Ingaba umntwana wakho omncinci akatyebi njengoko kulindelekile? Okanye uhlala ediniwe kwaye elele? Ngamanye amaxesha, emva kwezi zinto, kunokubakho imeko yezonyango esingayivayo kangako, kodwa inokuba yinto ebaluleke kakhulu. Namhlanje sithetha ngemeko enjalo. Leyo yimpazamo yokuzalwa yemetabolism, okanye ngokwezonyango, imeko ebizwa ngokuba yiInborn Errors of Metabolism (IEM) . Musa ukoyika, nokuba igama liyinkimbinkimbi kancinci, masithethe ngalo ngokulula.
Iyintoni le 'nkqubo ye-metabolic'?
Ngamafutshane, imizimba yethu ifana nenjini yemoto. Ukutya esikutyayo nesikuselayo yipetroli enika amandla le injini. I-metabolism yinkqubo yonke yokuthatha le petroli size siyiguqule ibe ngamandla, senze izinto ezifunekayo emzimbeni ukuze sikhule, kwaye silahle imveliso engcolileyo. Xa oku kusebenza kakuhle, imizimba yethu iphilile.
Ngoko ke, impazamo yokuzalwa yemetabolism (IEM) yimpazamo encinci, ezalwa nayo kwenye indawo kule njini, le nkqubo yemetabolism. Oku kubangela ukuba umzimba ungakwazi ukuguqula ngokufanelekileyo ukutya okuthile kube ngamandla, okanye ungakwazi ukususa iityhefu eziyingozi emzimbeni, eziqokelelana emzimbeni.
Ziziphi iintlobo eziphambili zomgangatho we-IEM?
Kukho amakhulu eemeko ezinjalo. Nganye yahlukile. Kodwa masiqaphele ezimbalwa zezona zixhaphakileyo. Ezi zihlala zibizwa ngegama le-enzyme engasebenzi kakuhle.
| Uhlobo lwemeko yezonyango | Kwenzeka ntoni nje? |
|---|---|
| Iingxaki zokugcina i-Lysosomal | Inkunkuma yomzimba ayinakuqhekeka ize isuswe ngokufanelekileyo. Oku kubangela ukuba iityhefu ziqokelele emzimbeni. Imizekelo: I-Hurler syndrome, isifo seGaucher. |
| Isifo somchamo wesiraphu yeMaple | Ii-amino acids ziyaqokelelana emzimbeni kwaye zonakalisa inkqubo yemithambo-luvo. Umchamo womntwana unuka njenge-maple syrup. |
| Isifo sokugcina iGlycogen | Umzimba awukwazi ukugcina iswekile (iglucose) efumaneka ekutyeni, nto leyo ebangela ukuba amanqanaba eswekile egazini abe phantsi. |
| Izifo zeMitochondrial | Iiseli zomzimba azikwazi ukuvelisa amandla aneleyo ekutyeni. Oku kuchaphazela amalungu amaninzi, njengengqondo, izihlunu kunye nesibindi. |
| Iingxaki zemetabolism yesinyithi | Iimetali ezifunekayo emzimbeni, ezifana nekopolo okanye isinyithi, ziqokelelana emzimbeni ziye kumanqanaba anobuthi. Imizekelo: Isifo sikaWilson, i-hemochromatosis. |
| Ingxaki yomjikelo we-Urea | I-ammonia enobungozi eveliswa emzimbeni ayinakususwa kwaye iqokelelana egazini. |
Kutheni oku kusenzeka? Ngubani oku kwenzeka kuye?
Le yeyona nto ibalulekileyo. Ezi meko zibangelwa kukuguquka kwezakhi zofuzo . Oko kukuthi, akubangelwanga yimpazamo evela kumama okanye kutata. Kubangelwa lutshintsho oluncinci kakhulu olwenzeka ngexesha lokwahlukana kweeseli xa umntwana ekhulelwa.
Iijini ezisemzimbeni wethu zisiyalela ukuba senze iiproteni ezibizwa ngokuba zii-enzymes ezifunekayo kwiinkqubo ze-metabolic. Cinga ngezi enzymes njengabasebenzi emizimbeni yethu. Kwimeko ye-IEM, okwenzekayo kukuba ngenxa yeso siphene semfuza, aba basebenzi abafumani miyalelo yokusebenza ngokufanelekileyo.
Le meko inokwenzeka nakubani na, kodwa ukuba kukho umntu kusapho lwakhe okhe waba nale meko ngaphambili, kukho umngcipheko othile wokuba nomntwana uza kuba nayo.
Zithini iimpawu zale meko?
Iimpawu zinokwahluka kakhulu kumntu nomntu kwaye kuxhomekeke kuhlobo lwesifo. Ngamanye amaxesha iimpawu zinokuba zingabonakali kangako, ngelixa ngamanye amaxesha zinokuba nzima. Nazi ezinye zezona mpawu zixhaphakileyo.
- Ukungaphumeleli ekukhuleni: Ukungaphumeleli ukutyeba okanye ubude.
- Umnqweno wokutya:Ukungafuni komntwana ukutya okanye ukusela ubisi.
