Uvavanyo lwePezinho: yintoni, xa lwenziwe kwaye lufunyenwe ziziphi izifo

Umxholo

• Kwenziwa njani kwaye kwenziwa nini isithende
• Izifo ezichongiweyo kuvavanyo lwesithende
• 1. IPhenylketonuria
• 2. I-hypothyroidism yokuzalwa
• 3. Sickle cell anemia
• 4. I-hyperplasia yokuzalwa ye-adrenal
• 5. ICystic fibrosis
• 6. Ukusilela kweBiotinidase
• Uvavanyo lweenyawo olwandisiweyo

Uvavanyo lwesithende, olwaziwa ngokuba luvavanyo lweentsana, luvavanyo olunyanzelekileyo olwenziwa kuzo zonke iintsana, ngesiqhelo emva kosuku lwesithathu lobomi, kwaye lunceda ukufumanisa isifo semfuza kunye nezifo zemetabolism, kwaye ke, ukuba ngaba lukhona utshintsho ichongiwe, unyango lunokuqalwa kwangoko emva koko, kuthintelwe iingxaki kunye nokukhuthaza umgangatho wobomi bomntwana.

Isithende sokubetha sikhuthaza ukuxilongwa kwezifo ezininzi, kodwa ezona ziphambili kukuzalwa kwe-hypothyroidism, i-phenylketonuria, i-sickle cell anemia kunye ne-cystic fibrosis, kuba zinokuzisa iingxaki kusana kunyaka wokuqala wobomi ukuba aluchongwanga kwaye alunyangwa.

Kwenziwa njani kwaye kwenziwa nini isithende

Uvavanyo lwesithende lwenziwa ngokuqokelela amathontsi egazi kwisithende somntwana, abekwe kwiphepha lokucoca aze athunyelwe elebhu ukuba ihlalutywe kunye nobukho beenguqu.

Olu vavanyo lwenziwa kwisibhedlele sokubeleka uqobo okanye kwisibhedlele apho umntwana wazalelwa khona, kuboniswa ukusukela kusuku lwesithathu lokuzalwa komntwana, nangona kunjalo lunokwenziwa kude kube yinyanga yokuqala yobomi bosana.

Kwimeko yeziphumo ezincumisayo, kuyaqhagamshelwana nosapho lomntwana ukuze kwenziwe uvavanyo olutsha, oluthe ngqo ngakumbi kwaye, ngenxa yoko, isifo sinokuqinisekiswa kwaye kuqalwe unyango olufanelekileyo.

Izifo ezichongiweyo kuvavanyo lwesithende

Uvavanyo lwesithende lubalulekile ukufumanisa izifo ezininzi, eziphambili zezi:

1. IPhenylketonuria

I-Phenylketonuria lutshintsho olunqabileyo lwemfuzo olubonakaliswa kukuqokelelwa kwe phenylalanine egazini, kuba i-enzyme ejongene nokuthotywa kwe-phenylalanine inomsebenzi wayo otshintshiweyo. Ke, ukuqokelelwa kwe phenylalanine, enokufunyanwa ngokwendalo kumaqanda nasenyameni, umzekelo, kunokuba yityhefu emntwaneni, enokuthi ithintele ukukhula kwe-neuronal. Bona ngakumbi malunga ne-phenylketonuria.

Unyango lwenziwa njani: Unyango lwe-phenylketonuria luqulathe ulawulo kunye nokuncitshiswa kwesixa se-enzyme egazini, kwaye, ngenxa yoku, kubalulekile ukuba umntwana akuphephe ukutya ukutya okunothe kwi-phenylalanine, njengenyama, amaqanda kunye neembewu zeoyile. Njengoko ukutya kunokuba kuthintele kakhulu, kubalulekile ukuba umntwana akhatshwe yingcali yesondlo ukukhusela ukusilela kwesondlo.

2. I-hypothyroidism yokuzalwa

I-hypothyroidism ye-Congenital yimeko apho i-thyroid yengane ingakwazi ukuvelisa ama-hormone aqhelekileyo kwaye anele, anokuphazamisa ukukhula komntwana, kunye nokubangela ukukhubazeka kwengqondo, umzekelo. Yazi indlela yokuchonga iimpawu zokuzalwa kwe-hypothyroidism.

Unyango lwenziwa njani: Unyango lwe-hypothyroidism ye-congenital iqala kwakamsinya nje emva kokuba kufunyaniswe isifo kwaye kubandakanya nokusetyenziswa kwamachiza ukubuyisela iihomoni ze-thyroid ezikwizixa eziguqulweyo, ukuze kube nakho ukuqinisekisa ukukhula nokukhula komntwana okusempilweni.

3. Sickle cell anemia

I-Sickle cell anemia yingxaki yemfuza ebonakaliswa kukutshintsha kobume beeseli ezibomvu zegazi, ukunciphisa amandla okuhambisa ioksijini kwiindawo ezahlukeneyo zomzimba, ezinokubangela ukulibaziseka kuphuhliso lwamanye amalungu.

