Ingabe ingane yakho encane iyakhathala ngemva kokudlala isikhashana? Noma ingabe ihlala ibukeka igula, ingafuni ukudla, noma ilele? Ngezinye izikhathi sicabanga ukuthi lezi yizinto ezivamile, kodwa ngemuva kwalokhu kungaba yisimo esingavamile kakhulu, kodwa esibi kakhulu sezakhi zofuzo . Namuhla sikhuluma ngesinye salezo zimo, i-Long-Chain Fatty Acid Oxidation Disorders, noma i-LC-FAODs .
Kalula nje, ziyini lezi LC-FAOD?
Leli igama eliyinkimbinkimbi kancane, kodwa masiligcine lilula. Umzimba wethu ufana nemoto. Udinga amandla, noma uphethiloli, ukuze usebenze. Ukudla esikudlayo kuwuphethiloli womzimba wethu. Inqubo lapho lokhu kudla kuguqulwa khona kube amandla ibizwa ngokuthi i-metabolism .
Ukudla esikudlayo, njengamafutha omnqumo , inhlanzi , ukwatapheya, nenyama, kuqukethe okuthile okubizwa ngokuthi 'ama-fatty acid'. Lawa angumthombo omuhle wamandla emzimbeni. Kunezinhlobo eziningana zala ma-fatty acid. Phakathi kwawo, uhlobo olubizwa ngokuthi 'ama-fatty acid amade' ludinga i-enzyme ekhethekile ukuze luwaguqule abe amandla.
Izingane ezizalwa zinesimo sofuzo esibizwa ngokuthi ama-LC-FAOD azinawo lowo enzyme emizimbeni yazo. Ngakho-ke imizimba yazo ayikwazi ukuguqula lawa ma-fatty acid amade abe amandla.
Kwenzekani-ke?
1. Izitho ezibalulekile njengenhliziyo, ubuchopho , isibindi kanye nemisipha azitholi amandla adingekayo.
2. Ama-fatty acid angenakushintshwa abe amandla aqoqana kulezo zitho zomzimba bese eqala ukuzilimaza.
Lokhu kungaholela ezinkingeni ezinkulu ezifana nesifo senhliziyo , ukwehluleka kwesibindi , kanye namazinga kashukela aphansi kakhulu egazini . Ngakho-ke, kubaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi futhi ulawule ukudla ngendlela efanele .
Ziyini izimpawu zalesi sifo?
Izimpawu zingahluka kumuntu nomuntu. Kuya ngohlobo lwe-enzyme engekho kanye nobunzima besifo. Abanye abantu bangase bangakhombisi zimpawu kuze kube yilapho sebekhulile noma sebekhulile. Kodwa ezimweni ezimbi kakhulu, izimpawu ziqala ukuvela ezinyangeni ezimbalwa zokuqala zokuphila.
Izimpawu zokuqala zesifo semisipha yenhliziyo ezinganeni ezisanda kuzalwa yi-"cardiomyopathy". Lokhu kuhlanganisa ubunzima bokuphefumula, ubunzima bokudla, kanye nokulala ngokweqile. Izinsana nezingane ezincane zingase zibonise izimpawu zokuqala zezinkinga zesibindi, njengokuphuzi kwamehlo nesikhumba (i-jaundice), kanye namazinga aphansi kashukela egazini (i-hypoglycemia).
Ake sibheke izimo eziyinhloko ezingase zenzeke kulokhu nokuthi yiziphi izimpawu ezihambisana nazo.
| Isimo | Izimpawu ezivamile |
|---|---|
| Izici ezijwayelekile |
|
| Ushukela ophansi egazini (i-Hypoglycemia) | |
| Ukwanda kwamazinga e-ammonia egazini (i-Hyperammonemia) | |
| I-cardiomyopathy |
Into ebalulekile ukuthi kwabanye abantwana, lezi zimpawu zivela kuphela uma begula, belambile, noma becindezelekile.
Yini ebangela lesi sifo?
Lesi yisifo esiwufuzo ngokuphelele. Okusho ukuthi, sizuzwe kubazali kubantwana. Kalula nje, imbangela ukuguqulwa kwezakhi zofuzo okufundisa ukukhiqizwa kwe-enzyme ephula ama-fatty acid esikhulume ngawo.
Ukuze ingane ibe nalesi sifo, kumele ithole ikhophi yesakhi sofuzo esinephutha kubazali bobabili . Uma izuza kumzali oyedwa kuphela, ingane "iyimthwali". Ngeke ibe nezimpawu, kodwa ingadlulisela isakhi sofuzo ezinganeni zayo.
Lesi akusona isifo esithelelanayo. Asikwazi ukudluliselwa kusuka komunye umuntu siye komunye nganoma iyiphi indlela.
Ungasithola kanjani lesi sifo?
Emazweni amaningi, zonke izingane ezisanda kuzalwa ziyahlolwa lezi zifo zofuzo. Lokhu kwenziwa ngesampula encane yegazi ethathwe esithendeni zingakapheli izinsuku ezingu-1-2 kusukela zizelwe. Uma lokhu kuhlolwa kunikeza umbono wesifo, kwenziwa ezinye izivivinyo ukuqinisekisa lesi sifo.
Ukuhlolwa okuyinhloko okwenziwe kulokhu yile:
- Ukuhlolwa kwegazi nomchamo: Lokhu kuhlola amazinga aphezulu kakhulu ama-fatty acid nezinye izinto egazini nasemchameni.
