Ngaba umntwana wakho usoloko ediniwe kwaye elele? Ngaba kuba nzima kakhulu nokuba ubanjwe ngumkhuhlane okanye akasatyi? Ngaba uyahlanza okanye uphelelwa ngamandla ngamaxesha anjalo? Mhlawumbi kukho imeko yezonyango engasemva kwezi zinto esingathethi kakhulu ngazo, kodwa kubaluleke kakhulu ukuyazi. Leyo yenye yeemeko ezinjalo ezibizwa ngokuba yi-MCAD deficiency. Namhlanje, siza kuthetha ngale nto ngokulula, ngendlela onokuyiqonda.
Ngamafutshane, yintoni i-MCAD deficiency?
Cinga ngemizimba yethu njengemoto. Imoto ifuna ipetroli ukuze isebenze. Ngendlela efanayo, umzimba wethu udinga amandla ukuze wenze umsebenzi wawo. Sifumana la mandla ekutyeni esikutyayo. Imithombo yethu ephambili yamandla ziicarbohydrate (iitatshi) kunye namafutha.
Ngokwesiqhelo, imizimba yethu isebenzisa iicarbohydrate kuqala ukuze ifumane amandla. Kodwa xa sichitha iiyure singatyi, okanye xa singakwazi ukutya ngenxa yezifo ezifana nomkhuhlane okanye ukuhlanza, imizimba yethu iqala ukusebenzisa amafutha njengomthombo wamandla wesibini.
Kukho i-enzyme ekhethekileyo emizimbeni yethu eguqula la mafutha abe ngamandla. Ibizwa ngokuba yi -Medium-chain acyl-coenzyme A dehydrogenase . Le enzyme inceda ekuqhekezeni ii-fatty acids ze-medium-chain ezifumaneka ekutyeni esikutyayo nasemizimbeni yethu kwaye idale amandla.
Kumntwana onesifo se-MCAD , umzimba awuvelisi ngokwaneleyo i-enzyme ekhethekileyo endikhankanyileyo. Oko kuthetha ukuba kukho ukungabikho kwayo. Ngoko ke into eyenzekayo kukuba ukuba lo mntwana uhlala engatyi ixesha elide, umzimba wakhe awunakusebenzisa amafutha ukuvelisa amandla. Ngenxa yoku, amandla omzimba ayancipha ngequbuliso, aze umntwana afumane imeko enzima.
Ingaba le meko yenzeka njani? Ingaba yimfuza?
Ewe, le yimeko yemfuza ngokupheleleyo . Oko kuthetha ukuba ifunyenwe kumama okanye kutata. Isizathu sale nto kukuguquka kwejini ebizwa ngokuba yi-'ACADM'.
Oku kuzuzwe njengelifa kwipateni 'ye-autosomal recessive' . Ndiza kuchaza ukuba oko kuthetha ukuthini ngokulula.
Khawuthelekelele ukuba bobabini abazali banekopi enye esempilweni yejini ethi `ACADM`, kwaye enye ikopi inotshintsho oluncinci (utshintsho). Kodwa ngenxa yokuba benekopi enye esempilweni, akukho mzali ubonisa naziphi na iimpawu. Babizwa ngokuba ``abathwali.''
Xa abazali ababini abathwala abantwana abanjalo benomntwana,
- Kukho amathuba angama-25% okuba umntwana abe nale meko (ukuba uzuze ilifa le gene eguquliweyo kumama nakutata wakhe).
- Kukho amathuba angama-50% okuba umntwana abe nomntwana ongenazimpawu, njengabazali bakhe.
- Kukho amathuba angama-25% okuba umntwana akayi kulidla ilifa eli jini liguqukileyo kwaphela aze abe ngumntwana osempilweni ngokupheleleyo.
Into ebalulekileyo kukuba ekubeni esi sisifo semfuza, akukho nto abazali abanokuyenza ngaphambi okanye ngexesha lokukhulelwa ukuthintela ukuba singadluliselwa kumntwana wabo. Ngoko ke musa ukuziva unetyala ngaso.