- Ukudinwa rhoqo kunye nokulala: Umntwana uhlala ediniwe kwaye engasebenzi.
- Ukuhla ukusinda.
- Ukuba nesithuthwane (ukuxhuzula).
- Ivumba elingaqhelekanga elivela kumchamo, ukubila, okanye umphefumlo: Umzekelo, ezinye izifo zinokuba nevumba elimnandi, ngelixa ezinye zinokuba nevumba elahlukileyo ngokupheleleyo.
- Intlungu yesisu kunye nokuhlanza.
Ayinguye wonke umntwana onezi mpawu one-IEM, kodwa ukuba enye okanye ezingaphezulu kwezi mpawu ziyaqhubeka, kubalulekile ukubona ugqirha ngoko nangoko.
Ungayibona njani le meko?
Ngethamsanqa, namhlanje, uninzi lwezi zifo lunokubonwa kungekudala emva kokuzalwa. Kwamanye amazwe, ezi zifo zifunyanwa ngokuhlolwa kosana olusandul’ ukuzalwa. ESri Lanka, ezi zifo zenziwa nakwezinye izifo.
Iimvavanyo eziphambili ezisetyenziselwa ukufumanisa isifo zezi:
- Uvavanyo lwegazi nomchamo (Uvavanyo lwe-Metabolic): Olu vavanyo lunokufumanisa izinto ezingaqhelekanga zeekhemikhali eziqokelelene emzimbeni.
- Uvavanyo lwemfuza: Isampuli yegazi okanye isampuli yamathe inokunceda ekuqinisekiseni ukuba loluphi uhlobo lwemfuza olunesiphako.
- I-Amniocentesis: Ngexesha lokukhulelwa, isampuli encinci yolwelo lwe-amniotic olujikeleze umntwana ingathathwa ukuze kubonwe ukuba umntwana unale meko.
- Uvavanyo lwamehlo: Uvavanyo lwamehlo lunokwenziwa, njengoko ezinye iimeko ze-IEM zinokuchaphazela namehlo.
Iphathwa njani?
Iindlela zonyango ziyahluka ngokuxhomekeke kuhlobo lwesifo, kodwa injongo ephambili kukuthintela umzimba ekufunxeni izinto ongakwaziyo ukuzisingatha nokususa iityhefu eziqokelelene emzimbeni.
1. Ukutshintsha indlela otya ngayo: Olu lolona nyango luphambili. Kufuneka ususe ngokupheleleyo ukutya okungenakusetyenzwa ngumzimba (umz. iiproteni ezithile, amafutha) ekutyeni kwakho. Oku kufuna ingcebiso yengcali yesondlo kunye nogqirha.
2. Ukusela amayeza: Kunokunikwa amayeza okutshintsha iienzyme okanye amayeza anceda ekususeni iityhefu ukuze kuthathelwe indawo iienzymes ezingonelanga emzimbeni.
3. I-Dialysis: Kwezinye iimeko ezinzima, iityhefu eziqokelelene egazini zisenokufuneka zisuswe ngoncedo lomatshini.
4. Ukufakelwa amalungu omzimba: Kwiimeko ezinzima kakhulu, ukufakelwa isibindi kunokufuneka, umzekelo.
Kwiimeko ezinje, kubalulekile ukufumanisa isifo kwaye uqale unyango ngokukhawuleza. Oku kwandisa kakhulu amathuba omntwana okuphila ubomi obuqhelekileyo.
Ndifanele ndimbone nini ugqirha?
Ukuba ungumama okhulelweyo, thetha nogqirha wakho malunga novavanyo olunokwenziwa kumntwana wakho.
Ukuba umntwana wakho uneempawu ezichazwe apha ngasentla, ingakumbi ukuba kukho iingxaki zokukhula, qiniseka ukuba ubonana nogqirha wabantwana.
Okubaluleke kakhulu: Ukuba umntwana wakho unesithuthwane okanye udiniwe kakhulu, mse kwiYunithi yoNyango oluNgxamisekileyo (ETU) yesibhedlele esikufutshane ngoko nangoko.
Ukuphila nezi meko kunokuba nzima, ingakumbi xa kufikwa kwindlela yokutya. Kodwa ngeengcebiso zonyango ezifanelekileyo kunye nonyango, aba bantwana banokuphila ubomi obuqhelekileyo nobonwabisayo.
Umyalezo Wokuya Ekhaya
- Iimpazamo zokuzalwa zemetabolism (IEM) ziyimeko yemfuza. Ayibangelwanga yimpazamo yabazali.
- Kule meko, umzimba awukwazi ukuguqula ukutya kube ngamandla okanye ukususa iityhefu.
- Ukuba umntwana wakho akakhuli kakuhle, uhlala ediniwe, uphelelwa ngumdla wokutya, okanye unevumba elingaqhelekanga, funa ingcebiso kagqirha.
- Ukuxilongwa kwangoko kunye nonyango lobomi bonke (ingakumbi ulawulo lokutya) kunokunceda umntwana aphile ubomi obusempilweni.
- Soloko ulandela imiyalelo kagqirha wakho ngokuchanekileyo. Ukuba unamathandabuzo, buza kwakhona.
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