Ingaba umntwana wakho uyahlanza xa umtyisa ubisi? Ngaba kungenxa yeGalactosemia?

Lusuku olumnandi kakhulu xa usana olusandul’ ukuzalwa lubuya ekhaya. Eyona nto ivuyisayo kumama kukuncancisa umntwana wakhe. Kuba siyazi ukuba ubisi lwebele lolona kutya lulungileyo kumntwana. Lunika zonke izondlo ezidingwa ngumntwana, kunye nezinto ezininzi ezifana nee-antibodies ezimkhusela kwizifo. Kodwa khawucinge nje, emva kokuba uncancise umntwana wakho, kwiintsuku ezimbalwa umntwana akakwazi ukusela ubisi, aqhubeke ehlanza, ajike abe tyheli, aze afe. ​​Xa ebona into efana nale, nawuphi na umama okanye utata uyoyika kakhulu. Ngamanye amaxesha unobangela wesi sifo singaqhelekanga abantu abaninzi abangazange basive. Namhlanje sithetha ngesinye sezifo ezinjalo, iGalactosemia.

Ngamafutshane, yintoni iGalactosemia?

Ngamafutshane, iGalactosemia yimeko engaqhelekanga, ezalwa nayo enxulumene neenkqubo zomzimba wethu zokuyila. Iintsana ezinale meko azikwazi ukuguqula igalactose, uhlobo lweswekile olufumaneka kubisi eziluselayo, ibe ngamandla, oko kuthetha ukuba azikwazi ukuyigaya.

Ngoku usenokuba uzibuza ukuba yintoni le galactose. Ubisi esiluselayo, oko kukuthi, ubisi lwebele kunye nobisi oluyimpuphu, luqulethe uhlobo lweswekile olubizwa ngokuba yi-lactose. Le molekyuli ebizwa ngokuba yi-lactose yenziwe ngezinye iiswekile ezimbini ezilula ezibizwa ngokuba yi-glucose kunye ne-galactose. Ii-enzymes emzimbeni womntwana osempilweni ziyayiqhekeza le lactose kwaye ziguqule inxalenye ye-galactose ibe ngamandla.

Nangona kunjalo, kumntwana oneGalactosemia, i-enzyme eguqula i-galactose ibe ngamandla ayisebenzi kakuhle, okanye ayiveliswa kwaphela . Ifana nomatshini okwifektri eqhekekayo. Emva koko, i-galactose engatyiwayo iqokelelana egazini lomntwana. I-galactose eqokelelana ngale ndlela iyingozi kakhulu kumntwana osandul’ ukuzalwa. Ukuba ayinyangwa, inokuba yingozi kumntwana.

Yintoni ebangela esi sifo?

I-Galactosemia sisifo esizuzwa njengelifa . Oku kuthetha ukuba sidluliselwa kumntwana ngee-genes. Ukuze umntwana abe nesi sifo, umntwana kufuneka afumane i-gene enesiphene kumama nakutata.

Ukuba ngumzali omnye kuphela ophethe i-gene enesiphene, babizwa ngokuba yi-carrier. Ii-carriers azibonakalisi zimpawu. Nangona kunjalo, xa kudibana ii-carriers ezimbini, kukho ithuba lokuba umntwana wabo abe nesi sifo.

Kukho iintlobo ezintathu eziphambili ze-galactosemia.

Ngaba nomntwana wakho unazo ezi mpawu?

Usana oluneClassic Galactosemia (Uhlobo I) lubonakala luphilile ngokupheleleyo ekuzalweni. Iimpawu ziqala ukubonakala emva kweentsuku ezimbalwa umntwana eqale ukusela ubisi lwebele okanye ifomyula ene-lactose.

