Ingaba umntwana wakho unazo ezi mpawu? Isenokuba yiHunter Syndrome!

Ngaba ukhe waphawula naluphi na ulibaziseko ekukhuleni komntwana wakho, okanye naluphi na utshintsho kwinkangeleko yakhe okanye kumalungu kutshanje? Ngamanye amaxesha, into ebangela ezo zinto isenokuba yimeko engaqhelekanga esingakayiva kangako. Namhlanje siza kuthetha ngemeko yemfuza ebizwa ngokuba yiHunter Syndrome. Musa ukoyika xa usiva oku, kuba eyona nto ibalulekileyo kukwazi.

Yintoni iHunter Syndrome? Masiyiqonde ngokulula!

Ngamafutshane, iHunter Syndrome sisifo esingaqhelekanga semfuza. Esi sisifo apho iimolekyuli ezithile zeswekile ezintsonkothileyo emzimbeni womntwana wakho (ezibizwa ngokuba yi-"Glycosaminoglycans" okanye "GAGs") zingaphulwa kwaye zigaywe ngokufanelekileyo. Kanye njengokuba inkunkuma emakhaya ethu iqokelelana ukuba asiyilahli ngokufanelekileyo, ezi molekyuli zeswekile ziqokelelana ngaphakathi kweeseli zomzimba, ngakumbi kwiindawo ezibizwa ngokuba yi-"Lysosomes". Ekuhambeni kwexesha, olu qokelelo luqala ukonakalisa amalungu kunye nezicubu ezahlukeneyo emzimbeni. Olu monakalo lunokuchaphazela ukukhula komzimba nengqondo yomntwana.

Oogqirha bahlula iHunter Syndrome kwiintlobo ezimbini eziphambili:

1. Uhlobo oluqatha: Olu luhlobo oluqatha ngakumbi olukhula ngokukhawuleza. Kwimeko enjalo, amandla omntwana okucinga nawo ayachaphazeleka. Rhoqo, phakathi kweminyaka emi-6 ne-8 ubudala, umntwana uqala ukuba nobunzima bokwenza imisebenzi yemihla ngemihla. Malunga nama-60% abantu abaneHunter Syndrome banalo olu hlobo luqatha.

2. Uhlobo olungephi: Iimpawu ziqala kancinci kancinci. Amandla okuqonda asenokungachaphazeleki kakhulu.

I-Hunter Syndrome ikwiqela elikhulu lezifo ezibizwa ngokuba yi-"Mucopolysaccharidoses." Ngenxa yoko, ikwabizwa ngokuba yi-"Mucopolysaccharidosis type II" okanye "MPS II".

Ixhaphake kangakanani iHunter Syndrome?

Esi sisifo esingaqhelekanga kakhulu. Kwakhona, sichaphazela kakhulu abafana. Ngokwezibalo, malunga nomnye kuphela kubafana abayi-100,000 ukuya kwi-170,000 ochaphazeleka sesi sifo. Nangona kunjalo, amantombazana angaba ngabathwali botshintsho lwezakhi zofuzo olubangela esi sifo. Oku kuthetha ukuba nokuba abanazo iimpawu, banokudlulisela esi sakhi sofuzo kubantwana babo.

Zithini iimpawu zomntwana oneHunter Syndrome?

Ezi mpawu zihlala ziqala ukubonakala kumntwana ophakathi kweminyaka emi-2 ne-4 ubudala. Iimpawu zingahluka ukusuka komnye umntu ukuya komnye, kwaye zinokuhluka nangobunzima. Makhe sijonge iimpawu eziphambili ezinokubonwa:

• Ukuqina kwamalungu, ubunzima bokugoba: Kusenokuvakala ngathi amalungu "anamathele".
• Ukutyeba kweempawu zobuso: Iindawo ezifana neempumlo, imilebe, nolwimi zinokuba nkulu kwaye zibonakale zirhabaxa kancinci.
• Ukuqaqanjelwa kwamazinyo kade okanye ukuba nezikhewu ezinkulu phakathi kwamazinyo.
• Intloko inkulu kunesiqhelo, isifuba sibanzi, kwaye intamo imfutshane.
• Ukulahlekelwa kukuva (ukulahlekelwa kukuva) okwanda kancinci kancinci ngokuhamba kwexesha.
• Ukulibaziseka kokukhula: Ukuphakama kunokuncipha, ingakumbi emva kweminyaka emi-5.
• Ukwanda kwepleyini nesibindi.
• Ukubonakala kwamaqhuqhuva amhlophe eluswini.

Kungcono ungoyiki xa ubona enye okanye ezimbini kwezi mpawu, kodwa ukuba umntwana wakho uyaqhubeka nokuba neempawu ezingaphezulu kwenye, kulungile ukufuna ingcebiso kagqirha.

Kutheni iHunter Syndrome isenzeka? Yintoni unobangela?

