Menkes syndrome: incazelo kanye ukuxilongwa

Menkes syndrome, olubizwa nangokuthi isifo ezisontekile - ongavamile kanye sibi kakhulu isifo esidluliselwa ngofuzo. Kuthinta abafana, ngeshwa, asikwazi ngayo.

Izimbangela isifo

Menkes syndrome umphumela okungafanele ukusebenza ATR7A zofuzo. Njengoba ingabe yalokho komzimba anomaly ayikwazi ukudonsa yethusi, okuyinto zibekwe izinso, kanye nazo zonke ezinye izidumbu zinenkinga yokucindezeleka amanzi kakhulu, othola ukubhujiswa okusheshayo. Okokuqala, uhlushwa inhliziyo, ubuchopho, amathambo yegazi izinwele. Lesi sifo sitholwa njengefa futhi ivelakancane. Ingozi ekhona mayelana 1 million 50-100 futhi kwasakazwa ikakhulukazi amadoda. Ngo besifazane nezingane syndrome cishe ingekho.

Izimpawu yokuqala Menkes syndrome

Ingane ozalwa nalesi sifo, ubukeka ngayo nazizwa ngayo ngokuphelele evamile emavikini ekucala zokuphila. Kwakungenxa nje ngenyanga yesithathu izimpawu zibonakala, okubonisa ukuthi ingane eba Menkes syndrome:

• ezisontekile on the spot uwile phansi usana kancane. Ziyakwazi ezingavamile kakhulu futhi elikhanyayo. On sihlolisisa kusobala ukuthi izinwele ulula kakhulu futhi munye. Babukeka udidekile. Okwakuthandelene njengoba izinwele namashiya.
• Isikhumba kuyinto pallor nemvelo.
• Baby nazo ngempela kwakhahlela.
• Ibhuloho kwekhala uyisicaba.
• lokushisa Kwehliswe.
• Okuphakelayo ingane iba yinkinga. Iphango cishe nhlobo. Ngaphezu kwalokho, kunokwehluka wamathumbu imikhuba.
• Kid yokwenziwa, ukuwozela nevilaphayo, ubuso bakhe cishe angatshengisi imizwelo. Kukhona zonke izibonakaliso nokunganaki.
• Baby ngokuvamile wokuhlupha amajaqamba.
• Ingane kakhulu emuva kontanga futhi ngisakwazi ngisho nalokho kakade uye wakwazi ukufunda.

sitholakele lesi sifo

Kufanele kuqashelwe ukuthi abaningi isifo ezingavamile kunzima ukuxilonga. Esinye isizathu salokhu - ukuqaphela abampofu odokotela zezingane. Endabeni Menkes syndrome wezingane zingasiqaphelisa okungavamile kid izinwele. izimpawu Ukudalula kukhona amajaqamba, okuyinto ngezikhathi avele ingane.

Eziningi zalezi zimpawu ezingenhla zenzeka nakwezinye, izifo zingancipha esiyingozi kakhulu. Ngakho-ke, ukuze uwathole enetwetwe yengane yakho akudingekile. Kodwa kubalulekile ukuba ukuyihlola. Izinhlobo ezinkulu ukuhlola Menkes syndrome ukuhlolwa igazi sekusebentisa khona kuwo zethusi X-ray lamathambo, ezingasetshenziswa ukubonisa izinguquko alandisa.

ekuvimbeleni izifo

Ngeshwa, lesi sifo zokuvimbela izindlela Menkes imithi ongakabi yasungulwa. Engozini - izingane zesilisa abaye izihlobo nalesi sifo. Anqume isifo ngendlela efanele usaqala yentuthuko umbungu, bese kuvela ngaphezulu cishe akunakwenzeka ukuvimbela. Yiqiniso, abanye abesifazane ucela ngokwabo umbuzo wokuthi kungenzeka ukuhlela sokukhulelwa ne Menkes sifo ngo somndeni womyeni wakhe? Impendulo yalo kungaba kuphela ukunikeza zofuzo abalungile, abayothola ahlaziye ngokucophelela ngobuhle nangobubi bawo, ngeke ukuxilonga, ukudweba "isihlahla zofuzo" bese kuphela ukumemezela degree of ingozi. Kungcono ukuthatha isinqumo enzalweni ukuhlela kuphela emva kokubonisana ochwepheshe.

Ukwelashwa abacaphuni izinwele isifo

Ngeshwa, Menkes syndrome isifo esingalapheki. Isibikezelo at kunzima kakhulu. Isifo siqhubeka ngokushesha, okubangela izinguquko ezingenakuhlehliswa emzimbeni. Ngaphezu retardation engqondo, okuyinto cishe ngaso sonke isikhathi sihambisana a syndrome, kuvimbela ukuthuthukiswa isimiso sezinzwa, kahle inhliziyo umsebenzi, izinguquko amathambo aqatha.

Ukuphila ne Menkes syndrome sifushane. Izingane eziningi bafa sebedlulile eminyakeni emibili kuya kwemithathu emva kokuzalwa. Ngokuvamile kwenzeka ngokuphazima kweso - ku isizinda ukuzinza jikelele - pneumonia, izifo noma ukudabuka yegazi.

Nakuba ukwelashwa njengoba imithi enjalo akamazi, zikhona izindlela lula isimo lesiguli. Lena supply yokufakelwa zethusi umzimba, elawulwa ngemithambo yegazi. Lokhu ukwelashwa Kuthi ebambezela ukuthuthukiswa lesi sifo futhi ingxenye aqede izimpawu. Kodwa kuncike kuqale ngesikhathi esifanele wakhe kuphela - okungukuthi, ezinsukwini zokuqala noma amasonto kunazo zonke ekuphileni (uze izinguquko ezingenakuhlehliswa ebuchosheni). Yikuphi-ke ngeshwa, cishe akunakwenzeka - eqinisweni isithombe lingaze livela kuphela izinyanga ezintathu. Kwezinye izimo, odokotela banganikeza yokwelapha bangisekela kuphela.

Kakhulu akuvamile, kodwa kuyenzeka ukuthi Menkes syndrome kwenzeka ifomu omnene. Lolu hlobo sifo kuthiwa i-occipital uphondo syndrome futhi esibonakala ngokuqina ukubhujiswa ezicutshini. Iziguli nale Ihlahlubo kungukuthi emuva sokukhula kwengqondo, kodwa umphumela namanje esidabukisayo. Lesi sifo kuphela ucala kutfutfukisa kamuva kakhulu: ecishe ibe yishumi ubudala.