Zithini iimpawu zokungabikho kwe-MCAD?
Ezi mpawu zihlala zibonakala ngexesha lobuntwana okanye ebuntwaneni, ingakumbi xa umntwana egula ngumkhuhlane okanye ehlanza kwaye engakwazi ukutya, okanye xa umsantsa phakathi kokutya usanda.
Masihlukanise ezi mpawu zibe ziintlobo ezimbini.
| Iimpawu eziqhelekileyo | Iimeko ezinzulu nezingxamisekileyo |
|---|---|
| Iswekile ephantsi egazini (iHypoglycemia): Umntwana usenokuba mnyama ngequbuliso, abile, aze agodole. | Ukuxhuzula: Ukulahlekelwa yingqondo ngequbuliso kunye nokuxhuzula. |
| Ukuhlanza: Ukuhlanza ukutya. | Ubunzima bokuphefumla: Ubunzima bokuphefumla. |
| Ukulala kakhulu kunye nokudinwa: Ukuziva ukozela kunye nokudinwa okwenza kube nzima ukuvusa umntwana. | Iingxaki zesibindi: Umonakalo wesibindi. |
| Ubuthathaka bemisipha: Ukuziva ubuthathaka kwaye utyhafile. | Ukonakala kwengqondo kunye nokungakhuli kakuhle: Ukulahlekelwa zingqondo. |
Oogqirha bayixilonga njani le sifo?
Eyona nto ilungileyo apha kukuba kule mihla, xa kuzalwa umntwana , kuzalwa umntwana osandul’ ukuzalwa.Ukuhlolwa kosana olusandul’ ukuzalwa kuvumela ukubonwa kwangethuba kwezifo ezininzi, ezinje ngokungabikho kwe-MCAD. Olu vavanyo lwenziwa kusetyenziswa amathontsi ambalwa egazi athathwe esithendeni somntwana kwiintsuku ezimbalwa emva kokuzalwa.
Oku kuthetha ukuba umntwana unokufunyanwa enale meko ngaphambi kokuba abonakalise naziphi na iimpawu. Le yinto enokusindisa ubomi bakhe.
Ukuba ukuhlolwa kosana olusandul’ ukuzalwa kuphakamisa ukurhanelwa malunga nale meko, ugqirha uya kuyalela iimvavanyo ezongezelelweyo ukuze kuqinisekiswe oko.
- Uvavanyo lwemfuza
- Uvavanyo lwegazi nomchamo
Emva kokuqinisekisa isifo, ugqirha uza kunika umntwana unyango olufunekayo kunye neengcebiso.
Zithini iindlela zonyango zoku? Ungamnyamekela njani umntwana?
Ukunyanga ukungabikho kwe-MCAD kubandakanya kakhulu ukulawula ukutya komntwana . Eyona nto ibalulekileyo apha kukugcina amanqanaba amandla omntwana. Oko kukuthi, umntwana akufuneki ahlale ixesha elide engatyi .
Nazi ezinye izinto ezibalulekileyo ekufuneka uziqwalasele ngexesha lonyango kunye nolawulo.
- Mnike ukutya rhoqo: Musa ukuvumela umntwana wakho alambe iiyure ezininzi. Ukongeza kwizidlo eziphambili, kufuneka umnike ukutya okulula. Akulunganga ukuhlala ungatyi ixesha elide, nokuba kusebusuku. Xa umntwana wakho esemncinci, kusenokufuneka umvuse ebusuku ukuze umnike ubisi nokutya.
- Ukutya okutyebileyo kwiikhabhohayidreyithi: Faka ukutya okunesitatshi okufana nerayisi, isonka, iitapile, iitapile ezimnandi, kunye neenkozo ekutyeni komntwana wakho. Oku kunika umzimba amandla owadingayo ngokulula.
- Nciphisa ukutya okunamafutha amaninzi: Oku akuthethi ukuba ungazityi ngokupheleleyo izinto ezinamafutha amaninzi, kodwa licebo elihle ukunciphisa izinto ezifana nokutya okunamafutha amaninzi, okuqhotsiweyo.
