Ingxaki ye-Genetic echaphazela i-copper Metabolism
Isifo seMenkes sisifo esingaqhelekanga, esisoloko sisifo esifana negazi esichaphazela amandla omzimba wokufumana ubhedu. Funda malunga nemvelaphi yesi sifo, kunye neempawu, ukuxilongwa kunye nokonyango.
Imvelaphi
Ngowe-1962, ugqirha ogama linguJohn Menkes kunye nabalingane bakhe kwi-University of Columbia eNew York banyathelisa inqaku lesayensi malunga neentsana ezinesibini ezinesifo esihlukile.
Esi sifo, esaziwa njengesi sifo seMenkes, isifo seMenkes okanye i-Menkes isifo se-kenky, siye sachongwa njengengxaki yokubhebhetheka kwe-copper metabolism emzimbeni.
Ekubeni abantu abanesi sifo abanako ukufumana ubhedu ngokufanelekileyo, ingqondo, isibindi kunye negazi leplasma ziyanqatshelwe esi sibondlo esibalulekileyo. Ngokufanayo, ezinye iinxalenye zomzimba, kubandakanywa nezintso, i-spleen kunye ne-muscle muscle iqokelela ngobuninzi bhusi.
Ngubani Ofumana Izifo zeMenkes?
Isifo seMenkes senziwa kubantu bazo zonke iintlanga. Imfuza ibandakanyeka kwi-X (insikazi) i-chromosome, oko kuthetha ukuba amadoda ahlala echaphazelekayo yi-disorder. Abafazi abathwala i-defect defect ngokuvamile abanalo iimpawu ngaphandle kokuba ezinye iimeko ezingaqhelekanga zofuzo zikhoyo. Isifo seMenkes siqikelelwa ukuba senzeke naphi na umntu omnye kwi-100,000 azalwa ngokuzalwa ukuya kuma-250,000 azalwa ngokuzalwa.
Iimpawu
Kukho iintlobo ezininzi zesifo seMenkes, kwaye iimpawu zingaphuma kwi-mild to severe.
Ifom ekhuni okanye yeklasiki eneempawu eziqhelekileyo, ngokuqhelekileyo ziqala xa umntu eneminyaka emibili okanye emithathu ubudala. Iimpawu ziquka:
- Ukulahleka kwezinto eziphambili zophuhliso (umzekelo, umntwana akasakwazi ukumbamba)
- Imisipha ibe buthathaka kunye "ne-floppy," ngezwi eliphantsi lomsila
- Ukuxhamla
- Ukukhula okubi
- Izinwele ze-Scalp zifutshane, zincinci, zinyanzele, zisontekile (zifana neentambo) kwaye zinokuba zimhlophe okanye ziluhlaza
- Ubuso bunamahlama atyunayo kwaye bhengeze amajoni
Abantu abaneentlobo zezifo ze-Menkes, ezifana ne-X-linked cutis laxa, abanakho ukufumana zonke iimpawu okanye abanakho ukuba babe namadidi ahlukeneyo.
Ukuxilongwa
Iintsana ezizalwe ngesifo seMenkes esiqhelekileyo zibonakala ziqhelekileyo ekuzalweni, kuquka neenwele zabo. Abazali kaninzi baqala ukukrokra into engalunganga xa umntwana wabo uneminyaka emibili okanye emithathu ubudala, xa utshintsho luqala ukuvela. Kwiifom ezinamandla, iimpawu ezingabonakali zingabikho komntwana. Abafazi abathwala i-gene defective bazinwele iinwele, kodwa kungekho rhoqo. Nantsi into ogqirha abafuna ukuyenza ngayo:
- Ubunzima beethusi kunye ne-ceruloplasmin egazini, emva kokuba umntwana sele eveki ezintandathu (kungekhona ukuxilongwa ngaphambili)
- Amanqanaba obhedu aphezulu kwi-placenta (ingahlolwa kwiintsana)
- Amanqanaba aqhelekileyo eeketechol egazini kunye ne- cerebrospinal fluid (CSF), kwintsana
- I-biopsy yesikhumba inokuvavanya ityhubhu yamathambo
- Ukuhlolwa kweenwele ezincinci kuza kubonisa iMenkes engafanelekiyo
Izinyango Zonyango
Ekubeni iMenkes ithintela ubuchule bokubhedu ukuya kwiiseli zomzimba kunye nezitho, ngoko, ngokuqinisekileyo, ukufumana ubhedu kwiiseli kunye nezitho eziyidingayo kufuneka zikuncede ukuguqula ingxaki, ngokufanelekileyo Akunjalo lula.
Abaphandi baye bazama ukunika iinjengesilwane zeetramuscular zethusi, kunye neziphumo ezidibeneyo. Kubonakala ngathi ekuqaleni kwimeko yesifo esinikezwayo, i-positive results. Iifom zezifo zesifo ziphendula kakuhle, kodwa ifom enkulu ayibonakali utshintsho olukhulu. Le fom yeyeza, kunye nabanye, isaphenywa.
Unyango lujoliswe ekunciphiseni iimpawu. Ukongeza kwiingcali zonyango, unyango lomzimba kunye nokusebenza kunokuncedisa ukwandisa amandla. Isondlo sesondlo okanye isidlo sezondlo siya kuncoma ukutya okuphezulu-khalori, ngokuqhelekileyo kunye nezongezelelo ezongeziweyo kumntwana wefomula.
Ukuhlolwa kwe- Genetic yentsapho yomntu kuya kubonakalisa izithuthi kunye nokubonelela ngeengcebiso kunye nokukhokelwa malunga neengozi zokubuyela.
Ukuba umntwana wakho ufumene ukuba unesifo seMenkes, unokufuna ukuthetha nodokotela wakho ngokuhlola i-genetic yakho intsapho. Ukuhlola ichonga izithuthi kwaye kunokunceda ugqirha wakho unikele ngcebiso kunye nesikhokelo malunga neengozi zokuphindaphinda, ezimalunga nokukhulelwa ezine. Ukuqhelana ne-Menkes Foundation, inhlangano engenzi nzuzo kwiintsapho ezichaphazelekayo yiMenkes Disease, inokukunceda ufumane inkxaso.
Imithombo:
Kaler, SG (2002). Izifo zezinwele zesikhumba zeMenkes. eMedicine.
IMenkes Foundation. (nd). Uhlolo loPhando.