I-Genetic Disorder Ehlasela I-Copper Metabolism
Isifo se-Menkes yisifo esingajwayelekile, esivame ukubulala isifo segazi esithinta ikhono lomzimba lokuthola ithusi. Funda ngemvelaphi yesifo, kanye nezimpawu, ukuxilongwa kanye nokwelapha.
Iziqalo
Ngo-1962, udokotela ogama lakhe linguJohn Menkes nabasebenza naye e-Columbia University eNew York bathicilela isihloko sezesayensi mayelana nezinsana ezinhlanu zesilisa ezinesifo esiyingqayizivele se-genetic syndrome.
Le syndrome, manje eyaziwa ngokuthi yisifo seMenkes, isifo sezinwele ze-Menkes noma iMenkes syndrome, siye sabhekwa njengesiyaluyalu se-metabolism yethusi emzimbeni.
Njengoba abantu abanalesi sifo bengenakuthola kahle ithusi, ubuchopho, isibindi kanye ne-plasma yegazi abanjwe umsoco obalulekile. Ngokufanayo, ezinye izingxenye zomzimba, kuhlanganise nezinso, isiphazamisi nesisipha samathambo siqoqa ithusi eliningi kakhulu.
Ubani Othola Izifo ZaseMenkes?
Isifo seMenkes senziwa kubantu bazo zonke izinhlanga. Isakhi esithintekayo sise-X (esifazane) i-chromosome, okusho ukuthi abesilisa ngokuvamile bayabathinteka yi-disorder. Abesifazane abathwala isici sofuzo ngokuvamile abanalo izimpawu ngaphandle kokuthi ezinye izimo zofuzo ezingavamile zikhona. I-Menkes isifo esilinganiselwa ukuthi senzeke kunoma yimuphi umuntu ngokuzalwa kwabantu abayi-100 000 kuya kokuzalwa kwabantu abangu-250,000.
Izimpawu
Kunezinhlobo eziningi zesifo seMenkes, futhi izimpawu zingase zibe phakathi komnene kuze kube nzima.
Ifomu eliqinile noma elivamile linempawu ezihlukile, ngokuvamile ziqala uma othile eneminyaka emibili noma emithathu ubudala. Izimpawu zihlanganisa:
- Ukulahlekelwa izinyathelo zokuthuthukiswa (isibonelo, ingane ayisakwazi ukubambelela)
- Imisipha ibe buthakathaka futhi "i-floppy," enezwi eliphansi le-muscle
- Ukuzizwa
- Ukukhula okubi
- Izinwele ze-scalp zifushane, zimbalwa, ziqinile futhi zisontekile (zifana nezintambo) futhi zingaba mhlophe noma zimpunga
- Ubuso bunamahlumela ahlambalaza futhi bubiza amajowl
Abantu abanezifo ezihlukahlukene zezifo ze-Menkes, njenge-X-linked cutis laxa, kungenzeka ukuthi abanalo zonke izimpawu noma bangaba nazo ezilinganisweni ezahlukene.
Ukuxilongwa
Amantombazane azalwa nge-Menkes isifo esidala avela evamile ngesikhathi sokuzalwa, kuhlanganise nezinwele zabo. Ngokuvamile abazali baqala ukusola ukuthi kukhona okungalungile lapho ingane yabo iphakathi kwezinyanga ezimbili noma ezintathu ubudala, lapho izinguquko ziqala ukuqala. Ezimweni ezinamandla, izimpawu kungenzeka zingabonakali kuze kube yilapho ingane ikhulile. Abesifazane abathwala isakhi sofuba bangase babe nezinwele ezisontekile, kodwa hhayi njalo. Nansi ukuthi odokotela bafuna ukuthola ukuxilongwa:
- Izinga elincane le-copper ne-ceruloplasmin egazini, ngemuva kokuba ingane inamasonto ayisithupha ubudala (hhayi ukuxilongwa ngaphambi kwalokho)
- Amazinga aphezulu oketshezi e-placenta (angahlolwa emazinsana)
- Amazinga e-catechol engavamile egazini nase- cerebrospinal fluid (CSF), ngisho nasesana esanda kuzalwa
- I-skin biopsy ingavivinya umzimba we-copper
- Ukuhlolwa kwezinwele ezincane okuzobonisa ukuthi iMenkes ayinakukhubazeka
Izinketho zokwelapha
Njengoba uMenkes evimbela ikhono lokwenza ithusi ukuze afike emzimbeni nasemzimbeni, ngakho-ke, ngokusobala, ukuthola ithusi kumaseli kanye nezitho ezidinga lokho kufanele kusize ukuguqula lesi sifo, kwesokudla Akulula kakhulu.
Abacwaningi baye bazama ukuhlinzeka ngezigulane zethusi, ngemiphumela ehlanganisiwe. Kubonakala sengathi esikhathini esidlule esifundeni sesifo lapho kuhlinzekwa khona imijovo, imiphumela emihle kakhulu. Izinhlobo ze-Milder zesifo ziphendula kahle, kodwa ifomu elibi alibonisi ushintsho olukhulu. Leli fomu yokwelapha, kanye nabanye, lisaphenywa.
Ukwelashwa kugxile ekunciphiseni izimpawu. Ngaphandle kochwepheshe bezokwelapha, ukwelashwa ngokomzimba nangokwenyama kungasiza ekukhuliseni amandla. Umuntu odla ukudla okunomsoco noma odlayo uyodinga ukudla okuphezulu kwekhalori, ngokuvamile okunezithako ezongezwe kumntwana wefomula.
Ukuhlolwa komzimba womndeni womuntu kuzothola abathwali futhi banikeze ukwelulekwa kanye nokuqondiswa mayelana nezingozi eziphindaphindiwe.
Uma ingane yakho ithola ukuthi unesifo se-Menkes, ungase ufune ukukhuluma nodokotela wakho mayelana nokuhlolwa kofuzo emndenini wakho. Ukuhlolwa kuzokukhomba abathwali futhi kungasiza udokotela wakho ukuhlinzeka ngokululekwa nokuqondiswa ngezingozi eziphindaphindiwe, okuphathelene nokukhulelwa okukodwa kokubili. Ukujwayela i-Menkes Foundation, inhlangano engenzi inzuzo yemikhaya eyathinteka yiMenkes Disease, ingakusiza ukuthola ukwesekwa.
Imithombo:
I-Kaler, SG (2002). Izifo zezinwele zesikhumba ze-Menkes. eMedicine.
I-Menkes Foundation. (nd). Ukubuka Okucwaninga.