Cat ukuba ukukhala syndrome - ntoni na?

liqu du chat (okanye Lejeune syndrome) - sifo yemfuza kunqabile kakhulu kwaye unxulunyaniswa into yokuba akukho yinxalenye chromosome 5. Abantwana abaphethwe kwesi sifo, badla bakhale, nokukhala kwabo ngathi ukukhala ikati. Kwavela kulo igama - ikati ukuba ukukhala syndrome.

Esi sifo yenzeka omnye umntwana ngamnye nokuzala 50,000. Kuyenzeka kuzo zonke isizwe ivame besini ababhinqileyo.

Okokuqala wachaza esi sifo sezakhi French kunye udokotela Zherom Lezhen. Oku kwenzeka ngo-1963. Ngenxa yoko, igama yesibini sifo.

iimpawu

Cat nokukhala syndrome kwenzeka ngenxa yeengxaki ezithile kunye luvo kunye kwingqula. Ngenxa yezi ngxaki iza umntwana ikhala, efana kakhulu lowo zabavakalisa iikati. Phantse isinye kwisithathu abantwana ngale syndrome aphulukane phawu iimpawu (ukukhala) kwasekuqaleni nje kweminyaka emibini.

Iimpawu asenokubonisa ukuba umntwana liqu du ingxoxo:

- ubunzima kunye nokutya, ingakumbi ezanyisayo ligwinya;

- kancinane ubunzima usana kunye nophuhliso kade ngokomzimba;

- imisiwe nophuhliso imisebenzi yokuthetha, yokuqonda kunye nentshukumo;

- Iingxaki zokuziphatha: ndlongo, ukungahlaliseki kunye umntwana;

- iimpawu ezingaqhelekanga zobuso kungaphela ngokuhamba kwexesha;

- nokuqunjelwa;

- izinkcwe kakhulu.

Ukongeza, iimpawu ezithile zesi sifo ziquka: hypotonia, microcephaly, ukulibaziseka zophuhliso, imilo ngeenxa kobuso, netshiki iimbombo yamehlo, ibhulorho tyaba ngeempumlo, awela amehlo, iindlebe aphantsi kakhulu, iminwe elifutshane, njalo-njalo. Abantu kunye syndrome Lejeune amaxesha azinazo naziphi na iingxaki kunye nenkqubo zokuzala.

lokufunyaniswa kwesifo

uphethwe yenziwa ngokusekelwe inokuphumela iimpawu ekhala kunye nezinye iimpawu zidweliswe ngasentla. Ukongeza, iintsapho, apho sele kukho abantu abaphethwe kwesi sifo, banokwenza uvavanyo yemfuza, iingcebiso malunga nomba yintoni kuba syndrome yokukhulelwa.

Yintoni sifo?

Ngelishwa, le ALS ukuba umntu onesifo liqu du chat, kunokuba yedanisayo. Ngapha koko, iminyaka yabo yokuphila eziphantsi kakhulu kubantu abasempilweni. Ngaphezu koko, izigulane azikwazi ungafi nje onaso, kodwa iingxaki eziyelelene kuyo (kwezintso kunye nesifo sentliziyo, izifo ezosulelayo).

Lo mfanekiso kwezonyango yobomi yomguli kunye nexesha inakho kakhulu kuhluka. konke kuxhomekeke kwindlela uxhelekile enyama yangaphakathi, ingakumbi intliziyo.

A indima ebalulekileyo ukwanda leminyaka yokuphila na umgangatho wobomi ngemihla kunye nonyango. Kodwa ke, kubalulekile ukuqaphela ukuba uninzi izigulane kufa kwisithuba kwiminyaka yokuqala embalwa yobomi bakhe. 10 Kuphela% abantwana sife phambi kweminyaka eli-10. Kodwa kukho, kunjalo, iinkcazelo ngamnye lezigulane asinda ukuya kwiminyaka engama-50 okanye ngaphezulu. Ngoko ke kubaluleke kakhulu ukuba siphelelwe lithemba.

WoThintelo noNyango

Lidla iziphene intliziyo ifuna ukulungiswa ngotyando, ngoko ke umntwana abagulayo kufuneka kokubonisana utyando ezingabantwana ezesifuba uxilongo olulodwa, nto leyo eye igama cardiography echo. Ngenxa yoko, akukho unyango, kuphela kwangumqondiso, ngokuba le ngxaki kunye zofuzo asikwazi iyanyangeka yi naziphi na iindlela, ukuba imizila yemfuza.

Izigulane ukwenza Ukolulwa, imithambo, imithi ezivuselela uphuhliso engqondweni.

Ukuba ufuna ukuphepha imeko lokuzalwa komntwana, abaphethwe zizifo ezifana liqu du chat, yakho sibini kufuneka nakanjani baye zoviwo yemfuza kwaye ufumane iingcebiso zeengcali. Inye kuphela indlela Ungazikhusela ukuzalwa komntwana esinganyangekiyo. Kwaye oku liphupha zonke sibini, akunjalo?