Matenda Achibadwa Amene Amakhudza Mitsempha Yamkuwa
Matenda a Menkes ndi achilendo, omwe amachititsa kuti thupi likhoza kuyamwa mkuwa. Phunzirani za chiyambi cha matendawa, kuphatikizapo zizindikiro, matenda ndi matenda.
Chiyambi
Mu 1962, dokotala wina dzina lake John Menkes ndi anzake a ku University of Columbia ku New York anafalitsa nkhani ya sayansi yokhudza ana asanu aamuna omwe ali ndi matenda osiyanasiyana.
Matendawa, omwe masiku ano amadziwika kuti Matenda a Menkes, Menkes kinky tsitsi kapena Menkes matenda, amadziwika ngati matenda a metabolism mumkuwa.
Popeza anthu omwe ali ndi matendawa sangathe kuyamwa mkuwa, ubongo, chiwindi ndi magazi a m'magazi zimachotsedwa mcherewu. Mofananamo, ziwalo zina za thupi, kuphatikizapo impso, nthenda ndi mafupa zimaphatikizapo mkuwa wambiri.
Ndani Amalandira Matenda a Menkes?
Matenda a Menkes amapezeka m'mitundu yonse. Jini likuphatikizidwa ndi chromosome X (yaikazi), zomwe zikutanthauza kuti amuna ndi omwe amakhudzidwa ndi matendawa. Amuna omwe amanyamula chiwalo cha jini alibe zizindikiro pokhapokha pali zina zina zachilendo zomwe zimakhalapo. Matenda a Menkes amachitika paliponse kuchokera kwa munthu mmodzi pa 100,000 kubadwa kwa munthu mmodzi mwa 250,000 kubadwa kumene.
Zizindikiro
Pali kusiyana kwakukulu kwa matenda a Menkes, ndipo zizindikiro zimatha kukhala zochepa mpaka zochepa.
Fomu yovuta kapena yapamwamba imakhala ndi zizindikiro zosiyana, kawirikawiri zimayambira pamene wina ali pafupi miyezi iwiri kapena itatu. Zizindikiro zikuphatikizapo:
- Kutayika kwa zochitika zazikuluzikulu (mwachitsanzo, mwana sangathenso kugwidwa)
- Mitundu imakhala yofooka ndi "floppy," ndi mawu otsika kwambiri
- Kugonjetsa
- Kukula kosauka
- Tsitsi lachikopa ndi lalifupi, laling'ono, losalala, lopotoka (lofanana ndi waya) ndipo lingakhale loyera kapena loyera
- Nkhope ili ndi masaya osakaniza ndipo imatchula mbalame
Anthu omwe ali ndi matenda osiyanasiyana a Menkes, monga X-linked cutis laxa, sangakhale nawo zizindikiro zonse kapena akhoza kukhala nawo madigiri osiyanasiyana.
Kudziwa
Ana obadwa ndi matenda a Menkes akale amawoneka achibadwa pakubereka, kuphatikizapo tsitsi lawo. Nthawi zambiri makolo amayamba kukayikira kuti pali chinachake cholakwika pamene mwana wawo ali ndi miyezi iwiri kapena itatu, pamene kusintha kumayamba kuchitika. Mu mawonekedwe oopsa, zizindikiro sizikhoza kuwonekera mpaka mwanayo atakula. Azimayi amene ali ndi jini lopunduka amakhala ndi tsitsi lopotoka, koma osati nthawi zonse. Apa pali zomwe madokotala amafuna kuti adziwe:
- Mkuwa wamtengo wapatali ndi ceruloplasmin m'magazi, mwanayo atakhala ndi masabata asanu ndi limodzi (osati kusamalidwa kale)
- Mkuwa wammwamba mu placenta (akhoza kuyesedwa kwa ana obadwa)
- Mankhwala osakanizika amtundu wambiri m'magazi ndi mchere wambiri (CSF), ngakhale mwana wakhanda
- Chikopa cha khungu chingayese mkuwa wa metabolism
- Kuwonetsa tsitsi kumapangitsa kuti Menkes azilephera
Njira Zothandizira
Popeza Menkes amalepheretsa mkuwa kufika ku maselo ndi ziwalo za thupi, ndiye, mwachiwonekere, kupeza mkuwa ku maselo ndi ziwalo zomwe zikufunikira izi ziyenera kuthandizira kuthetsa vutoli, pomwe siloli lophweka.
Ochita kafukufuku ayesa kupereka injection zamakono zamkuwa, ndi zotsatira zosiyana. Zikuwoneka kuti zoyambirira za matenda omwe majekeseni amaperekedwa, ndi zotsatira zabwino kwambiri. Mitundu yowopsya ya matendayo imayankha bwino, koma mawonekedwe aakulu samasonyeza kusintha kwakukulu. Njira iyi ya mankhwala, komanso ena, ikufufuzidwabe.
Chithandizo chikugwiritsanso ntchito kuthetsa zizindikiro. Kuphatikiza kwa akatswiri azachipatala, mankhwala ndi zamagwira ntchito zingathandize kuti pakhale mwayi. Wopatsa thanzi kapena odyetserako zakudya amalimbikitsa chakudya chambiri chokoma, nthawi zambiri ndi zowonjezeretsa zowonjezeredwa kwa mwana wothandizira.
Kuwonetsetsa kwaumwini kwa banja laumwini kudzazindikiritsa ogwira ntchito ndi kupereka uphungu ndi chitsogozo pa zoopsa zobwereza.
Ngati mwana wanu akupezeka kuti ali ndi matenda a Menkes, mungafune kuyankhula ndi dokotala wanu zokhudza maonekedwe a chibadwa kwa banja lanu. Kuwunikira kudzazindikiritsa othandizira ndipo zingathandize dokotala kupereka uphungu ndi uphungu pa zoopsa zomwe zingabwererenso, zomwe ziri pafupi mimba imodzi iliyonse. Kudziwa bwino Menkes Foundation, bungwe lopanda phindu la mabanja lomwe limakhudzidwa ndi Menkes Matenda, lingakuthandizeni kupeza chithandizo.
Zotsatira:
Kaler, SG (2002). Menkes kinky matenda a tsitsi. eMedicine.
Menkes Foundation. (nd). Zofufuza Zambiri.