Iimpawu zibonakala kwizigaba zokuqala

• Ukungafuni ukusela ubisi kwaye ungaluceli.
• Ukuhlanza rhoqo emva kokusela ubisi okanye kungekudala emva koko.
• Ukutyheli kolusu kunye namhlophe emehlweni (i-Jaundice) .
• Urhudo .
• Ukungaphumeleli ukukhula kakuhle kunye nokukhula kakubi komntwana.
• Usana luhlala lulele kwaye lungenabomi.

Iziphumo zexesha elide ukuba azinyangwa

Ukuba esi sifo asifunyanwanga kwaye asinyangwa kwangethuba, i-galactose eqokelelana egazini iya kuqala ukonakalisa amalungu ahlukeneyo emzimbeni womntwana.

• IiCataracts .
• Ukwenzeka rhoqo kwezifo ezinzima.
• Ukonakala kwesibindi kunye nokwanda kwesibindi.
• Ukonakala kwezintso .
• Ukonakala kophuhliso lobuchopho , okubangela ukukhubazeka kophuhliso okufana nokukhubazeka kokufunda.
• Abanye abantwana banokuba neengxaki ngezakhono zokunyakaza komzimba ezifana nokuhamba nokusebenzisa izandla zabo.
• Kwimeko yomntwana oyintombazana, ukungasebenzi kakuhle kwesibeleko emva kokufikisa. Ngenxa yoko, badla ngokulahlekelwa ngamandla okufumana abantwana.

Ifunyaniswa njani kwaye inyangwa njani le nto?

Ngethamsanqa, kukho iimvavanyo ezinokubona esi sifo. Kwamanye amazwe, usana ngalunye olusandul’ ukuzalwa luvavanywa izifo ezininzi ezingaqhelekanga esibhedlele. Oku kwenziwa kusetyenziswa isampuli yegazi elincinci elithathwe kwisithende somntwana (uvavanyo lwesithende).

Ukuba umntwana wakho uneempawu ezikhankanyiweyo apha ngasentla, ugqirha wakho uya kukrokrela oko aze acele uvavanyo olukhethekileyo lwegazi nomchamo ukuqinisekisa oko.

Luluphi unyango ukuba isifo siqinisekisiwe?

Unyango oluphambili lwe-galactosemia kukususa ngokupheleleyo i-lactose kunye ne-galactose ekutyeni komntwana.

• Oko kuthetha ukuba awunakunika umntwana wakho ubisi lwebele . Kwaye awunakunika ubisi oluqhelekileyo .
• Kunoko, kufuneka kunikwe iifomyula ezikhethekileyo ezisekelwe kwisoya ezicetyiswa ngugqirha.
• Xa umntwana ekhula kancinci, izinto ezifana nobisi kunye neemveliso zobisi (iyogathi, itshizi, ibhotolo) azinakongezwa ekutyeni.
• Ekubeni ezinye iziqhamo, imifuno, kunye neelekese zinokuba ne-galactose encinci, kufuneka uthethe nogqirha wakho kunye nengcali yokutya ukuze ufumane ukuba zeziphi ukutya ezikhuselekileyo.
• Ekubeni ubisi lususiwe ngokupheleleyo ekutyeni, ugqirha ucebisa ukuba umntwana anikwe i-calcium efunekayo, i-vitamin D, kunye ne-vitamin K ngendlela yesondlo.

I-Duarte Galactosemia (DG) kunye nezinye iintlobo

I-Duarte Galactosemia (DG) yimeko ethambileyo nenganzima kangako kune-Classic Galactosemia. Iintsana ezinale meko zinobunzima bokugaya i-galactose, kodwa zisenokungadingi ukutya okungqongqo. Ezinye iintsana zinokuqhubeka nokuncancisa. Nangona kunjalo, esi sigqibo kufuneka senziwe ngugqirha wakho kuphela.

Iintsana eziluhlobo lwesibini nolwesithathu nazo zineengxaki ezimbalwa kunezo ziluhlobo lweklasikhi. Nangona kunjalo, kusekho umngcipheko wokukhula kwezinto ezifana ne-cataracts, iingxaki zezintso nesibindi.