Ngaba umntwana wakho omncinci uneenwele ezigobileyo ngendlela engaqhelekanga? Masifunde ngeMenkes Disease!

Ngaba wakha waqaphela ukuba iinwele zomntwana wakho omncinci zingaqhelekanga, zigobile njengentambo, zinombala okhanyayo, kwaye ziyaphuka lula? Okanye ngaba umzimba womntwana wakho uziva ukhululekile kwaye ubanda? Nangona ezi zizinto ngamanye amaxesha esingazinaki kangako, zinokuba ziimpawu zokuqala zezifo ezingaqhelekanga. Umzekelo, isifo esinokwenzeka kwiintsana, kodwa singathethwa kakhulu ngaso, sibizwa ngokuba yiMenkes Disease. Makhe sithethe ngale nto ngokweenkcukacha namhlanje.

Yintoni iMenkes Disease? Ngamafutshane...

Isifo sikaMenke sisifo esibangelwa lufuzo . Sithetha ukuba umntwana uzalwa naso. Okwenzekayo koku kukuba umzimba awukwazi ukusebenzisa kakuhle i -copper yezakhamzimba ezibalulekileyo. Ngoku usenokuba ucinga, "Iyintoni i-copper?" Enyanisweni, i-copper yinto enceda iinkqubo ezininzi ezibalulekileyo emizimbeni yethu ukuba isebenze kakuhle. Cinga ngayo:

• Inkqubo yethu yemithambo-luvo (oko kukuthi, ingqondo kunye nemithambo-luvo ehamba emzimbeni wonke) kufuneka isebenze kakuhle.
• Gcina amathambo ethu eqinile.
• Ngamana iinwele zethu nolusu lwethu zingaba sempilweni.
• Imithambo yethu yegazi (apho igazi lihamba khona) kufuneka isebenze kakuhle.

I-Copper ibalulekile kuzo zonke ezi zinto. Ngoko ke, ekubeni umzimba womntwana oneMenkes Disease ungayisebenzisi kakuhle le copper, inokubangela umonakalo omkhulu, ingakumbi kwinkqubo yemithambo-luvo. Oku kubangela ukuba ukukhula komntwana kuphazamiseke kwaye umzimba ube buthathaka. Into ebuhlungu kukuba, esi sifo sinokuba yingozi ebomini .

Kwesi sifo, iinwele zomntwana ziba zigobile ngendlela engaqhelekanga kwaye zibukeke ngathi lucingo, ngoko ke abanye abantu bayibiza ngokuba "yisifo seenwele ezibhityileyo."

Into ebalulekileyo kukuba akukabikho nyango lupheleleyo loku. Nangona kunjalo, ukuba unyango lwe-copper luqalwe kwiiveki ezine zokuqala zokuzalwa komntwana, kunokwenzeka ukunciphisa iimpawu nokwandisa ubomi bomntwana kancinci. Ke ngoko, ukuxilongwa kwangoko kubaluleke kakhulu.

Ixhaphake kangakanani iMenkes Disease?

Kwihlabathi liphela, ngaphambili kwakucingwa ukuba malunga ne-1 kwi-100,000 yeentsana ezisandul’ ukuzalwa zinokuba nesi sifo. Oko kuthetha ukuba malunga ne-1 kwizigidi ezibini ezinesiqingatha.

Nangona kunjalo, uphando olutsha olwenziwe ngo-2020 kusetyenziswa idatha evela kwiGenome Aggregation Database lufumanise ukuba eli nani linokuba phezulu kakhulu. Ngoko ke, kuthiwa umntwana omnye kwabayi-8,664 abangamadoda eMelika kuphela, okanye malunga neentsana ezingama-225 ngonyaka, unokuba nale meko.

Ukuba iindlela zokuhlola iintsana ezisandul’ ukuzalwa ziyaphuhliswa kwixesha elizayo, ezi zibalo ziya kuqinisekiswa ngakumbi kwaye kuya kuba nokwenzeka ukuchonga isifo kwangethuba nokuqala unyango.

Ngubani onokuthi afumane esi sifo?

Isifo sikaMenkes sixhaphake kakhulu kubafana.Yiyo echaphazela kakhulu. Kodwa inokuchaphazela naluphi na uhlanga, naluphi na uhlanga.