Isizathu esiphambili soku kukuguquka kwezakhi zofuzo kwi-gene ye-'IDS'. Le gene ye-'IDS' ilawula ukuveliswa kwe-enzyme ebizwa ngokuba yi-'(Iduronate 2-sulfatase)` okanye `(I2S)` emzimbeni wethu. Umsebenzi wale enzyme ye-'(I2S)` kukuqhekeza iimolekyuli zeswekile ezintsonkothileyo ezibizwa ngokuba yi-'(Glycosaminoglycans)` okanye `(GAGs)` esithethe ngazo ngaphambili.

Ngoko ke, kumntu one-Hunter syndrome `(MPS II)`, le enzyme `(I2S)` ayiveliswanga emzimbeni, okanye iveliswa ngamanani amancinci kakhulu. Ngenxa yokuba le enzyme ingekho, ezo molekyuli zeswekile `(GAGs)` ziqokelelana kwiindawo ezibizwa ngokuba yi`(Lysosomes)` ngaphakathi kweeseli. `(Lysosomes)` ziindawo ngaphakathi kweeseli eziqhekezayo kwaye ziphinde zisebenzise iimolekyuli ezingafunekiyo. Ngenxa yokuba `(GAGs)` ziqokelelana ngale ndlela, isifo `(MPS II)` sikweqela lezifo ezibizwa ngokuba yi`(Lysosomal storage disorder)`. Kungenxa yezi zinto ziqokelelanayo apho amalungu kunye nezicubu ezahlukeneyo zomzimba zonakaliswa khona.

Ngubani osengozini enkulu yokuphuhlisa oku?

Ukuba umntu kusapho, oko kukuthi, umntu onxulumene nebhayoloji, unesi sifo, umngcipheko wokuba abanye basosuleleke uphezulu.

Njengoko besitshilo ngaphambili, abafana banamathuba amaninzi okufumana esi sifo. Oku kungenxa yokuba esi sifo sidibene ne-chromosome X. Uyazi, amantombazana afumana ii-chromosome ezimbini ze-X, amakhwenkwe afumana i-chromosome enye ye-X kunye ne-chromosome enye ye-Y. Ngoko ke, nokuba intombazana ifumana i-chromosome ye-X kunye nale gene inesiphako, enye i-chromosome ye-X esempilweni inokubonelela nge-enzyme efunekayo. Ngoko ke basenokungabonakalisi zimpawu kwaye babe ngabathwali. Kodwa ukuba inkwenkwe ifumana i-chromosome ye-X kunye ne-gene enesiphako, iya kuba nesifo kuba ayinayo enye i-chromosome ye-X.

Ziziphi iingxaki ezinokubakho zeHunter Syndrome?

Ngokuxhomekeke kubunzima besi sifo, iingxaki ezahlukeneyo zinokwenzeka. Oogqirha basebenzisa amayeza kwaye ngamanye amaxesha bade batyande ukulawula ezi ngxaki. Makhe sibone ukuba zeziphi ezi ngxaki:

• Ubunzima bokuphefumla: Ubunzima bokuphefumla bunokwenzeka ngenxa yokuqina kwezicubu kunye nokuvaleka kweendlela zomoya.
• Isifo sentliziyo (`(Isifo sentliziyo)`).
• Ukungaqheleki kwamalungu kunye namathambo.
• Ukuhla kancinci kancinci ekusebenzeni kwengqondo.
• I-Carpal tunnel syndrome (`(i-Carpal tunnel syndrome)`): Imeko ebangelwa kukucinezelwa kwemithambo-luvo esihlahleni.
• IiHernias (`(IiHernias)`).
• Iimeko ezifana nesifo sokuwa (`(Ukuxhuzula)`).
• Iingxaki zokuziphatha.

Ezi ngxaki azenzeki ngendlela efanayo kuye wonke umntu. Zinokwahluka ngokuxhomekeke kwimeko yomntwana. Ngoko ke, kubalulekile ukuthetha nogqirha rhoqo kwaye uqaphele imeko yomntwana.

Uyazi njani ukuba uneHunter Syndrome?

Ugqirha womntwana wakho uza kwenza iimvavanyo ezininzi ukuqinisekisa ukuba unaso na esi sifo.

• Uvavanyo lomchamo: Olu vavanyo lujonga amanqanaba aphezulu ngokungaqhelekanga eemolekyuli zeswekile kumchamo (ezibizwa ngokuba zii-GAGs).
• Uvavanyo lwegazi: Oku kunokumisela ukuba umsebenzi we-enzyme `(I2S)` egazini uphantsi okanye awukho. Olu luphawu oluphambili lwesifo.
• Uvavanyo lwemfuza: Oku kuqinisekisa ukuba kukho utshintsho kwimfuza ethile ye-IDS.

Ziziphi iindlela zonyango lweHunter Syndrome?

I-Hunter Syndrome inyangwa ngokweempawu zomntwana. Oku kufuna inkxaso yeqela leengcali. Abantu abanolwazi kwiinkalo ezahlukeneyo basebenzisana ukulawula imeko yomntwana. Iinjongo eziphambili zonyango kukucothisa ukuqhubela phambili kwesifo, ukuchonga nokunyanga iingxaki ezinokuvela ngenxa yesifo kwangethuba, kunye nokuphucula umgangatho wobomi bomntwana.

