Njengomzali, mhlawumbi ukhathazekile ngempilo yomntwana wakho omncinci. Ngamanye amaxesha kuyinto eqhelekileyo ukuziva usoyika kancinci xa ufunda ngeemeko ezingaqhelekanga esingazange sive ngazo. Kaloku, namhlanje sithetha ngemeko engaqhelekanga abantu abaninzi abangazange beve ngayo, kodwa kubalulekile ukwazi ngayo. Igama layo yiHomocystinuria.
Ngamafutshane, yintoni iHomocystinuria (HCY)?
Cinga nje, siyazi ukuba ukutya esikutyayo, ingakumbi inyama, intlanzi, ubisi, namaqanda, kuqulathe iiproteni . Le proteni inkulu yenziwe ngamaqhekeza amancinci abizwa ngokuba zii-amino acids . Njengeebhloko zokwakha. Ngaphakathi emzimbeni womntu ophilileyo, ezi amino acids ziyaqhekeka kwaye zigaywe, kwaye zibe ngamandla afunekayo emzimbeni wethu.
Nangona kunjalo, kumntu one-Homocystinuria (HCY), umzimba awukwazi ukuwohloka nokugaya i-amino acid ebizwa ngokuba yi-methionine . Oku kubizwa ngokuba yi-metabolic disorder. Xa oku kusenzeka, le methionine kunye nenye ikhemikhali ebizwa ngokuba yi-homocysteine, eyenziwe kuyo, ziqala ukuqokelelana emzimbeni, ingakumbi egazini. Oku kuqokelelana kuyingozi. Ukuba akunyangwa, oku kunokubangela iingxaki zempilo ezinzulu.
Kutheni oku kusenzeka? Yintoni isizathu sale nto?
I -enzyme ekhethekileyo emzimbeni wethu inceda kwinkqubo yokuqhekeza le amino acid ebizwa ngokuba yi-methionine. Cinga ngale enzyme njengesikere. Ezi zikere zisika into enkulu ebizwa ngokuba yi-methionine ibe ziingceba ezincinci.
Kumntu one-homocystinuria, le enzyme (isikere) ayiveliswa emzimbeni, okanye ukuba iveliswa, ayisebenzi kakuhle.
Into ebalulekileyo kukuba esi sisifo esizuzwe njengelifa . Oko kuthetha ukuba sidluliselwa kwizizukulwana ngezizukulwana. Kukho ii-genes ezimbini ezikufundisayo ukuba wenze le enzyme. Enye kufuneka izuzwe njengelifa kumama wakho kwaye enye izuzwe kutata wakho. Ukuze i-homocystinuria ikhule, kufuneka kubekho isiphene kuzo zombini ii-genes ezizuzwe njengelifa kumama wakho nakutata wakho.
Zeziphi iimpawu esinokuzibona?
Okumangalisayo kukuba, xa ujonga umntwana ozelwe eneHomocystinuria, akukho mahluko. Ziintsana eziqhelekileyo ngokupheleleyo. Iimpawu ziqala ukubonakala kwiminyaka embalwa yokuqala yobomi. Ayingabo bonke abantwana abafumana ezi mpawu ngendlela efanayo. Abanye abantwana banokuba nazo ezininzi zezi mpawu, ngelixa abanye besenokungazibonisi.
Nika ingqalelo kwiimpawu ezikwitheyibhile engezantsi.
| Udidi lweempawu | Iimpawu eziqhelekileyo |
|---|---|
| Inkangeleko yomzimba | Unesikhumba neenwele ezimfiliba kakhulu, isifuba sakhe simile ngendlela engaqhelekanga, umzimba wakhe mde kwaye ubhityile kunabanye abantwana, kunye neminwe yakhe emide nebhityileyo. |
| Ukukhula | Ukutyeba kancinci kunye nokukhula kancinci. |
| Amehlo | Ukulahlekelwa kakhulu kokubona (ukubona kufutshane), ukuphambuka kwelensi, kwanokungaboni. |
| Ezinye iimpawu ezinzulu | Ubuthathaka bamathambo (ukubuthathaka), amahlwili egazi (okunyusa umngcipheko wesifo sohlangothi nesifo sentliziyo), kunye nokuxhuzula. |
| Uphuhliso kunye nokuziphatha | Ukulibaziseka kokukhasa, ukuhamba, nokuthetha. Ukukhubazeka kokufunda kunye neengxaki zengqondo. Iingxaki zokuziphatha kunye nokulawula iimvakalelo. |
Oogqirha bayifumana njani le nto?
Kumazwe amaninzi, uvavanyo losana olusandul’ ukuzalwa lusetyenziselwa ukubona kwangethuba iimeko ezifana neHomocystinuria. Olu vavanyo lwegazi lubonisa ukuba umntwana usemngciphekweni wokufumana esi sifo.
