Kodi mwana wanu ali ndi tsitsi lopotana modabwitsa? Tiyeni tiphunzire za Matenda a Menkes!

Kodi munayamba mwaonapo kuti tsitsi la mwana wanu wamng'ono ndi lachilendo kwambiri, lopindika ngati waya, lowala, komanso losweka mosavuta? Kapena thupi la mwana wanu limakhala lomasuka komanso lozizira? Ngakhale kuti izi ndi zinthu zomwe nthawi zina sitiziganizira kwambiri, zitha kukhala zizindikiro zoyamba za matenda ena osowa. Mwachitsanzo, matenda omwe angachitike mwa makanda, koma osanenedwa kwambiri, amatchedwa Matenda a Menkes. Tiyeni tikambirane za izi mwatsatanetsatane lero.

Kodi Matenda a Menkes ndi chiyani? Mwachidule...

Matenda a Menke ndi matenda a majini . Amatanthauza kuti mwana amabadwa nawo. Chomwe chimachitika pamenepa ndi chakuti thupi silingagwiritse ntchito bwino mkuwa wofunikira. Tsopano mwina mukuganiza kuti, "Kodi mkuwa ndi chiyani?" Kwenikweni, mkuwa ndi chinthu chomwe chimathandiza machitidwe ambiri ofunikira m'thupi lathu kugwira ntchito bwino. Taganizirani izi:

• Thupi lathu la mitsempha (ndiko kuti, ubongo ndi mitsempha yomwe imayenda m'thupi lonse) ziyenera kugwira ntchito bwino.
• Sungani mafupa athu olimba.
• Tsitsi ndi khungu lathu likhale lathanzi.
• Mitsempha yathu ya magazi (komwe magazi amatuluka) iyenera kugwira ntchito bwino.

Mkuwa ndi wofunikira pa zonsezi. Chifukwa chake, popeza thupi la mwana yemwe ali ndi matenda a Menkes siligwiritsa ntchito mkuwa bwino, ukhoza kuwononga kwambiri, makamaka mitsempha. Izi zimapangitsa kuti kukula kwa mwana kuchepe komanso thupi lifooke. Chomvetsa chisoni n'chakuti, matendawa akhoza kukhala oopsa .

Mu matenda amenewa, tsitsi la mwana limakhala lopota modabwitsa ndipo limaoneka ngati waya, kotero anthu ena amalitcha "matenda a tsitsi opindika."

Chofunika kwambiri ndichakuti palibe mankhwala athunthu a matendawa pakadali pano. Komabe, ngati chithandizo cha mkuwa chayamba mkati mwa milungu inayi yoyambirira kuchokera pamene mwana wabadwa, n'zotheka kuchepetsa zizindikiro ndikuwonjezera moyo wa mwana pang'ono. Chifukwa chake, kuzindikira msanga ndikofunikira kwambiri.

Kodi matenda a Menkes ndi ofala bwanji?

Padziko lonse lapansi, kale anthu ankaganiza kuti mwana mmodzi pa ana 100,000 aliwonse obadwa kumene akhoza kukhala ndi matendawa. Zimenezi zikutanthauza kuti mwana mmodzi pa ana awiri ndi theka miliyoni akhoza kukhala ndi matendawa.

Komabe, kafukufuku watsopano womwe unachitika mu 2020 pogwiritsa ntchito deta kuchokera ku Genome Aggregation Database adapeza kuti chiwerengerochi chikhoza kukhala chokwera kwambiri. Chifukwa chake, akuti mwana mmodzi mwa ana 8,664 aamuna ku United States kokha, kapena makanda pafupifupi 225 pachaka, akhoza kukhala ndi vutoli.

Ngati njira zoyezera ana obadwa kumene zidzapangidwa mtsogolo, ziwerengerozi zidzatsimikizika kwambiri ndipo zidzakhala zotheka kuzindikira matendawa msanga ndikuyamba kulandira chithandizo.

Ndani amene ali ndi mwayi waukulu wopeza matendawa?

Matenda a Menkes ndi ofala kwambiri mwa anyamata.Ndi lomwe limakhudza kwambiri. Koma lingakhudze mtundu uliwonse, fuko lililonse.

Kodi zizindikiro za matenda a Menkes ndi ziti?

