Chirwere Chetachiona Chinokonzera Kugadzira Metabolism
Menkes chirwere chisingawanzoitiki, chinowanzouraya chirwere chepuropaergenerative chinokanganisa kukwanisa kwemuviri kubata mhangura. Dzidza nezvekwakabva kwechirwere, pamwe nemararamiro, kuongororwa uye kurapa.
Mhemberero
Muna 1962, chiremba anonzi John Menkes nevamwe vaaishanda Columbia University muNew York vakabudisa nyaya yesayenzi pamusoro pevashanu vacheche vaiva nechinokanganisa genetic syndrome.
Iyi syndrome, yava kuzivikanwa sechirwere cheMenkes, Menkes kinky mvere dzembudzi kana Menkes syndrome, yave ichionekwa sechirwere chemhangura metabolism mumuviri.
Sezvo vanhu vane chirwere ichi vasingakwanisi kunyatsotora mhangura, uropi, chiropa uye plasma yeropa zvinorehwa nemuviri uyu unokosha. Saizvozvowo, dzimwe nhengo dzomuviri, kusanganisira itsvo, spleen uye skeletal muscle inowedzera mhangura yakawandisa.
Ndiani Anowana Menkes Disease?
Menkes chirwere chinoitika kuvanhu vemarudzi ose. Ijini rinobatanidzwa iri pa X (vakadzi) chromosome, zvinoreva kuti varume vanowanzobatwa nehutano. Madzimai anotakura chiremera chegene kazhinji haaine zviratidzo kunze kwekuti zvimwe zvimwe zviitiko zvisingawanzove zviripo. Chirwere cheMenkes chinofungidzirwa kuti chinoitika chero kupi zvako kubva kune mumwe munhu kune 100 000 kuberekwa kunorarama kune mumwe mu 250 000 kuberekwa patsva.
Zviratidzo
Kune kusiyana kwakawanda kwechirwere cheMenkes, uye zviratidzo zvinogona kubva pane zvinyoro kusvika zvakanyanya.
Chimiro chakakomba kana chekare chinoratidza zviratidzo zvakasiyana, kazhinji kutanga apo mumwe munhu anenge makore maviri kana matatu. Zviratidzo zvinosanganisira:
- Kurasikirwa kwezvinhu zvakakosha zvekusimudzira (somuenzaniso, mwana haakwanisi kubata)
- Misumbu inoshaya simba uye "floppy," nechitsipa chemuviri
- Kugumburwa
- Kukura kukura
- Bvudzi rinoputika, shoma, rakaoma, uye rakakanganiswa (rakafanana nematare) uye rinogona kuva chena kana ghena
- Chiso chave chichikanda matama uye chichitaura majowls
Vanhu vane mararamiro ezvirwere zveMenkes, zvakadai se X-linked cutis laxa, zvingasava nezviratidzo zvose kana kuti zvingave nazvo kuti zvive nedhigirii dzakasiyana.
Kuziva
Vacheche vanoberekerwa nechirwere chekare cheMenkes vanoonekwa sechinyakare pakuberekwa, kusanganisira vhudzi ravo. Vabereki vanowanzotanga kufunga kuti chimwe chinhu chakashata kana mwana wavo ari pamwedzi miviri kana mitatu, apo kuchinja kunotanga kuitika. Mune maitiro akaoma, zviratidzo zvingasaratidzika kusvikira mwana akwegura. Vakadzi vanotakura jena risina simba vangangodonha bvudzi, asi kwete nguva dzose. Hezvino izvo vanachiremba vanotarisira kuti vaongorore:
- Mhangura yemhangura uye ceruloplasmin mazinga muropa, mushure mekunge mwana ane mavhiki masere (kwete kuongororwa kare kare)
- Mhangura yemhangura mumapapu (inogona kuongororwa mumwana mutsva)
- Abnormal catechol muropa uye cerebrospinal fluid (CSF), kunyange muchecheche
- Ganda rinoputika rinogona kuedza kutsva metabolism
- Kubvunzurudza kwebvudzi kucharatidza Menkes kusagadzikana
Treatment Options
Sezvo Menkes achidzivirira kukwanisa kwemhangura kusvika kumasero emuviri nhengo, zvino, zvine musoro, kuwana mhangura kumasero nhengo dzinoda iyo inofanira kubatsira kubvisa chirwere chacho, chakarurama Hazvisi nyore.
Vatsvakurudzi vakaedza kupa injiramu dzomukati dzemhangura, nemigumisiro yakavhenganiswa. Iyo inoratidzika seyo yapakutanga munguva yechirwere icho majekesiti anopiwa, zvinowedzera zvakanaka zvigumisiro. Milder maitiro echirwere anopindura zvakanaka, asi chimiro chakanyanya hachiratidzi kuchinja kukuru. Iyi nzira yerapi, pamwe chete nevamwe, ichiri kuongororwa.
Kurapwa kunowedzerawo mukudzikinura zviratidzo. Mukuwedzera kune vanoongorori vezvechiremba, kurapa kwepanyama uye yebasa kunogona kubatsira kukurisa mikana. Aine chikafu kana chikafu chekudya chinokurudzira kudya kwakakwana-koriori, kazhinji nezvimwe zvinowedzera kuwedzera kumwana.
Genetic screening yemhuri yemumwe munhu ichaziva vatakuri uye inopa mazano nekupa mazano pamusoro pengozi dzekudzoka zvakare.
Kana mwana wako akaongororwa ane chirwere cheMenkes, unogona kutaura nechiremba wako pamusoro pekuberekwa kwemajeni kumhuri yako. Kuchengeta kuchajekesa vatakuri uye kunogona kubatsira chiremba wako kupa kupa mazano uye kutungamirirwa pamusoro pengozi dzinodzokorora, iyo inenge inenge imwechete pamakumbo mana. Kuziva nezveMenkes Foundation, sangano risina purogiramu yemhuri rakakanganiswa neMenkes Disease, rinogona kukubatsira kuwana rubatsiro.
Sources:
Kaler, SG (2002). Menkes kinky hair disease. eMedicine.
Menkes Foundation. (nd). Kutsvakurudza Kwazvo.