Unyango lwenziwa njani: Kuxhomekeka kubukhali besifo, umntwana kungafuneka atofelwe igazi ukuze ukuhambisa ioksijini kumalungu kwenzeke ngokufanelekileyo. Nangona kunjalo, unyango luyimfuneko kuphela xa usulelo olufana ne-pneumonia okanye i-tonsillitis luvela.

4. I-hyperplasia yokuzalwa ye-adrenal

I-congenital adrenal hyperplasia sisifo esibangela ukuba umntwana abe nokusilela kwehomoni kwezinye iihormoni kunye nokubaxa kwimveliso yezinye, ezinokubangela ukwanda, ukufikisa kwangaphambili okanye ezinye iingxaki zomzimba.

Unyango lwenziwa njani: Kwiimeko ezinjalo, kubalulekile ukuba iihomoni eziguqulweyo zichongiwe ukuze kwenziwe ukutshintshwa kwehomoni, kwaye kwiimeko ezininzi kuye kufuneke kwenziwe ubomi bonke.

5. ICystic fibrosis

ICystic fibrosis yingxaki apho kuveliswa khona incindi enkulu, iphazamisa inkqubo yokuphefumla kwaye ichaphazela nepancreas, ke kubalulekile ukuba isifo sichongwe kuvavanyo lwenyawo ukuze unyango luqalise kwaye luqalise. zithintelwe. Funda indlela yokuchonga icystic fibrosis.

Unyango lwenziwa njani: Unyango lwe-cystic fibrosis lubandakanya ukusetyenziswa kweziyobisi ezichasayo, ukutya okwaneleyo kunye nonyango lokuphefumla ukuthomalalisa iimpawu zesi sifo, ngakumbi ubunzima bokuphefumla.

6. Ukusilela kweBiotinidase

Ukunqongophala kweBiotinidase yingxaki yokuzalwa ebangela ukungakwazi komzimba ukuphinda usebenzise i-biotin, eyona vithamini ibaluleke kakhulu ekuqinisekiseni impilo yenkqubo yemithambo-luvo. Ke, iintsana ezinale ngxaki zinokuxhuzula, ukungabikho kolungelelwaniso lweemoto, ukulibaziseka kophuhliso kunye nokulahleka kweenwele.

Unyango lwenziwa njani: Kwiimeko ezinjalo, ugqirha ubonakalisa ukuba uthatha ivithamin biotin ebomini ukubuyekeza ukungakwazi komzimba ukusebenzisa le vithamini.

Uvavanyo lweenyawo olwandisiweyo

Uvavanyo olwandisiweyo lwesithende lwenziwa ngeenjongo zokuchonga ezinye izifo ezingafane zixhaphake, kodwa ezinokwenzeka ikakhulu ukuba owasetyhini unalo naluphi na utshintsho okanye usulelo ngexesha lokukhulelwa. Ke, uvavanyo olwandisiweyo lwesithende lunokunceda ekuchongeni:

• IGalactosemia: isifo esenza ukuba umntwana angakwazi ukwetyisa iswekile ekhoyo elubisini, enokubangela ukuphazamiseka kwenkqubo ye-nervous system;
• I-toxoplasmosis yokuzalwaIzifo ezinokubulala okanye zikhokelele kubumfama, i-jaundice enesikhumba esimthubi, ukuxhuzula okanye ukudodobala kwengqondo;
• Ukusilela kweGlucose-6-phosphate dehydrogenase: Kuququzelela ukubonakala kwe-anemias, ezinokwahluka ngokobunzima;
• Igcushuwa: isifo esibi esinokukhokelela ekubandakanyekeni kwenkqubo ye-nervous system;
• UGawulayo: isifo esikhokelela kukhubazeko olunamandla lwamajoni omzimba, ekungasenalo unyango;
• I-rubella yokuzalwa: kubangela ukukhubazeka kokuzalwa okufana nekati, ukungaboni, ukukhubazeka kwengqondo kunye nokukhubazeka kwentliziyo;
• I-herpes yokuzalwaizifo ezinqabileyo ezinokubangela izilonda zalapha esikhumbeni, inwebu yangaphakathi kunye namehlo, okanye zisasazwe, zichaphazele kakhulu inkqubo ye-nervous system;
• Isifo se-cytomegalovirus esizalwe naso: inokuvelisa ukubalwa kwengqondo kunye nokudodobala kwengqondo kunye neemoto;
• Isifo sokuzalwa esibuhlungu: sisifo esosulelayo esinokubangela ukudodobala kwengqondo, ukuphazamiseka kwengqondo kunye notshintsho lwamehlo.

Ukuba isithende sithe safumanisa nasiphi na kwezi zifo, ilabhoratri inxibelelana nosapho losana ngomnxeba kwaye umntwana kufuneka enze olunye uvavanyo ukuqinisekisa isifo okanye ukuthunyelwa kugqirha okhethekileyo. Yazi ezinye iimvavanyo ekufuneka zenziwe ngumntwana emva kokuzalwa.