Makanda omwe ali ndi matenda a Menkes nthawi zina amabadwa msanga . Amaoneka ngati athanzi akamabadwa.

Komabe, zizindikiro zoyamba zimayamba kuonekera ali ndi miyezi iwiri kapena itatu . Izi ndi izi:

• Tsitsi la Kinky ndi mtundu wa tsitsi lopotana, lopindika, komanso lozungulira. Tsitsi ili ndi mtundu wowala kwambiri, nthawi zina loyera kapena la imvi. Limaswekanso mosavuta.
• Kuchepa kwa minofu (Hypotonia): Izi zikutanthauza kuti thupi la mwana ndi lofooka kwambiri. Limaoneka ngati lopanda moyo.
• Kutentha thupi kochepa (Hypothermia): Thupi la mwana limakhala lozizira nthawi zonse.
• Nkhopeyo imawoneka yowerama .
• Zizindikiro za khunyu (khunyu/khunyu) , kutanthauza matenda monga khunyu.
• Kukula pang'onopang'ono komanso kulephera kukula bwino: Mwana sakukula bwino ndipo sakulemera .
• Kutuluka kwachikasu pakhungu ndi maso (jaundice).

Zizindikiro zimenezi sizimawonekera mwa khanda lililonse nthawi imodzi. Nthawi zina, ngakhale kuti sizimachitika kawirikawiri, zizindikirozi zimatha kuwonekera paunyamata kapena ngakhale paunyamata.

Kodi mavuto omwe angakhalepo chifukwa cha Menkes Syndrome ndi ati?

Menkes Syndrome ndi matenda a mitsempha omwe amawononga pang'onopang'ono dongosolo la mitsempha . Izi zikutanthauza kuti pakapita nthawi, mavuto a kuzindikira amakula mu ubongo ndi luso loganiza. Ana ndi akuluakulu omwe ali ndi matendawa amatha kukhala ndi mavuto monga:

• Mavuto monga kutuluka magazi muubongo (subdural hematomas) .
• Diverticulosis ndi kukula kwa matumba ang'onoang'ono omwe amatuluka m'makoma a matumbo kapena chikhodzodzo.
• Kupangidwa kwa mafupa ang'onoang'ono kwambiri (mafupa a Wormian) mu chigaza.
• Kutaya luso loyendetsa galimoto .
• Matenda a mafupa otchedwa osteoporosis ndi matenda omwe amachititsa kuti mafupa azifooka komanso kusweka, zomwe zimapangitsa kuti zikhale zosavuta kusweka.
• Matenda a arterial tortuosity .

Pali mfundo yofunika kunena apa. Nthawi zina, mwana akatuluka magazi muubongo kapena mafupa osweka, madokotala angaganize kuti mwanayo akuzunzidwa. Ngati mukudziwa kuti mwana wanu ali pamalo otetezeka, koma akuwonetsa zizindikirozi, lankhulani ndi dokotala wanu ndikukambirana za kuyezetsa matenda a Menkes.

Kodi Occipital Horn Syndrome (OHS) ndi chiyani?

Matenda a Mphuno ya M'maso (OHS) ndi mtundu wofatsa wa Matenda a Menkes.Izi zikutanthauza kuti zizindikiro zake si zazikulu kwambiri. Nthawi zambiri zimapezeka mwana akakhala ndi zaka zapakati pa 5 ndi 10.

Kuwonjezera pa zizindikiro zochepa za Matenda a Menkes, ana omwe ali ndi OHS angakumanenso ndi izi:

• Nyanga za m'chiuno: Izi ndi zinthu zofanana ndi nyanga zomwe zimapangidwa ndi calcium yomwe ili pansi pa chigaza.
• Dysautonomia: Vuto la mitsempha lomwe limakhudza zinthu monga kuthamanga kwa magazi ndi kukhazikika kwa thupi.
• Kumasuka kwa mafupa ndi khungu.
• Mavuto ang'onoang'ono okhudza luso loganiza.

Kodi n’chiyani chimayambitsa matenda a Menkes?

Monga tanenera kale, Matenda a Menkes ndi matenda a majini . Ndiko kuti, amapezeka pobadwa. Pafupifupi magawo awiri mwa atatu a milandu, amayamba chifukwa cha jini yolakwika yochokera kwa mayi . Pafupifupi gawo limodzi mwa magawo atatu a milandu, matendawa amayamba chifukwa cha kusintha kwatsopano kwa jini yotchedwa ATP7A.