- Izongezo zeCarnitine: Abanye abantwana banokunikwa isongezo esibizwa ngokuba yi-"Carnitine" ngugqirha wabo. Oku kunceda umzimba ukuguqula amafutha abe ngamandla.
Wenza ntoni xa ugula?
Le yeyona nto ibalulekileyo. Ukuba umntwana onesifo se-MCAD unesifo esifana nomkhuhlane, ukuhlanza, okanye urhudo, kuyingozi kakhulu. Kuba ngelo xesha umntwana akayi kutya, kwaye amandla omzimba aya kuncipha ngokukhawuleza.
Soloko ubona ugqirha xa egula. Okwangoku, ekhaya, nika umntwana wakho ulwelo oluneswekile okanye iglucose (umz., iJeevani, ijusi yeziqhamo) ukuba asele. Ungaze umvumele alambe.
Ngamanye amaxesha, ukuba umntwana kufuneka enziwe utyando, kuya kufuneka azile ukutya ngaphambi kokuba kwenziwe olu tyando. Kwimeko ezinjalo, ugqirha uya kumlalisa esibhedlele aze amnike i-glucose saline (IV fluids) ukuze ahlale enamanzi.
Ndifanele ndimbone nini ugqirha? Ndifanele ndiye nini kwi-ETU?
Ukuba umntwana wakho ufunyaniswe ukuba une-MCAD deficiency, bona ugqirha wakho ngoko nangoko kwezi meko zilandelayo:
- Ukuba umntwana akatyi ngendlela eqhelekileyo okanye akatyi rhoqo.
- Ukuba umntwana unomkhuhlane, uqhubeka elele kakhulu, okanye ubonakala ediniwe.
- Ukuba umntwana uyaqhubeka nokuhlanza.
Ixesha lokuya kwiYunithi yoNyango oluNgxamisekileyo (i-ETU) ngoko nangoko:
- Ukuba umntwana wakho unesithuthwane, mse kwigumbi likaxakeka lesibhedlele elikufutshane (ETU) ngaphandle kokuchitha ixesha. Isithuthwane sesinye sezona ngxaki zinzima zesi sifo.
Ngaba umntwana onesi sifo angaphila ubomi obuqhelekileyo?
Ewe ngokwenene! Leyo yeyona nto ibalulekileyo neyanelisayo apha. Ukuba esi sifo sifunyanwa kwangethuba ngokuhlolwa kweentsana xa zizalwa kwaye ukutya kulawulwe kanye njengoko kuyalelwe ngugqirha, uninzi lwabantwana lunokuphila ubomi obusempilweni nobuqhelekileyo ngaphandle kweengxaki.
Nangona kunjalo, ukuba esi sifo asifumaneki, oko kukuthi, ukuba asinyangwa xa kuvela iimpawu, phakathi kwama-20%-25% abantwana banokuba nokukhubazeka kwexesha elide okanye bade bafe. Yiyo loo nto ukuhlolwa kweentsana ezisandul’ ukuzalwa kunye nokufunyanwa kwesi sifo kwangethuba kubaluleke kangaka.
Umyalezo Wokuya Ekhaya
- Ukungabikho kwe-MCAD akusisifo esibangelwa yimpazamo yabazali, yimeko yemfuza.
- Uvavanyo lokuhlolwa kweentsana ezisandul’ ukuzalwa emva kokuba umntwana ezelwe lubaluleke kakhulu ekufumaneni esi sifo kwangethuba.
- Unyango oluphambili lwesi sifo kukulawula ukutya. Ungaze umvumele umntwana alambe ixesha elide.
- Lumka ngakumbi xa umntwana wakho egula (umkhuhlane, ukuhlanza). Bonana nogqirha ngoko nangoko.
- Ngokuphathwa ngendlela eyiyo, umntwana onesifo se-MCAD angaphila ubomi obuqhelekileyo nobusempilweni. Ngoko ke ungakhathazeki.
💬 Comments (0)
No comments yet. Be the first to share your thoughts here.
Add Your Comment