Ingabe ingane yakho encane inezinwele ezigoqekile ngendlela exakile? Ake sifunde ngesifo iMenkes!

Wake waphawula ukuthi izinwele zomntwana wakho omncane zingavamile kakhulu, zigobile njengentambo, zinombala okhanyayo, futhi ziyaphuka kalula? Noma ingabe umzimba womntwana wakho uzizwa ukhululekile futhi ubanda? Nakuba lezi yizinto ngezinye izikhathi esingazinaki kakhulu, zingaba izimpawu zokuqala zezifo ezingavamile. Isibonelo, isifo esingavela ezinganeni, kodwa okungakhulunywa ngaso kakhulu, sibizwa ngokuthi iMenkes Disease. Ake sixoxe ngalokhu ngemininingwane ethe xaxa namuhla.

Kuyini iMenkes Disease? Kalula nje...

Isifo sikaMenke siyisifo esibangelwa izakhi zofuzo . Kusho ukuthi umntwana uzalwa naso. Okwenzekayo kulokhu ukuthi umzimba awukwazi ukusebenzisa kahle izakhamzimba ezidingekayo zethusi . Manje ungase ucabange, "Iyini ithusi?" Empeleni, ithusi liyinto esiza izinhlelo eziningi ezibalulekile emzimbeni wethu ukuthi zisebenze kahle. Cabanga ngakho:

• Uhlelo lwethu lwezinzwa (okungukuthi, ubuchopho kanye nemizwa egijima kuwo wonke umzimba) kumele lusebenze kahle.
• Gcina amathambo ethu eqinile.
• Kwangathi izinwele zethu nesikhumba sethu kungaba nempilo.
• Imithambo yethu yegazi (lapho igazi ligeleza khona) kufanele isebenze kahle.

Ithusi libalulekile kuzo zonke lezi zinto. Ngakho-ke, njengoba umzimba wengane eneMenkes Disease ungayisebenzisi kahle lethusi, ingabangela umonakalo omkhulu, ikakhulukazi ohlelweni lwezinzwa. Lokhu kubangela ukukhula kwengane ukuthi kuphazamiseke futhi umzimba ube buthakathaka. Into edabukisayo ukuthi lesi sifo singasongela impilo .

Kulesi sifo, izinwele zomntwana ziba zigobile ngendlela exakile futhi zibukeke njengocingo, ngakho abanye abantu bakubiza ngokuthi "isifo sezinwele ezigobile."

Into ebalulekile ukuthi akukabikho ikhambi eliphelele lalokhu okwamanje. Kodwa-ke, uma ukwelashwa ngethusi kuqala phakathi namasonto amane okuqala okuzalwa komntwana, kungenzeka ukunciphisa izimpawu futhi kwandise impilo yengane kancane. Ngakho-ke, ukuxilongwa kusenesikhathi kubaluleke kakhulu.

Isifo sikaMenkes sivame kangakanani?

Emhlabeni jikelele, kwakucatshangwa ngaphambilini ukuthi cishe ingane eyodwa kweziyi-100,000 esanda kuzalwa ingaba nalesi sifo. Lokho cishe kuyisigidi esisodwa kwezimbili nesigamu.

Kodwa-ke, ucwaningo olusha olwenziwe ngo-2020 kusetshenziswa idatha evela ku-Genome Aggregation Database luthole ukuthi leli nani lingaba phezulu kakhulu. Ngakho-ke, kuthiwa ingane eyodwa kwabesilisa abangu-8,664 e-United States kuphela, noma cishe izingane ezingu-225 ngonyaka, ingaba nalesi simo.

Uma izindlela zokuhlola izinsana ezisanda kuzalwa zithuthukiswa esikhathini esizayo, lezi zibalo zizoqinisekiswa ngokwengeziwe futhi kuzoba nokwenzeka ukuhlonza lesi sifo kusenesikhathi bese kuqala ukwelashwa.

Ubani onamathuba amaningi okuthola lesi sifo?

Isifo sikaMenkes sivame kakhulu kubafana.Yiyona ethinta kakhulu. Kodwa ingathinta noma yiluphi uhlanga, noma yiliphi iqembu lesizwe.

Ziyini izimpawu zesifo iMenkes?

Izinsana ezineMenkes Disease ngezinye izikhathi zingazalwa ngaphambi kwesikhathi . Zingase zibonakale ziphilile ngokuvamile lapho zizalwa.