Zithini iimpawu zesifo sikaMenkes?

Iintsana ezineMenkes Disease ngamanye amaxesha zinokuzalwa ngaphambi kwexesha . Zisenokubonakala ziphilile xa zizalwa.

Nangona kunjalo, iimpawu zokuqala ziqala ukubonakala malunga neenyanga ezi-2 ukuya kwezi-3 ubudala . Nazi:

• Iinwele ezithambileyo luhlobo lweenwele ezigobileyo, ezibhityileyo, nezigobileyo. Ezi nwele zikhanya kakhulu ngombala, ngamanye amaxesha zimhlophe okanye zingwevu. Zikwaphuka lula.
• Ukuncipha kwethoni yemisipha (Hypotonia): Oku kuthetha ukuba umzimba womntwana ubuthathaka kakhulu. Ubonakala ungenabomi.
• Ubushushu bomzimba obuphantsi (iHypothermia): Umzimba womntwana uziva ubanda ngalo lonke ixesha.
• Ubuso bubonakala bugobile .
• Iimpawu zesifo sokuwa (ukuxhuzula/ukuxhuzula) , oko kukuthi, iimeko ezifana nokuxhuzula.
• Ukukhula kancinci kunye nokungaphumeleli ukukhula: Umntwana akakhuli kakuhle kwaye akatyebi .
• Ukutyheli kolusu namehlo (i-jaundice).

Ezi mpawu azibonakali kumntwana ngamnye ngaxeshanye. Ngamanye amaxesha, nangona zingaqhelekanga, ezi mpawu zinokuvela kamva ebuntwaneni okanye nakwiminyaka yokufikisa.

Ziziphi iingxaki ezinokubakho zeMenkes Syndrome?

I-Menkes Syndrome sisifo esiwohlokayo se-neurological esitshabalalisa kancinci kancinci inkqubo ye-nervous . Oku kuthetha ukuba ngokuhamba kwexesha, iingxaki zengqondo ziyakhula kwizakhono zengqondo kunye nokucinga. Abantwana kunye nabantu abadala abanale sifo banokuba neengxaki ezifana nezi:

• Iingxaki ezifana nokopha kwegazi ebuchosheni (ii-hematomas ezingaphantsi kwesisu) .
• I-Diverticulosis kukuphuhliswa kweengxowa ezincinci eziphuma eludongeni lwamathumbu okanye isinyi.
• Ukwakheka kwamathambo amancinci kakhulu (amathambo e-Wormian) ekhayeni.
• Ukulahlekelwa zizakhono zomzimba .
• I-Osteoporosis yimeko ebangela ukuba amathambo abe buthathaka kwaye aqhekeke, nto leyo eyenza kube lula ukuphuka.
• Isifo sokugoba kwemithambo yegazi .

Kukho into ebalulekileyo ekufuneka ithethwe apha. Ngamanye amaxesha, xa umntwana ephuma igazi engqondweni okanye ephukile amathambo, oogqirha banokukrokrela ukuba umntwana uyaxhatshazwa. Ukuba uyazi ukuba umntwana wakho ukwindawo ekhuselekileyo, kodwa ubonisa ezi mpawu, ngokuqinisekileyo thetha nogqirha wakho nize nixoxe ngokufumana uvavanyo lweMenkes Disease.

Yintoni i-Occipital Horn Syndrome (OHS)?

I-Occipital Horn Syndrome (OHS) luhlobo olungenamandla kakhulu lweMenkes Disease.Oku kuthetha ukuba iimpawu azikho nzima kangako. Zidla ngokufunyaniswa xa umntwana ephakathi kweminyaka emi-5 neli-10 ubudala.

Ukongeza kwiimpawu ezingephi zeMenkes Disease, abantwana abane-OHS banokufumana oku kulandelayo:

• Iimpondo zase-Occipital: Ezi zizakhiwo ezifana neempondo ezenziwe yi-calcium deposits ezantsi kwekhakayi.
• I-Dysautonomia: Ingxaki kwinkqubo yemithambo-luvo echaphazela izinto ezifana noxinzelelo lwegazi kunye nokulinganisela komzimba.
• Ukuqaqanjelwa kwamalungu kunye nolusu.
• Iingxaki ezincinci ngesakhono sokucinga.

