Menkes syndrome: inkcazelo kunye isifo

Menkes syndrome, ekwabizwa ngokuba iinwele isifo lokuvala - iseliswelekile kanye sibi kakhulu nesifo yemfuza. Ichaphazela bafana, ngelishwa, ayikwazi ngayo.

Izinto ezibangela izifo

Menkes syndrome kubangelwa ezingafanelekanga ukusebenza ATR7A sofuzo. Ngenxa yokuba umzimba anomaly akuthethi ukufunxa ubhedu, nto leyo lifakwa nezintso, yaye onke amanye amaqumrhu amazwe ebehlelwe ntshikilelo kakhulu amanzi, bajamelene intshabalalo ekhawulezileyo. Kuqala kwinto zonke, nyamezela ukususela ngentliziyo, ingqondo, amathambo, imithambo, yaye neenwele. Esi sifo ilifa kwaye kunqabile kakhulu. Umngcipheko imalunga-1 ngo-50-100 yezigidi kwaye isasazwe kakhulu ngabantu. In ababhinqileyo abantwana syndrome ngokoqobo lungenzeki.

Iimpawu zokuqala Menkes syndrome

Umntwana ozelwe nesi sifo, ikhangeleka yaye uvakalelwa ngokupheleleyo abaqhelekileyo kwi kwiiveki zokuqala yobomi. Yaba kuphela ngenyanga yesithathu iimpawu kubonakala, ebonisa ukuba usana luye Menkes syndrome:

• iinwele olugobileyo kwi ndawo uwe phantsi yosana kancinane. Bona ezinqabileyo kakhulu kwaye eliqaqambileyo. On sihlolisisa kuyacaca ukuba iinwele ulula kakhulu kwaye munye. Zibonakala bedidekile. Ngalo njengoko kweenwele namashiya.
• Isikhumba i pallor nemvelo.
• Baby ubuso ngempela.
• Bridge impumlo flat.
• lobushushu base-.
• Feed umntwana uba kuyingxaki. Ukuthanda kuyinto engekhoyo. Ukongeza, kukho kwahluka imikhuba kwesisu.
• Kid eyimpumelelo, wozela nelidangeleyo, ubuso bakhe ubonisa phantse akukho imvakalelo. Kukho zonke iimpawu zokuphelelwa ngumdla.
• Baby amaninzi ukuhlukumeza amahlaba.
• Child isalele kakhulu emva oontanga babo ayisendim kwanoko sele wakwazi ukufunda.

lokufunyaniswa syndrome

Kufuneka kuqatshelwe ukuba izifo ezininzi ezinqabileyo kunzima ukubona. Esinye isizathu sokuba le - ulwazi abahluphekayo oogqirha zabantwana. Kwimeko Menkes syndrome wabantwana bangazisa i uhlobo engaqhelekanga iinwele kid. mpawu utyhila izinto amahlaba, leyo ngamaxesha avele umntwana.

Uninzi mpawu zingasentla kwenzeka kwezinye izifo, kuyingozi kakhulu. Ngoko ke, ukuze nabo ukuphakuzela umntwana wakho ayikho imfuneko. Kodwa kuyimfuneko ukuhlola kuyo. Iindidi eziphambili kuxilongo Menkes syndrome luvavanyo igazi ngenxa amanqanaba ubukho kuyo lobhedu-X-reyi amathambo, nto leyo ukubonisa utshintsho zazo zithwala.

zokuthintela izifo

Ngelishwa, ukuvimbela syndrome iindlela Menkes amayeza iye alikafiki yasungulwa. Emngciphekweni - iintsana eyindoda abaye ezinale sifo. Ukumisela sifo kusekwangoko yophuhliso umbungu, yaye ngakumbi kuba nzima ukuthintela. Kakade ke, abanye abafazi ngokuzibuza le umbuzo ukuba kunokwenzeka ukucwangcisa ukukhulelwa kunye Menkes syndrome entsatsheni umyeni wakhe? Impendulo oku ukunika kuphela sezakhi elungileyo, ngubani na oya kuhlalutya nzulu ngalo, uya ukuxilonga, zoba i "ngumthi yemfuza" uze kuphela kubhengeza iqondo umngcipheko. Kuyacetyiswa ukuba athathe isigqibo malunga kwinzala locwangciso kuphela emva kokubonisana neengcali.

Unyango lwezifo iinwele olugobileyo

Ngelishwa, Menkes syndrome sisifo esinganyangekiyo. Limi ku kube nzima kakhulu. Esi sifo sanda ngokukhawuleza, ibangela utshintsho ayibuyiseki umva emzimbeni. Ukongezelela ukukhubazeka engqondweni, nto leyo phantse lonke ikhatshwe syndrome, abangaphangeliyo uphuhliso nervous system, umsebenzi intliziyo kakuhle, utshintsho amathambo.

Ubomi ne Menkes syndrome lifutshane. abantwana abaninzi bafe emva kweminyaka emibini ukuya kwemithathu emva kokuzalwa. Ngokufuthi kwenzeka ngesiquphe - kwisiqalo uzinzo jikelele - yinyumoniya, usuleleko okanye komsipha kwemithambo yegazi.

Nangona unyango amayeza loo akazi, kukho iindlela ukuququzelela imeko yesigulane. Le unikezelo ngumntu zezobhedu umzimba lulungiselelwayo yegazi. Olu nyango thile ophazamisa uphuhliso sifo yaye ngokuyinxenye ishenxisa iimpawu. Kodwa phantsi kuphela ekuqaleni kwangethuba kuyo - oko kukuthi, ukususela kwimihla zokuqala okanye iiveki ezininzi ebomini (de kube utshintsho vuhlayiseki engqondweni). Ntoleyo, yeha, phantse akunakwenzeka - enyanisweni picture kwangumqondiso kubonakala iinyanga nje ezintathu. Kwezinye iimeko, oogqirha ukunikela unyango kuphela inkxaso.

kunqabile kakhulu, kodwa kuyenzeka ukuba Menkes syndrome lwenzeka ngendlela ezolileyo. Olu hlobo lwesifo ibizwa Occipital uphondo syndrome kwaye luphawulwa ukutshatyalaliswa kwizicwili. Izigulane lo unesifo ukuba ningatyhafi iqola ingqondo, kodwa umphumo ukuphela akukabikho elibuhlungu. Isifo kuphela uqala ukuphuhlisa kakhulu kamva, malunga neshumi leminyaka ubudala.