Jini yomwe imayambitsa matendawa imatchedwa `ATP7A`, yomwe imakhudza kupanga mapuloteni omwe amalamulira kuchuluka kwa mkuwa m'thupi lathu. Chifukwa chake jini iyi ya `ATP7A` sigwira ntchito bwino, thupi lathu silingathe 'kunyamula' mkuwa bwino.

Anyamata ali ndi mwayi waukulu wolandira jini iyi chifukwa Menkes Syndrome ndi matenda a majini olumikizidwa ndi X. Anyamata ali ndi chromosome imodzi ya X. Choncho ngati pali jini yolakwika, matendawa amayamba. Atsikana ali ndi ma chromosome awiri a X, kotero kuti matendawa apitirire, majini onse awiri olakwika ayenera kulandira cholowa.

Kodi madokotala amazindikira bwanji matenda a Menkes?

Kuti adziwe matenda a Menkes, dokotalayo ayenera kaye kumuyesa mwanayo. Makamaka, adzayang'anira tsitsi lofooka komanso lopotana . Adzafunsanso za zizindikiro ndi mbiri ya matenda a m'banja. Mwanayo angayesedwenso kuti adziwe ngati ali ndi:

• Kuyezetsa magazi: Kuyezetsa magazi kumatengedwa kuti kuone ngati pali mkuwa wochepa, ceruloplasmin (puloteni yomwe imanyamula mkuwa), ndi catecholamines, mahomoni omwe amathandiza kulamulira mayendedwe a minofu ndi malingaliro.
• Kujambula kwa CT kapena X-ray: Izi zimayang'ana mafupa ang'onoang'ono opindika (mafupa a wormian) m'chigaza cha mwana. Izi zimachitika chifukwa cha mavuto a minofu yolumikizana yomwe imayamba chifukwa cha kusowa kwa mkuwa.
• Kuyeza khungu: Chitsanzo chochepa kwambiri cha khungu la mwana chimatengedwa ndikuyang'aniridwa pogwiritsa ntchito maikulosikopu kuti awone momwe thupi la mwanayo limagwiritsira ntchito mkuwa.
• Ultrasound: Izi zimagwiritsidwa ntchito pofufuza chikhodzodzo. Diverticula, yomwe ndi matumba omwe amatuluka m'chikhodzodzo, ndi vuto lofala la Menkes Syndrome.
• Kuyesa mkodzo: Kuyesaku kumayesa kuchuluka kwa ma asidi enaake (HVA/VMA) mu mkodzo. Kuchuluka kwa ma asidi amenewa kumasiyana malinga ndi ntchito ya enzyme yodalira mkuwa.

Kodi mwana wanga angayesedwe majini kuti adziwe matenda a Menkes?

Ofufuza akuyesetsabe kupeza njira zatsopano zodziwira matenda a Menkes msanga. Kuyesa majini komwe kumayang'ana kusintha kwa majini a ATP7A ndi njira imodzi yochitira izi.

Kodi madokotala amachiritsa bwanji matenda a Menkes?

Kuti chithandizo chikhale chothandiza kwambiri, chiyenera kuyambika mkati mwa masiku 25 mpaka 28 kuchokera pamene mwana wabadwa . Kupambana kwa chithandizo kumadalira momwe kusintha kwa majini a `ATP7A` kulili koopsa.

Madokotala amapatsa ana omwe ali ndi matenda a Menkes mankhwala olowa m'malo mwa mkuwa otchedwa copper histidine ngati jakisoni wa subcutaneous . Cholinga cha chithandizochi ndikuwonjezera kuchuluka kwa mkuwa m'magazi. Zingathandizenso kuchepetsa kuwonongeka kwa mitsempha, kuchepetsa matenda monga khunyu, ndikuwonjezera moyo wa mwana.

Kodi ndingathe bwanji kuthana ndi zizindikiro za mwana wanga?