Kodwa-ke, izimpawu zokuqala ziqala ukuvela cishe ezinyangeni ezimbili kuya kwezintathu ubudala . Lezi yizi:

• Izinwele ezi-kinky uhlobo lwezinwele ezigoqekile, ezisontekile, nezigobile. Lezi zinwele zinombala okhanyayo kakhulu, ngezinye izikhathi zimhlophe noma zimpunga. Ziphinde ziqhekeke kalula.
• Ukuncipha kwemisipha (Hypotonia): Lokhu kusho ukuthi umzimba womntwana ubuthakathaka kakhulu. Ubonakala ungaphili.
• Izinga lokushisa lomzimba eliphansi (i-Hypothermia): Umzimba womntwana uzizwa ubanda ngaso sonke isikhathi.
• Ubuso bubonakala bugobile .
• Izimpawu zesifo sokuwa (ukuwa/isithuthwane) , okungukuthi, izimo ezifana nokuwa.
• Ukukhula kancane kanye nokwehluleka ukukhula: Ingane ayikhuli kahle futhi ayikhuli kahle .
• Ukuphuzi kwesikhumba namehlo (i-jaundice).

Lezi zimpawu azibonakali kuzo zonke izingane ngesikhathi esisodwa. Ngezinye izikhathi, nakuba zingavamile kakhulu, lezi zimpawu zingavela kamuva ebuntwaneni noma ngisho nasebusheni.

Yiziphi izinkinga ezingaba khona ze-Menkes Syndrome?

I-Menkes Syndrome iyisifo esiwohloka ngenxa yokuphazamiseka kwemizwa esibhubhisa kancane kancane uhlelo lwezinzwa . Lokhu kusho ukuthi ngokuhamba kwesikhathi, izinkinga zokuqonda ziyakhula ebuchosheni kanye namakhono okucabanga. Izingane kanye nabantu abadala abanalesi sifo bangaba nezinkinga ezifana nalezi:

• Izinkinga ezifana nokopha kobuchopho (ama-hematoma angaphansi kwe-subdural) .
• I-Diverticulosis ukwakheka kwezikhwama ezincane eziphuma odongeni lwamathumbu noma esinyeni.
• Ukwakheka kwamathambo amancane kakhulu (amathambo ama-Wormian) ekhanda.
• Ukulahlekelwa amakhono okunyakaza komzimba .
• I-Osteoporosis yisimo esibangela ukuba amathambo abe buthakathaka futhi aqhekeke, okwenza kube lula ukuphuka.
• I-Arterial tortuosity syndrome .

Kukhona into ebalulekile okufanele ishiwo lapha. Ngezinye izikhathi, lapho ingane inokopha ebuchosheni noma amathambo aphukile, odokotela bangase basole ukuthi ingane iyahlukunyezwa. Uma wazi ukuthi ingane yakho isendaweni ephephile, kodwa ikhombisa lezi zimpawu, khuluma nodokotela wakho futhi nixoxe ngokuhlolelwa iMenkes Disease.

Iyini i-Occipital Horn Syndrome (OHS)?

I-Occipital Horn Syndrome (OHS) uhlobo oluthambile lweMenkes Disease.Lokhu kusho ukuthi izimpawu azizimbi kangako. Ngokuvamile zitholakala lapho ingane ineminyaka ephakathi kwemi-5 neyi-10 ubudala.

Ngaphezu kwezimpawu ezincane zeMenkes Disease, izingane ezine-OHS nazo zingase zibhekane nalokhu:

• Izimpondo zase-Occipital: Lezi yizakhiwo ezifana nezimpondo ezakhiwe yizinsalela ze-calcium phansi kwekhanda.
• I-Dysautonomia: Inkinga yesimiso sezinzwa esithinta izinto ezifana nomfutho wegazi kanye nokulinganisela komzimba.
• Ukuxega kwamalunga kanye nesikhumba.
• Izinkinga ezincane ngekhono lokucabanga.

Yini ebangela iMenkes Disease?

