazyme). Oku kunokunceda ukuthintela iimpawu ukuba zingabi mandundu kwaye kubuyisele ezinye iingxaki. Olu nyango luqalwa kwangoko nje ukuba isifo sifunyenwe. Olu lunyango oluhlala ubomi bonke olunikwa njengenaliti . Ugqirha uya kugqiba ukuba inaliti kufuneka inikwe kangaphi, kuxhomekeke kubunzima besifo.

2. Ukufakelwa kweeseli ze-Hematopoietic Stem Cell (HSCT): Olu lutyando nje lomongo wethambo. Olu nyango ludla ngokunikwa abantwana abangaphantsi kweminyaka emibini ubudala (ngamanye amaxesha abadala, phantsi kweliso likagqirha). Kwiimeko ezinzima, lunokunceda ukwandisa ubomi, luthintele ukusasazeka kwesi sifo, lugcine amandla okuqonda, kwaye lunciphise iimpawu zomzimba. Oku kubandakanya ukufakelwa kweeseli ze-stem ezivelisa ii-enzyme ezivela kumongo wethambo womntu onikelayo ophilileyo kumntwana.

Ukongeza kwezi ndlela zonyango ziphambili, kukho nezinye iindlela zonyango zokulawula iimpawu:

• Utyando: Utyando lunokwenziwa ukulungisa okanye ukutshintsha iivalvu zentliziyo, ukususa i-cataracts kunye nokufaka ilensi yokwenziwa (ukutshintshwa kwe-cornea), ukulungisa iingxaki zokukhula kwamathambo, kunye nokulungisa ii-hernias.
• Iindlela ezahlukeneyo zonyango: Unyango lomzimba, unyango lomsebenzi, unyango lokuthetha, njl.
• Ukuba unengxaki yokuphefumla, sebenzisa isixhobo esifana nomatshini we-CPAP.
• Ukuba unengxaki yokuva kakuhle, sebenzisa izixhobo zokuva.
• Izithomalalisi zentlungu ukunciphisa iintlungu ezibangelwa ziimpawu.

Ngaba kukho naziphi na iingxaki ezibangelwa lunyango?

Kwezinye iimeko, iingxaki zinokubakho ngenxa ye-anesthetic enikwa ngexesha lotyando, njengoko aba bantwana benengxaki yokuphefumla kwaye ukuqunjelwa kwamalungu kwenza kube nzima ukufaka umgca we-IV.

Kwakhona, ukuze ufumane okuninzi kunyango lwe-ERT kunye ne-HSCT, kubalulekile ukuqala unyango ngexesha. Ukulibazisa unyango, ingakumbi ukuba iimpawu ezinxulumene nophuhliso lwengqondo sele zibonakala, kunokunciphisa iziphumo. Ke ngoko, ngaphambi kokuba uqale unyango lomntwana wakho, thetha nogqirha wakho malunga nemiphumo emibi okanye iingxaki ezinokubakho.

Ngaba ikho indlela yokuthintela le meko ukuba ingenzeki kumntwana?

Ngelishwa, i-Hurler syndrome yimeko yemfuza, ngoko ke ayinakuthintelwa. Nangona kunjalo, ukuba uceba ukuba nabantwana kwixesha elizayo, kulungile ukubonana nogqirha ukuze ufumane iingcebiso ngemfuza, kwaye ukuba kuyimfuneko, uvavanyo lwemfuza ukuze uqonde umngcipheko wokuba umntwana wakho abe nale meko yemfuza.

Kwenzeka ntoni ukuba unomntwana oneHurler Syndrome?

Oku kuyadanisa ngokwenene ukuva. Isiganeko sokubikezela kwabantwana abane-Hurler syndrome asilunganga kangako. Ngenxa yeempawu eziqatha zesi sifo, ingakumbi iziphumo entliziyweni nasemiphungeni, ubomi obuqhelekileyo bomntwana bumalunga neminyaka eli-10. Nangona kunjalo, ukuba esi sifo sichongiwe kwangethuba kwaye unyango olufana ne-'HSCT' (ukufakelwa komongo wamathambo) kunye ne-'ERT' (unyango lwee-enzyme) luqalisiwe, ubomi obulindelekileyo bunokwandiswa kancinci.