Ukuba iziphumo aziqhelekanga, ugqirha uya kucebisa ukuba kwenziwe olunye uvavanyo olukhethekileyo lwegazi nomchamo ukuqinisekisa isifo. ESri Lanka, olu vavanyo ludla ngokucwangciswa emva kokuba kuvele iimpawu kwaye kuphela emva kokuba kukho amathandabuzo.
Iphathwa njani? Ngaba yinto yokoyika?
Hayi, ungakhathazeki. Eyona nto ibalulekileyo kukuqala unyango kwangoko nje ukuba isifo sifunyenwe.Ugqirha we-metabolic uza kukunceda ngale nto. Isicwangciso sonyango sinokuhluka kumntwana ngamnye.
Kukho iindlela ezimbini eziphambili zonyango:
1. Unyango lweVithamin B6
Kukho uhlobo lwe-homocystinuria olungenzima kangako. Lunokulawulwa ngokunika iidosi eziphezulu zezongezo ze-vitamin B6. Ugqirha wakho uza kuvavanya umntwana wakho ukuze abone ukuba olu nyango lufanelekile na kuye. Le vithamini inokunceda ekuthinteleni iingxaki zokuziphatha nezengqondo kwabanye abantwana, kwaye inokunceda ekunciphiseni umngcipheko weengxaki zamehlo, amathambo kunye nokuqhekeka kwegazi.
2. Ukutya okukhethekileyo (Ukutya okuneMethionine ephantsi)
Ukuba umntwana akasabeli kunyango lwe-vitamin B6, inyathelo elilandelayo kukuqala ukutya okune-methionine encinci . Olu hlobo lokudla ludla ngokuba lolobomi bonke. Kubalulekile ukufuna uncedo kwingcali yezondlo egxile kwizifo ze-amino acid.
| Izinto ekufuneka ziqwalaselwe xa ulandela ukutya okune-methionine ephantsi | |
|---|---|
| Ukutya okuneproteni eninzi ekufuneka kuphetshwe ngokupheleleyo |
|
| Ezinye ukutya onokuzinciphisa okanye ukuziyeka |
|
| Izinto onokuzitya ngononophelo | Iziqhamo nemifuno ziqulethe i-methionine encinci kakhulu, ngoko ke zinokutyiwa ngomlinganiselo olawulwayo , njengoko ugqirha wakho kunye nengcali yesondlo ecebisa. |
Ukongeza, ugqirha ucebisa ukuba umntwana anikwe ifomula ekhethekileyo endaweni yobisi. Le fomula iqulethe zonke ezinye izondlo ezifunekayo ekukhuleni komntwana, kunye ne-methionine esusiweyo.
Kwakhona, ugqirha angakunika ezinye izongezo ezininzi.
- I-Betaine kunye ne-folic acid: Ezi zinciphisa amanqanaba e-homocysteine eyingozi eqokelelana egazini.
- I-Vitamin B12 kunye ne-L-cysteine: Ezi zinokungabikho ngenxa yesi sifo. I-B12 inikwa njenge-shot kunye ne-L-cysteine njengesongezelelo.
Ukuqinisekisa ukuba unyango luyasebenza, igazi nomchamo womntwana wakho kuya kufuneka uvavanywe rhoqo. Njengoko umntwana wakho ekhula, kunokufuneka wenze utshintsho oluncinci kwisicwangciso sonyango.
Ngoko ke, sifanele sicinge ntoni ngekamva?
Iindaba ezimnandi zezokuba ukuba unyango luqalwe kwangethuba kwaye luqhubekeka ngokufanelekileyo, umntwana unokukhula aze akhule ngendlela eqhelekileyo . Unyango olufanelekileyo lunokunciphisa kakhulu umngcipheko westroke, isifo sentliziyo, kunye nokuqhekeka kwegazi.
Ngamanye amaxesha, iingxaki zokubona zinokubakho nangona unyango lukhona. Kodwa zinokulawulwa ngotyando okanye ezinye iindlela. Eyona nto ibalulekileyo kukuhlala unxibelelana rhoqo nogqirha wakho kwaye ulandele imiyalelo yakhe ngokuchanekileyo.
Umyalezo Wokuya Ekhaya
- I-Homocystinuria sisifo esingaqhelekanga semfuza apho umzimba ungakwazi ukugaya i-methionine, i-amino acid efumaneka ekutyeni esikutyayo.
- Le yimeko ebangelwa zi-genes ezineengxaki ezizuzwe njengelifa kumama nakutata.
- Iimpawu (ubude obufutshane, iingxaki zokubona, ukukhula okulibazisekileyo) zibonakala emva nje kokuba umntwana ezelwe.
- Le meko inokulawulwa ngempumelelo ngokutya okukhethekileyo okune-vitamin B6 okanye i-methionine encinci.
- Ukuxilongwa kwangoko kunye nonyango lobomi bonke kunokunceda umntwana wakho aphile ubomi obusempilweni nobuqhelekileyo. Ukuba unenkxalabo malunga noku, thetha ngokukhululekileyo nogqirha wakho.
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