Njengoba sishilo ngaphambili, iMenkes Disease iyisifo esibangelwa izakhi zofuzo . Okusho ukuthi, sikhona lapho sizalwa. Ezimweni ezingaba yizingxenye ezimbili kwezintathu, sibangelwa isakhi sofuzo esinephutha esizuzwe kunina . Ezimweni ezingaba yizingxenye ezintathu, lesi sifo sibangelwa izinguquko ezintsha esakhiweni sofuzo esibizwa ngokuthi i-ATP7A.

I-gene ebangela lesi sifo ibizwa ngokuthi i-`ATP7A`, ethinta ukukhiqizwa kweprotheni elawula inani lethusi emizimbeni yethu. Ngakho-ke uma le gene ye-`ATP7A` ingasebenzi kahle, umzimba wethu awukwazi 'ukuthutha' ithusi ngendlela efanele.

Abafana banamathuba amaningi okuthola lesi sakhi sofuzo ngoba i-Menkes Syndrome iyisifo sofuzo esixhumene no-X . Abafana bane-chromosome eyodwa engu-X. Ngakho-ke uma kukhona isakhi sofuzo esinephutha kuso, lesi sifo sizokhula. Amantombazane ane-chromosome ezimbili ezingu-X, ngakho-ke ukuze athole lesi sifo, womabili ama-gene anephutha kumele azuzwe njengefa.

Odokotela bahlonza kanjani isifo seMenkes?

Ukuze kutholakale isifo seMenkes, udokotela uzoqala ahlole ingane. Ikakhulukazi, bazonaka izinwele ezigoqekile neziqhekekile . Bazobuza nangezimpawu kanye nomlando wezokwelapha womndeni. Ingane ingahlolwa futhi ukuthi ithole:

• Ukuhlolwa kwegazi: Kuthathwa isampula yegazi ukuze kuhlolwe amazinga aphansi ethusi, i-ceruloplasmin (iphrotheni ethwala ithusi), kanye nama-catecholamine, ama-hormone asiza ukulawula ukunyakaza kwemisipha kanye nemizwelo.
• I-CT scan noma i-X-ray: Lokhu kuzobheka amathambo amancane, asontekile (amathambo e-wormian) ekhanda lengane. Lokhu kubangelwa izinkinga ngezicubu ezixhumeneyo ezibangelwa ukuntuleka kwethusi.
• I-biopsy yesikhumba: Kuthathwa isampula encane kakhulu yesikhumba sengane bese ihlolwa ngaphansi kwe-microscope ukuze kuhlolwe ukuthi umzimba wengane usebenzisa ithusi kahle kangakanani.
• I-Ultrasound: Lokhu kusetshenziselwa ukuhlola isinye. I-Diverticula, okuyizikhwama eziphuma esinyeni, iyinkinga evamile ye-Menkes Syndrome.
• Ukuhlolwa komchamo: Lokhu kuhlolwa kuhlola amazinga aphezulu ama-asidi athile (i-HVA/VMA) emchameni. Inani lala ma-asidi liyahlukahluka kuye ngomsebenzi we-enzyme encike kuthusi.

Ingabe ingane yami ingahlolwa izakhi zofuzo zesifo seMenkes?

Abacwaningi basazama ukuthola izindlela ezintsha zokuthola isifo sikaMenkes kusenesikhathi. Ukuhlolwa kwezakhi zofuzo okubheka izinguquko ku-gene ye-ATP7A kungenye yezindlela zokwenza lokhu.

Odokotela baphatha kanjani isifo sikaMenkes?

Ukuze ukwelashwa kusebenze kahle kakhulu, kufanele kuqalwe zingakapheli izinsuku ezingu-25 kuya kwezingu-28 kusukela ekuzalweni . Impumelelo yokwelashwa incike ekutheni ukuguqulwa kwezakhi zofuzo ze-`ATP7A` kukhulu kangakanani.

Odokotela banikeza izingane ezinesifo i-Menkes i-copper histidine esikhundleni sayo njengomjovo ongaphansi kwesikhumba . Umgomo walokhu kwelashwa ukwandisa inani le-copper egazini. Kungasiza futhi ekunciphiseni umonakalo ohlelweni lwezinzwa, kunciphise izimo ezifana nokuxhuzula, futhi kwandise isikhathi sokuphila kwengane.

Ngingazilawula kanjani izimpawu zengane yami?