Abantwana abane-MPS I ephakathi okanye engaphantsi banokuphila bade babe neminyaka engama-20 okanye engama-30 ubudala xa befumana unyango. Ukufa kwangethuba kudla ngokubangelwa kukungasebenzi kakuhle kokuphefumla.

Kodwa khumbula, ukuba isifo asibi kakhulu kwaye unyango luqalwe kwangethuba, usenokukwazi nokuphila ubomi obuqhelekileyo.

Ngaba ikho indlela epheleleyo yokunyanga oku?

Ukuza kuthi ga ngoku, akukho nyango lwe-Hurler syndrome. Nangona kunjalo, unyango lwangoku lunokunceda kakhulu ekwandiseni ubomi kwaye lunciphise iimpawu ezisongela ubomi.

Ufanele umse nini umntwana wakho kugqirha?

Ukuba ukrokrela ukuba umntwana wakho uneempawu ze-Hurler syndrome, ingakumbi ukuba akafikeleli kwinqanaba lokukhula njengoko kulindelekile kwiminyaka yakhe, okanye ukuba ubonakala enengxaki yokubona okanye yokuva, bonana nogqirha womntwana wakho ngoko nangoko.

Ingxamiseko! Ukuba umntwana wakho unengxaki yokuphefumla, uvakalelwa kukuba ukubetha kwentliziyo yakhe akulunganga, okanye ulahlekelwa zingqondo rhoqo (ezi zinokuba ziimpawu ze-cardiomyopathy), mse esibhedlele esikufutshane ngoko nangoko, okanye utsalele umnxeba ku-1990.

Yeyiphi imibuzo omele uyibuze ugqirha?

Xa ufumanisa ukuba umntwana wakho unale meko, kuyinto eqhelekileyo ukuba nemibuzo emininzi. Buza ugqirha wakho ngezinto ezifana nezi:

• Yeyiphi indlela engcono yonyango kwimeko yomntwana wam ukuthintela iimpawu?
• Ngaba kukho naziphi na iziphumo ebezingalindelekanga ezivela kunyango olucebisayo?
• Umntwana wam ufanele afumane kangaphi inaliti yonyango lokutshintshwa kweeenzyme?

Yintoni umahluko phakathi kweHurler Syndrome kunye neHunter Syndrome?

Zombini ezi "ziimeko zokugcina i-lysosomal." Oko kukuthi, izifo apho imveliso yenkunkuma iqokelelana ngaphakathi kwiiseli. Nangona kunjalo, kukho umahluko omncinci phakathi kwezi zimbini:

• I-Hurler Syndrome: Olu lolona hlobo lubi kakhulu lweMucopolysaccharidosis type I (MPS I). Kule meko, i-enzyme yomzimba ebizwa ngokuba yi-alpha-L-iduronidase iyancitshiswa.
• I-Hunter Syndrome: Le yimeko engembi kangako kune-Hurler Syndrome. Ikwiqela le-Mucopolysaccharidosis type II (MPS II). Kule meko, i-enzyme emzimbeni ebizwa ngokuba yi-iduronate-2-sulfatase (I2S) iyancitshiswa.

Okokugqibela, izinto ekufuneka uzikhumbule

Ukuxilongwa kweHurler Syndrome kunokuba nzima kusapho, ingakumbi ngemibuzo emininzi ephakamayo malunga nobomi bomntwana. Ngeli xesha linzima, kubalulekile ukusebenzisana ngokusondeleyo noogqirha bomntwana wakho kwaye ube nolwazi olufanelekileyo malunga nesifo kunye neendlela zonyango. Kwakhona, khumbula ukuba awuwedwa. Funa inkxaso kusapho, kubahlobo, nakwiingcali zezempilo ezinokukunika intuthuzelo. Ukuxilongwa kwangoko kunye nonyango olufanelekileyo kunokunceda umntwana wakho aphile ubomi obungcono kangangoko.

Isifo sikaHurler , isifo semfuza, impilo yomntwana, ukungabikho kwee-enzyme, i-MPS 1, isifo semfuza, izifo zobuntwana, ukungabikho kwee-enzyme, izifo ze-lysosomal, i-Hurler Syndrome, isifo semfuza, impilo yomntwana, ukungabikho kwee-enzyme