Yintoni ebangela isifo seMenkes?

Njengoko besitshilo ngaphambili, iMenkes Disease sisifo semfuza . Oko kukuthi, sibakho xa umntu ezalwa. Kwicala lesibini kwisithathu samatyala, sibangelwa yijini ephosakeleyo efunyenwe kunina . Kwicala lesithathu samatyala, esi sifo sibangelwa ziinguqu ezintsha kwijini ebizwa ngokuba yi-ATP7A.

Ijini ebangela esi sifo ibizwa ngokuba yi-`ATP7A`, echaphazela ukuveliswa kweproteni elawula ubungakanani bekopolo emizimbeni yethu. Ngoko ke xa le jini ye-`ATP7A` ingasebenzi kakuhle, imizimba yethu ayinakukwazi 'ukuthutha' ikopolo ngokufanelekileyo.

Abafana banamathuba amaninzi okufumana eli jini kuba iMenkes Syndrome sisifo semfuza esidityaniswe ne-X . Abafana bane-chromosome enye ye-X. Ngoko ke ukuba kukho i-gene enesiphene kuyo, esi sifo siya kuvela. Amantombazana ane-chromosome ezimbini ze-X, ngoko ke ukuze afumane esi sifo, zombini ezi gene zinesiphene kufuneka zifunyanwe njengelifa.

Oogqirha bayixilonga njani iMenkes Disease?

Ukuze axilonge iMenkes Disease, ugqirha uza kuqala amhlole umntwana. Ngokukodwa, uza kuqwalasela iinwele ezibuthathaka nezigobileyo . Baza kubuza nangeempawu kunye nembali yezonyango yosapho. Umntwana angavavanywa kwakhona ku:

• Uvavanyo lwegazi: Kuthathwa isampulu yegazi ukujonga amanqanaba aphantsi e-copper, i-ceruloplasmin (iproteni ethwala i-copper), kunye ne-catecholamines, ii-hormone ezinceda ukulawula intshukumo yemisipha kunye neemvakalelo.
• I-CT scan okanye i-X-ray: Oku kuya kukhangela amathambo amancinci, ajijekileyo (amathambo e-wormian) ekhayeni lomntwana. Oku kubangelwa ziingxaki kwizicubu ezidityanisiweyo ezibangelwa kukungabikho kobhedu.
• I-biopsy yolusu: Kuthathwa isampulu encinci kakhulu yolusu lomntwana ize ihlolwe phantsi kwemakroskopu ukujonga ukuba umzimba womntwana usebenzisa ubhedu kangakanani na.
• I-Ultrasound: Le isetyenziselwa ukuhlola isinyi. I-Diverticula, eziziingxowa eziphuma kwisinyi, yingxaki eqhelekileyo yeMenkes Syndrome.
• Uvavanyo lomchamo: Olu vavanyo lujonga amanqanaba aphezulu ee-asidi ezithile (i-HVA/VMA) kumchamo. Ubungakanani bezi asidi buyahluka ngokuxhomekeke kumsebenzi we-enzyme exhomekeke kubhedu.

Ngaba umntwana wam angavavanywa i-genetic yesifo seMenkes?

Abaphandi basazama ukufumana iindlela ezintsha zokufumanisa isifo sikaMenkes kwangethuba. Uvavanyo lwemfuza olukhangela utshintsho kwi-gene ye-ATP7A yenye yeendlela zokwenza oku.

Oogqirha banyanga njani isifo sikaMenkes?

Ukuze unyango lusebenze kakuhle, kufuneka luqalwe kwiintsuku ezingama-25 ukuya kwezingama-28 emva kokuzalwa . Impumelelo yonyango ixhomekeke ekubeni utshintsho kwi-gene ye-`ATP7A` lunzima kangakanani.

Oogqirha banika abantwana abanesifo sikaMenkes into ethatha indawo yekopolo ebizwa ngokuba yi-copper histidine njengeenaliti ezingaphantsi kolusu . Injongo yolu nyango kukunyusa ubungakanani bekopolo egazini. Inokunceda ekunciphiseni umonakalo kwinkqubo yemithambo-luvo, ukunciphisa iimeko ezifana nokuxhuzula, kunye nokwandisa ubomi bomntwana.