Olona nyango lulungileyo olufumanekayo ngoku ukufezekisa ezi njongo lunyango lokutshintshwa kwee-enzyme (`(Unyango lokutshintshwa kwee-enzyme)`). Kule nto, i-enzyme engekhoyo `(I2S)` ithathelwa indawo yi-enzyme eyenziwe ngumntu (`(Idursulfase (Elaprase®))`). Olu nyango ludla ngokunikezelwa ngemithambo yegazi kanye ngeveki.

Ukongeza, uphando malunga nonyango lwezakhi zofuzo (okanye ukuhlelwa kwezakhi zofuzo) luyaqhubeka okwangoku. Oku kunokuzisa ithemba elikhulu kwizigulane ezineHunter Syndrome kwixesha elizayo. Nangona kunjalo, iziphumo zisalindelwe.

Ngaba ikho indlela yokuthintela oku?

Ekubeni esi sisifo semfuza, ngelishwa asinakuthintelwa. Nangona kunjalo, kubaluleke kakhulu kubazali bomntwana oneHunter Syndrome ukuba bathethe nomcebisi wemfuza ngaphambi kokuba babe nomnye umntwana. Le ngcali inokunceda abazali baqonde umngcipheko wokudlulisela esi sifo komnye umntwana.

Liyintoni ikamva lomntu oneHunter Syndrome?

Unyango olupheleleyo loku alukafunyanwa.Amatyala aqatha esi sifo anokuba yingozi kubomi. Umyinge wobomi obulindelekileyo kubantwana abanjalo uphakathi kweminyaka eli-10 ukuya kwengama-20. Nangona kunjalo, abo banesifo esincinci banokuphila ixesha elide, baze babe ngabantu abadala.

Kwabaninzi abantu, unyango olufana namayeza, unyango lomzimba, kunye notyando lunokunceda ekulawuleni imingeni yesifo kwaye luphucule umgangatho wobomi babo.

Ngaba umntwana wam uza kukwazi ukusebenza ngendlela eqhelekileyo kwakhona?

Abantwana abaneHunter Syndrome banokuba nobunzima kwimisebenzi yemihla ngemihla kunye nokuhambahamba njengoko iimpawu zabo zisiba mandundu kancinci kancinci. Eminye imisebenzi inokufuneka ilungiswe. Ugqirha womntwana wakho uza kuthetha nawe ngemisebenzi kunye nonyango olunokukunceda ujongane neempawu.

Linini ixesha ekufuneka ubone ugqirha ngalo?

Ukuba umntwana wakho uqala ukubonisa iimpawu zeHunter Syndrome, okanye ukuba ubona ukulibaziseka kokukhula, qhagamshelana nogqirha womntwana wakho ngoko nangoko. Ukuqala unyango kwangethuba kunokunceda ekuthinteleni umonakalo ongunaphakade kwizitho zomzimba kunye nezicubu zomzimba.

Ufanele ubuze ntoni kugqirha?

Wakuba ufumanise ukuba umntwana wakho uneHunter Syndrome, ungambuza ugqirha imibuzo efana nale:

• Ingakanani iHunter Syndrome eyingozi?
• Iza kuba yintoni ingqikelelo yomntwana wam yexesha elifutshane nelide?
• Esi sifo siza kuyichaphazela njani ubomi bomntwana wam?
• Ziziphi iindlela zonyango?

Buza le mibuzo uze ulungise nawaphi na amathandabuzo onokuba nawo. Kuba okukhona unolwazi oluthe kratya, kokukhona uya kukwazi ngakumbi ukunceda umntwana wakho.

Yintoni umahluko phakathi kweHunter kunye neHurler syndrome?

I-Hunter Syndrome kunye ne-Hurler Syndrome zizifo ezimbini kwiqela lezifo ezibizwa ngokuba yi-"Lysosomal storage disorders", "Mucopolysaccharidoses".

I-Hurler syndrome lolona hlobo lubi kakhulu lwesifo iMucopolysaccharidosis type I (MPS I). Kwi-MPS I, i-enzyme i-alpha-L-iduronidase ayifumaneki. I-Hurler syndrome inzima kakhulu kune-Hunter syndrome.

Umyalezo oya ekhaya

Ndiyaqonda ukuba kunzima kangakanani ukwazi ukuba umntwana wakho unesifo esifana neHunter Syndrome. Kunokuba buhlungu kakhulu, ingakumbi xa usiva malunga neminyaka yobomi bomntwana wakho. Ngeli xesha linzima, khumbula ukuba awuwedwa.

Eyona nto ibalulekileyo kukusebenzisana noogqirha bomntwana wakho ukuze ufunde okuninzi kangangoko unako ngesi sifo kunye nonyango lwaso. Kwakhona, zingqonge nabantu abakuxhasayo, njengabahlobo bakho kunye nosapho. Inkxaso yabo kunye nentuthuzelo yabo iya kuba ngumthombo omkhulu wamandla ngeli xesha. Khumbula, kuyo yonke imingeni, kukho ithemba.

Isifo sikaHunter, iSifo sikaHunter, iMPS II, Izifo zofuzo, iiEnzymes, Izifo zabantwana, Iimpawu, Unyango