Popeza palibe mankhwala a Menkes Disease, madokotala amayang'ana kwambiri pa kuthana ndi zizindikiro. Gulu lachipatala lomwe limathandiza mwana wanu lingachite zinthu monga:

• Kupereka mankhwala oletsa khunyu.
• Zakudya zopatsa thanzi m'mimba ndi kupatsa mwana chakudya kudzera mu chubu kuti athandize kuyamwa bwino michere.
• Kulimbikitsa chithandizo cha thupi kapena chithandizo cha ntchito .
• Kulemba mankhwala ochepetsa ululu .

Kodi tsogolo la anthu omwe ali ndi matenda a Menkes ndi lotani?

Ngati chithandizo sichinayambike msanga, ana omwe ali ndi matenda a Menkes nthawi zambiri amakhala ndi moyo wosakwana zaka zitatu .

Ngakhale mutalandira chithandizo, zizindikiro za matenda a Menkes zimatha kukulirakulira pakapita nthawi. Ngakhale anyamata omwe ali ndi vutoli omwe amalandira chithandizo amatha kukhala ndi moyo zaka 10 kapena kuchepera.

Kodi Matenda a Menkes Angapewedwe?

Tsoka ilo, Matenda a Menkes sangapewedwe . Ngati muli ndi wachibale kapena mwana amene ali ndi vutoli, ndikofunikira kulankhula ndi dokotala ndikupeza upangiri wa majini .

Musanayambe kutenga pakati, mutha kuyesedwa majini (kuyesedwa kwa majini / DNA) kuti mudziwe ngati muli ndi jini yomwe imayambitsa matenda a Menkes. Izi zingakuthandizeni pokonzekera banja.

Kodi muyenera kupita kwa dokotala liti pankhani ya matenda a Menkes?

Ngati mukuganiza kuti mwana wanu ali ndi zizindikiro za matenda a Menkes, pitani kwa dokotala nthawi yomweyo . Kuzindikira msanga kungathandize kuti ana omwe ali ndi vutoli akhale ndi moyo wabwino.

Popeza matenda a Menkes amabadwa nawo kudzera mu X-chromosome, akazi amatha kuyesedwa DNA kuti adziwe ngati ali ndi jini yomwe imayambitsa matendawa. Ndibwino kulankhula ndi dokotala wanu za upangiri wa majini musanayambe kukhala ndi ana.

Ngati mwana wanu ali ndi Matenda a Menkes, lankhulani ndi dokotala wanu za njira zabwino zothanirana ndi zizindikiro ndikukweza moyo wanu. Ngakhale kuti palibe mankhwala a Matenda a Menkes, madokotala akugwira ntchito mwakhama kuti apeze njira zatsopano zodziwira ndikuchiza vutoli. Komanso, kulowa m'magulu othandizira makolo a ana omwe ali ndi Matenda a Menkes ndi njira yabwino yogawana zomwe akumana nazo ndikupeza chitonthozo.

Zinthu zofunika kwambiri kukumbukira (Uthenga Wopita Nawo Kunyumba)

Chabwino, tiyeni tifotokoze mwachidule zina mwa zinthu zomwe muyenera kukumbukira kuchokera pa zomwe takambirana:

• Matenda a Menkes ndi matenda a majini omwe amachititsa kuti thupi lisagwiritse ntchito mkuwa moyenera.
• Izi zimachitika kwambiri mwa anyamata .
• Ngati tsitsi la mwana wanu likupindika mwanjira yachilendo, lakhala lopepuka, losalimba, kapena lachedwa kukula, funsani dokotala nthawi yomweyo.
• Ndikofunikira kwambiri kuzindikira matendawa ndikuyamba kulandira chithandizo msanga . Ndi bwino ngati chithandizo chayamba mkati mwa milungu inayi yoyambirira kuchokera pamene mwana wabadwa.
• Ngakhale kuti palibe mankhwala athunthu, pali mankhwala oletsa zizindikiro ndi kutalikitsa moyo .
• Ngati muli ndi mbiri ya matenda amenewa m'banja mwanu, ndi bwino kufunafuna uphungu wa majini .

Ndikukhulupirira kuti izi zikuthandizani. Ngati muli ndi kukayikira kulikonse, sikuchedwa kulankhula ndi dokotala.

Matenda a Menkes, Mkuwa, Matenda a majini, Matenda a ana, Thupi la mitsempha, Tsitsi lopotana, ATP7A