Izifo eziyi-12 ezidluliselwa enganeni zivela kunina

Izifo eziyi-12 ezidluliselwa enganeni zivela kunina

Ukuthi ingane izalwa inamandla futhi inempilo kangakanani incike enhlalakahleni kamama okhulelwe. Kepha noma ngabe konke kuhamba kahle ngomzimba, kubalulekile ukwazi ukuthi yiziphi izifo ezivame ukudluliselwa enganeni zisuka kuye.

Akunakwenzeka ukuzivikela kuyo yonke into esemhlabeni. Kepha ungayidlala iphephile. Uma uwazi amaphuzu akho obuhlungu, qapha inhlalakahle yakho futhi uhlolwe njalo, izingane ezinempilo zizovela nakanjani. Yebo, noma okungenani uyazi ukuthi ngabe ungumthwali wezifo okungenzeka ukuthi zidluliselwe enganeni yakho. Lokhu kungenziwa ngokuhlolwa kofuzo.

udokotela-u-geneticist wenethiwekhi yezikhungo zokukhiqiza kanye ne-genetics "iNova Clinic"

“Ngeshwa, ngihlala ngithola umbono wokuthi uma kungekho muntu obenezifo zofuzo emndenini, ngabe azizithinti izingane zabo. Lokhu akulungile. Umuntu ngamunye uphatha ukuguquka kwezinguquko okungu-4-5. Asiyizwa nganoma iyiphi indlela, ayithinti impilo yethu. Kepha uma kwenzeka umuntu ehlangana nomphefumulo womlingani wakhe ngokuguquka okufanayo kulesakhi sofuzo, ingane ingagula kumaphesenti angama-25 amacala. Lolu uhlobo olubizwa nge-autosomal recessive lwefa. "

Isifo "esimnandi" singazuzwa njengefa (uma umama enesifo esihlonziwe), futhi ingane kungenzeka ingasizuzi njengesi sifo lesi sifo, kepha ikwazi ukuthinteka kalula kuso. Ososayensi bakholelwa ukuthi amathuba okudlulisa isifo sikashukela (uhlobo 5) kusuka kumama kuye enganeni ngefa cishe amaphesenti angu-XNUMX.

Kepha uma umama okhulelwe etholakala enohlobo lwesifo sikashukela sohlobo 70, khona-ke ingozi yokuthi ingane izoyizuza iyakhuphukela kumaphesenti angama-80-100. Uma bobabili abazali benesifo sikashukela, khona-ke amathuba okuthi ingane izothola ukuxilongwa okufanayo afinyelela kumaphesenti angu-XNUMX.

Lesi ngesinye isifo esivame ukuzuzwa njengefa. Uma umama ebenezinkinga zamazinyo, khona-ke ingane inamathuba angama-caries angama-45 kuye kwangama-80. Le ngozi incishisiwe uma ugcina ukuhlanzeka kwamazinyo okuphelele kusuka emazinyweni okuqala enganeni yakho futhi njalo kuhlolwe udokotela wamazinyo. Kepha nalokhu akuqinisekisi ukuthi ingane ngeke ikhule i-caries.

Iqiniso ukuthi ingane ifa isakhiwo samazinyo kunina. Uma kukhona ama-groove amaningi, ukudangala kuwo, ukudla kuzonqwabelana lapho, okuzoholela ekwakhiweni kocwecwe olubi. Ezinye izinto ezibalulekile zofuzo zifaka phakathi ukuthi uqweqwe lwawo luqine kangakanani, yini ukwakheka kwamathe, ukuzivikela komzimba kanye nesimo somzimba sokuzivikela kumama. Kepha lokhu akusho nakancane ukuthi udinga ukuphakamisa isandla sakho futhi ungagadi umgodi womlomo wengane. Noma kunjalo, inhlanzeko enhle ukuvikela okuhle kakhulu kwanoma yisiphi isifo samazinyo.

Ubumpumputhe bemibala, noma ubumpumputhe bombala, nakho kubhekwa njengesifo esizalwa nefa. Uma umama enalesi sifo, ubungozi bokudlulisa ukungaboni ngamehlo kufinyelela kumaphesenti angama-40. Ngaphezu kwalokho, abafana bathola lesi sifo kunina kaningi kakhulu kunamantombazane. Ngokwesayensi, abesilisa banamathuba aphindwe ngama-20 okuhlupheka ngenxa yokungaboni kahle kunabesifazane. Ubumpumputhe bemibala budluliselwa emantombazaneni kuphela uma bobabili umama nobaba behlushwa yilesi sifo.

Sibizwa nangokuthi isifo "sasebukhosini", ngoba phambilini bekukholelwa ukuthi lesi sifo sithinta kuphela abanelungelo elikhulu kunabo bonke. Mhlawumbe owesifazane odume kakhulu emlandweni ukuthwala lesi sifo yiNdlovukazi uVictoria. Isakhi sofuzo, ngenxa yalokho ukungasebenzi kwegazi okungakhubazekile, sathola umzukulu we-Empress u-Alexandra Feodorovna, unkosikazi kaNicholas II. Futhi ngokubi, indlalifa kuphela yamaRomanov, u-Tsarevich Alexei, wazalwa enalesi sifo…

Kufakazelwe ukuthi abesilisa kuphela abahlushwa i-hemophilia, abesifazane bangabathwali balesi sifo futhi basidlulisela enganeni yabo ngesikhathi sokukhulelwa. Kodwa-ke, ososayensi baphikisana nokuthi i-hemophilia ingathathelwa kuphela ngenxa yefa elibi (lapho umama enesifo), kepha futhi nangenxa yokuguqulwa kwezakhi zofuzo, okudluliselwe enganeni engakazalwa.