Ndingazilawula njani iimpawu zomntwana wam?

Ngenxa yokuba kungekho nyango lweMenkes Disease, oogqirha bagxila ekulawuleni iimpawu. Iqela lezonyango elinyanga umntwana wakho linokwenza izinto ezifana nezi:

• Ukunika amayeza okulawula ukuxhuzula.
• Isondlo sangaphakathi kukutya umntwana ngetyhubhu ukuze ancede umntwana afunxe izondlo ngcono.
• Ukucebisa unyango lomzimba okanye unyango lomsebenzi .
• Ukunika amayeza eentlungu .

Liyintoni ikamva labantu abaneMenkes Disease?

Ukuba unyango aluqalwanga kwangethuba, abantwana abaneMenkes Disease badla ngokuphila iminyaka engaphantsi kwemithathu .

Nokuba unyango lukhona, iimpawu zeMenkes Disease zinokuba mandundu ngokuhamba kwexesha. Kwanamakhwenkwe anesi sifo afumana unyango angaphila iminyaka eli-10 okanye ngaphantsi.

Ngaba isifo sikaMenkes singathintelwa?

Ngelishwa, iMenkes Disease ayinakuthintelwa . Ukuba unelungu losapho okanye umntwana onale meko, kubalulekile ukuthetha nogqirha kwaye ufumane ingcebiso ngemfuza .

Ngaphambi kokuba ukhulelwe, ungenza uvavanyo lwemfuza (uvavanyo lwemfuza / uvavanyo lwe-DNA) ukuze ufumane ukuba unayo na i-gene ebangela iMenkes Disease. Olu lwazi lunokukunceda xa ucwangcisa usapho.

Ufanele uye nini kugqirha malunga neMenkes Disease?

Ukuba ucinga ukuba umntwana wakho uneempawu zeMenkes Disease, bonana nogqirha ngoko nangoko . Ukufunyaniswa kwangoko kunokuphucula umgangatho wobomi babantwana abanale meko.

Ngenxa yokuba iMenkes Disease ifunyanwa njengelifa nge-X-chromosome, abafazi banokwenza uvavanyo lwe-DNA ukuze kufunyaniswe ukuba banayo na i-gene ebangela esi sifo. Kungumbono omhle ukuthetha nogqirha wakho malunga neengcebiso ze-genetic ngaphambi kokuba nabantwana.

Ukuba umntwana wakho uneMenkes Disease, thetha nogqirha wakho ngeendlela ezilungileyo zokulawula iimpawu kunye nokuphucula umgangatho wobomi bakho. Nangona kungekho nyango lweMenkes Disease, oogqirha basebenza nzima ukufumana iindlela ezintsha zokuxilonga nokunyanga le meko. Kwakhona, ukujoyina amaqela enkxaso kubazali babantwana abaneMenkes Disease yindlela entle yokwabelana ngamava kunye nokufumana intuthuzelo.

Izinto ezibalulekileyo ekufuneka uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, masishwankathele ezinye zezinto ekufuneka uzikhumbule koko sithethe ngako:

• Isifo sikaMenkes sisifo semfuza esibangela ukuba umzimba ungasebenzisi ubhedu ngokufanelekileyo.
• Oku kuqheleke kakhulu kubafana .
• Ukuba iinwele zomntwana wakho zigobile ngendlela engaqhelekanga, zikhanya ngombala, zikhululekile, okanye zicotha ukukhula, funa ingcebiso kagqirha ngokukhawuleza.
• Kubaluleke kakhulu ukuxilonga isifo nokuqala unyango kwangethuba . Kungcono ukuba unyango luqalwe kwiiveki ezi-4 zokuqala zokuzalwa.
• Nangona kungekho nyango lupheleleyo, kukho unyango lokulawula iimpawu nokwandisa ubomi .
• Ukuba unembali yentsapho yakho yezi zifo, bubulumko ukufuna iingcebiso ngemfuza .

Ndiyathemba ukuba olu lwazi luza kukunceda. Ukuba unamathandabuzo, akukabi lixesha lokuba uthethe nogqirha.

Isifo sikaMenkes , iCopper, Izifo zofuzo, Izifo zabantwana, Inkqubo yemithambo-luvo, Iinwele ezigobileyo, i-ATP7A