Syndrome Menkes: ofotokoza ndi matenda

Menkes syndrome, amene amatchedwanso matenda lopotana tsitsi - ochepa chabe kwambiri majini matenda. Zingamvekere anyamata ndi, mwatsoka, si ankachitira.

The zimayambitsa matenda

Menkes syndrome chifukwa cha zosayenera uziyenda ATR7A mbewu. Chifukwa cha anomaly thupi si kuyamwa mkuwa, amene waikamo mu impso, ndi matupi ena onse akupanikizika aakulu madzi, kulandira chiwonongeko mofulumira. Choyamba, amadwala mtima, ubongo, mafupa, mitsempha, ndi tsitsi. Matendawa anatengera chosowa kwambiri. chiopsezo ndi za 1 miliyoni 50-100 ndipo anagawira makamaka amuna. Ana syndrome wamkazi pafupifupi zimachokeradi.

Zizindikiro zoyambirira za matenda Menkes

Mwana wobadwa ndi matenda, zikuwoneka ndipo amamva akukhuzidwa mu masabata loyamba la moyo. Izo zinali kokha mwezi wachitatu zizindikiro kuoneka, kusonyeza kuti mwana akufotokozera syndrome Menkes:

• Lopotana tsitsi m'malo wagwa pansi khanda pang'ono. Iwo n'zochepa kwambiri ndi kowala. Pa anayendera pafupi zikuonekeratu kuti tsitsi ndi osalimba kwambiri ndi zapiringizana. Iwo amayang'ana kukhumuditsidwa. Zapiringizana monga tsitsi ndi nsidze.
• Khungu ndi chosakhala pallor.
• Baby maso plump ndithu.
• Bridge mphuno ndi lathyathyathya.
• Adatchithisira kutentha.
• Kudyetsa mwanayo mabvuto. Kudya pafupifupi woteroyo. Komanso, pali chakuti makhalidwe matumbo.
• Mwana chabe, tulo ndi waulesi, nkhope yake ikusonyeza pafupifupi munthu kutengeka. Pali zizindikiro onse mphwayi.
• Baby zambiri akundizunza omangana.
• Child kwambiri zomwe zikutsalirazi kumbuyo anzawo salinso kuchita chimene kale anakwanitsa kuphunzira.

matenda a matendawa

Tikumbukenso kuti ambiri osowa matenda ndi zovuta matenda. Chifukwa chimodzi - kuzindikira osauka madokotala ana. Pa nkhani ya Menkes syndrome dokotala Lingatithandize ndi mtundu osaka mwana tsitsi. Kuwulula zizindikiro ndi omangana, amene nthawi kuwonekera mwanayo.

Ambiri zizindikiro pamwamba zimachitika matenda ena zochepa kwambiri oopsa. Choncho, kuwapeza mantha mwana wanu sikofunika. Koma m'pofunika kufufuza izo. The mitundu ikuluikulu ya diagnostics Menkes syndrome ndi magazi kuti Kuchuluka kwa kukhalapo mu izo zamkuwa ndi X-ray mafupa, amene tingasonyeze kusintha makhalidwe awo.

kupewa matenda

Mwatsoka, syndrome kupewa njira Menkes mankhwala sanabadwe anatulukira. Pachiopsezo - makanda aamuna amene anali ndi achibale ndi matenda. Kudziwa matenda pa siteji oyambirira chitukuko wosabadwayo, ndi zambiri kuli kovuta kupewa. Kumene, ena akazi atadzifunsa funso ngati n'zotheka kukonzekera mimba ndi Menkes syndrome mu banja mwamuna wake? Yankho kwa ici ndikhoza kungopereka zachibadwa bwino, amene kudzasanthulira ubwino ndi kuipa kwake, adzakhala oterewa, lembani "majini mtengo" ndiyeno yekha kulengeza digiri ya chiopsezo. Iwo m'pofunika kuti atenge kusankha pa kulera ana okha atakambirana ndi akatswiri.

Chithandizo lopotana matenda tsitsi

Mwatsoka, Menkes syndrome ndi matenda osachiritsika. Mapa pa kovuta. matenda amakula mwamsanga, kuchititsa inasinthiratu mu thupi. Kuwonjezera retardation maganizo, amene nthawi limodzi ndi syndrome ndi, kumabwezera mmbuyo chitukuko ya ubongo, mkhutu ntchito mtima, kusintha Mafupa.

Menkes syndrome moyo waufupi. Ana ambiri amafa pambuyo zaka ziwiri kapena zitatu pambuyo pa kubadwa. Nthawi zambiri zimachitika mwadzidzidzi - pa maziko a bata ambiri - chibayo, matenda ndi chotupa Mitsempha.

Ngakhale mankhwala monga mankhwala ngati sakudziwa ndi njira zosiyana atsogolere alili. Ichi ndi kotunga yokumba mkuwa thupi, amene chikuyendetsedwera m'nsinga. mankhwala izi kumalepheretsa chitukuko cha matenda mwina kumatha zizindikiro. Koma phunziro yekha za chiyambi yake ya iye - ndicho, kuyambira masiku oyambirira kapena masabata ambiri a moyo (mpaka inasinthiratu mu ubongo). Kuti, mwatsoka, ndi kovuta - Ndipotu chitsanzo symptomatic limapezeka miyezi itatu. Nthawi zina, madokotala angathe kupereka chithandizo yekha wothandiza.

kawirikawiri, koma zimachitika kuti Menkes syndrome kumachitika mu mawonekedwe wofatsa. mtundu uwu matenda amatchedwa occipital nyanga syndrome ndi wofanana ndi kuwonongedwa kwa minofu connective. Odwala matenda izi si zomwe zikutsalirazi kumbuyo chitukuko maganizo, koma zotsatira akadali ndi womvetsa chisoni. The matenda yekha iyamba kukhala patapita nthawi yaitali kuposa: pafupi usinkhu wa zaka khumi.