- Ukuhlolwa kofuzo: Lena yindlela kuphela yokunquma ngokuqinisekile ukuthi une-LC-FAODS nokuthi, uma kunjalo, uhlobo luni.
Uma ingane yakho inezimpawu esixoxe ngazo ekuqaleni, kubaluleke kakhulu ukubona udokotela wezingane ngokushesha ukuze uxoxe ngalokhu.
Iphathwa kanjani?
Nakuba lesi sifo singelapheki ngokuphelele, ngokuphathwa okufanele , izinkinga ezinkulu zingagwenywa futhi impilo evamile ingaholwa. Ukwelashwa okuyinhloko kufaka phakathi izinguquko zokudla, izithasiselo zokudla ezikhethekile, kanye noshintsho lwendlela yokuphila.
1. Ukudla
Lokhu kuyinto ebaluleke kakhulu. Lokhu kudla kufanele kulungiselelwe ngaphansi kweseluleko sikachwepheshe wezokudla.
- Nciphisa ukudla okunama-fatty acid amaningi: Ukudla okufana nenyama, amafutha emifino, amantongomane nenhlanzi kufanele kuncishiswe.
- Yidla ukudla okucebile ngama-carbohydrate: Ukuze uthole amandla, kufanele ufake ukudla okucebile ngama-carbohydrate njengelayisi, amazambane, kanye namazambane amnandi ekudleni kwakho.
- Yidla ukudla okuncane, njalo: Kubalulekile ukudla ngezikhathi ezijwayelekile phakathi nosuku ukuze amazinga kashukela egazini ahlale eqinile.
- Gwema ukuzila ukudla: Akukuhle ukulamba isikhathi esingaphezu kwamahora angu-8.
Uma ushukela wegazi wengane yakho wehla ngokuzumayo kakhulu, kungase kudingeke iye esibhedlela futhi inikwe isixazululo sikashukela (IV) ngesisombululo sikasawoti esinikezwa ngemithambo yegazi e-Emergency Treatment Unit (ETU).
2. Izithako zokudla okunempilo
Ngenxa yokuthi laba ziguli abakwazi ukusebenzisa ama-fatty acid amade, banikezwa olunye uhlobo lwamafutha umzimba ongaluguqula kalula lube amandla. Lawa abizwa ngokuthi ama-triglycerides aphakathi nendawo (ama-MCT) . Lawa atholakala njengamafutha e-MCT. Lawa ma-MCT anezelwa nakwamanye amafomula ezinsana. Udokotela wakho uzokunikeza ulwazi olwengeziwe ngalokhu.
3. Imithi
Umuthi obizwa ngokuthi i-Triheptanoin (Dojolvi) uvunyelwe ukusetshenziswa kwe-LC-FAODs. Utholakala kuphela ngomuthi kadokotela wakho .
4. Izinguquko endleleni yokuphila
Kubalulekile ukugwema izinto ezibangela izimpawu zibe zimbi kakhulu.
- Gwema ukuvivinya umzimba ngokweqile: Nciphisa imisebenzi ebeka umzimba ukucindezeleka okukhulu.
- Lawula ukucindezeleka: Izinto ezifana ne-yoga nokuzindla zingaba usizo.
- Zivikele ekuguleni: Thola yonke imijovo udokotela wakho ayincomayo ngesikhathi. Funa ukwelashwa ngokushesha ngisho noma umkhuhlane omncane noma umkhuhlane.
Ingabe ukuphila nalesi sifo kuyinselele?
Yebo, yebo. Lesi yisimo sokuphila konke esidinga ukuphathwa. Udinga ukuqaphela ngokudla kwakho. Udinga ukwazi ukuthi yini okufanele uyenze esimweni esiphuthumayo. Lokhu kungaba ukucindezeleka kwengqondo kokubili enganeni nakubazali.
Ngakho-ke,
- Funda kahle ngalesi sifo: ulwazi lungamandla amakhulu.
- Funa ukwesekwa kwengqondo: Unganqikazi ukufuna usizo emndenini, kubangani, noma kumeluleki wezempilo yengqondo.
- Hlala uxhumane nodokotela wakho: Mbuze uma unemibuzo noma ukukhathazeka.
Nakuba lesi sifo singavamile, ngokuphathwa nokunakekelwa okufanele, ingane ingaba nokuphila okuhle. Into ebaluleke kakhulu ukuxilonga lesi sifo kusenesikhathi bese ulandela imiyalelo kadokotela.
Umlayezo Wokuya Nawe Ekhaya
- I-LC-FAODs yisimo esibi kakhulu sezakhi zofuzo esenzeka ezinganeni nakubantu abadala, futhi sibangelwa ukungakwazi komzimba ukuguqula izinhlobo ezithile zamafutha zibe amandla.
- Izimpawu ezifana nokukhathala okukhulu, ubuthakathaka bemisipha, izinkinga zenhliziyo nesibindi, kanye noshukela wegazi ophansi zingase zibe khona.
- Lesi akusona isifo esithelelanayo. Kuyinto ezuzwa njengefa kubazali kubantwana.
- Izingxenye eziyinhloko zokwelapha ukudla okukhethekile, izithasiselo zokudla okunempilo ezifana namafutha e-MCT, kanye nokugwema izinto ezikhulisa izimpawu.
- Uma ingane yakho inanoma yiziphi zalezi zimpawu, bona udokotela wakho ngokushesha ukuze uthole iseluleko. Ukuxilongwa kusenesikhathi kubaluleke kakhulu.
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