Ngenxa yokuthi ayikatholakali ikhambi leMenkes Disease, odokotela bagxila ekuphatheni izimpawu. Ithimba lezokwelapha elalapha ingane yakho lingenza izinto ezifana nalezi:

• Ukunikeza imithi yokulawula ukuquleka.
• Ukudla okunempilo kwangaphakathi kuwukuphakela ukudla ngepayipi ukuze kusize ingane ukuthi imunce izakhamzimba kangcono.
• Ukuncoma ukwelashwa ngokomzimba noma ukwelashwa ngokomsebenzi .
• Ukukunikeza imithi yobuhlungu .

Liyini ikusasa labantu abaneMenkes Disease?

Uma ukwelashwa kungaqalwa kusenesikhathi, izingane ezineMenkes Disease zivame ukuphila iminyaka engaphansi kwemithathu .

Ngisho noma belashwa, izimpawu zeMenkes Disease zingaba zimbi kakhulu ngokuhamba kwesikhathi. Ngisho nabafana abanalesi simo abathola ukwelashwa bangaphila iminyaka eyi-10 noma ngaphansi.

Ingabe isifo seMenkes singavinjelwa?

Ngeshwa, iMenkes Disease ayinakuvinjelwa . Uma unelungu lomndeni noma ingane enalesi simo, kubalulekile ukukhuluma nodokotela futhi uthole ukwelulekwa ngofuzo .

Ngaphambi kokuba ukhulelwe, ungenza ukuhlolwa kofuzo (ukuhlolwa kofuzo / ukuhlolwa kwe-DNA) ukuthola ukuthi unayo yini i-gene ebangela i-Menkes Disease. Lolu lwazi lungakusiza lapho uhlela umndeni.

Kufanele ubonane nini nodokotela mayelana neMenkes Disease?

Uma ucabanga ukuthi ingane yakho inezimpawu zeMenkes Disease, bona udokotela ngokushesha . Ukutholwa kusenesikhathi kungathuthukisa ikhwalithi yokuphila kwezingane ezinalesi simo.

Ngenxa yokuthi iMenkes Disease izuzwa nge-X-chromosome, abesifazane bangenza ukuhlolwa kwe-DNA ukuthola ukuthi banayo yini i-gene ebangela lesi sifo. Kungumqondo omuhle ukukhuluma nodokotela wakho mayelana nokwelulekwa nge-genetic ngaphambi kokuba nezingane.

Uma ingane yakho ineMenkes Disease, khuluma nodokotela wakho ngezindlela ezingcono kakhulu zokuphatha izimpawu nokuthuthukisa ikhwalithi yempilo yakho. Nakuba kungekho ikhambi leMenkes Disease, odokotela basebenza kanzima ukuthola izindlela ezintsha zokuxilonga nokwelapha lesi simo. Futhi, ukujoyina amaqembu okusekela abazali bezingane ezineMenkes Disease kuyindlela enhle yokwabelana ngolwazi nokuthola induduzo.

Izinto ezibaluleke kakhulu okufanele uzikhumbule (Umyalezo Wokuya Ekhaya)

Kulungile, ake sifingqe ezinye zezinto okudingeka uzikhumbule kulokho esikhulume ngakho:

• Isifo sikaMenkes siyisifo esibangelwa izakhi zofuzo esibangela ukuthi umzimba ungasebenzisi ithusi ngendlela efanele.
• Lokhu kuvame kakhulu kubafana .
• Uma izinwele zengane yakho zigoqeka ngendlela engavamile, sezinombala okhanyayo, zikhululekile ekubunjweni, noma ziye zanciphisa ukukhula, funa iseluleko sezokwelapha ngokushesha.
• Kubaluleke kakhulu ukuxilonga lesi sifo bese uqala ukwelashwa kusenesikhathi . Kungcono uma ukwelashwa kuqalwa zingakapheli amasonto amane okuqala okuzalwa.
• Nakuba kungekho ikhambi eliphelele, kunezindlela zokwelapha zokulawula izimpawu nokwandisa impilo .
• Uma unomlando womndeni walezi zifo, kuwukuhlakanipha ukufuna iseluleko ngofuzo .

Ngiyethemba ukuthi lolu lwazi luzokusiza. Uma unokungabaza, akukaze kube sekwephuzile ukukhuluma nodokotela.

Isifo sikaMenkes , Ithusi, Izifo zofuzo, Izifo zezingane, Isimiso sezinzwa, Izinwele ezigobile, i-ATP7A