Lesi yisimo sesikhumba esingakwazi ukudideka nganoma yisiphi esinye: amabala abomvu ama-scaly emzimbeni wonke. Ngeshwa, kubhekwa njengefa. Ngokusho kochwepheshe bezokwelapha, i-psoriasis izuzwe ngamaphesenti angu-50-70 wamacala. Noma kunjalo, lokhu kuxilongwa okudumazayo kunganikezwa izingane ezinabazali nezihlobo eziseduze ezingazange zihlaselwe yi-psoriasis.

Lezi zifo zifana nelotto. Kutholakale ukuthi kokubili i-myopia kanye nokubona kusengaphambili kuzuzwe njengefa, kepha kungavela ukuthi umama okhulelwe "uyindoda ebonwayo" enolwazi, futhi ingane ezalwayo izolungisa konke ngokubona kwayo. Kungaba ngenye indlela ezungezile: abazali abakaze bakhalaze kudokotela wezifo zamehlo, nengane eyazalwa ngokushesha yakhombisa izinkinga zamehlo, noma umbono wayo waqala ukuhlala phansi ngenqubo yokukhula. Esimweni sokuqala, lapho ingane ingenazo izinkinga zokubona, ngokunokwenzeka, iyoba yisithwali sofuzo "olubi" bese idlulisela i-myopia noma i-hyperopia esizukulwaneni esilandelayo.

Izazi zokudla okunomsoco ziqinisekile ukuthi hhayi ukukhuluphala ngokweqile kuzuzwe njengefa, kepha ukuthambekela kokukhuluphala ngokweqile. Kodwa izibalo aziyeki. Kumama okhuluphele, izingane zizokhuluphala ngokweqile kumaphesenti angama-50 ezimweni (ikakhulukazi amantombazane). Uma bobabili abazali bekhuluphele, ingozi yokuthi izingane nazo zizokhulupha cishe ingamaphesenti angama-80. Ngaphandle kwalokhu, izazi zokudla okunomsoco ziyaqiniseka ukuthi uma umndeni onjalo uqapha ukudla kwezingane nomsebenzi womzimba, izingane-ke cishe ngeke zibe nezinkinga zesisindo.

Ingane engezwani nezinto ezithile nayo ingazalwa ngowesifazane onempilo, kepha nokho izingozi zinkulu kakhulu uma umama okhulelwe etholakala ukuthi unalesi sifo. Kulesi simo, amathuba okuba nengane egulayo okungenani amaphesenti angama-40. Uma bobabili abazali benenkinga yokungezwani komzimba, lesi sifo singazuzwa ngamaphesenti angu-80 wamacala. Kulokhu, akudingekile, uma umama, ngokwesibonelo, ayengazwani nempova, khona-ke ingane izosabela ngendlela efanayo. Ingane ingahle iguliswe yizithelo ezisawolintshi noma okunye ukungabekezelelani.

Lokhu kutholakala kabuhlungu kunikezwa namuhla kubantu ababonakala benempilo. Uma esinye sezihlobo eziqondile sitholakale sinomdlavuza, bobabili abazali okufanele babekhona kufanele baqaphele. Umdlavuza ovame kakhulu phakathi kwabesifazane umdlavuza webele nomdlavuza wesibeletho. Uma betholwe kowesifazane, khona-ke ingozi yokuthi lolu hlobo lomdlavuza luzozibonakalisa emadodakazini akhe, abazukulu, ngokuphindwe kabili.

Uhlobo lwesilisa lomdlavuza - umdlavuza wendlala yabesilisa - aluzuzwa njengefa, kepha ukuthambekela kwalesi sifo ezihlotsheni eziqondile zamadoda kusalokhu kuphezulu.

Izazi zenhliziyo zithi isifo senhliziyo, ikakhulukazi isifo sokuqina kwemithambo yegazi nomfutho wegazi ophakeme, singabizwa ngokuthi esomndeni. I-pathologies yesistimu yenhliziyo izuzwe njengefa, futhi hhayi esizukulwaneni esisodwa kuphela, kunamacala avela ekusebenzeni lapho izifo zibonakala esizukulwaneni sesine. Izifo zingazenza zizizwe ngeminyaka ehlukene, ngakho-ke abantu abanefa elibi kakhulu kudingeka bahlolwe njalo ngudokotela wenhliziyo.

Konje

Kuyadingeka ukuhlukanisa phakathi kwezifo zofuzo nezofuzo. Isibonelo, i-Down's syndrome - akekho ogonyiwe kuyo nhlobo. Izingane ezine-Down syndrome zizalwa lapho iqanda leqanda liletha i-chromosome eyengeziwe ngesikhathi sokuhlukaniswa. Kungani lokhu kwenzeka, ososayensi abakaqondi ngokugcwele. Kodwa kunento eyodwa ecacile: uma umama emdala, kukhula amathuba okuba nomntwana one-Down syndrome. Ngemuva kweminyaka engama-35, amathuba okuthi ingane ithole i-chromosome eyengeziwe yanda kakhulu.

Kodwa ukugula okunje nge-spinal muscular atrophy kwenzeka uma bobabili umama nobaba bephethe isakhi sofuzo "esinesici". Uma bobabili abazali beguquka kwisakhi esifanayo, kunethuba elingamaphesenti angama-25 lokuba nengane ene-SMA. Ngakho-ke, ngaphambi kokukhulelwa, kungakuhle ukuthi kuhlolwe isazi sezakhi zofuzo kubo bobabili abazali.

U-Alfiya Tabermakova, uNatalia Evgenieva

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