Ingabe ingane yakho encane ayikhuli njengoba kulindelekile? Noma ingabe ihlala ikhathele futhi ilele? Ngezinye izikhathi, ngemuva kwalezi zinto, kungase kube nesimo sezokwelapha esingasizwa kakhulu ngaso, kodwa singaba sibaluleke kakhulu. Namuhla sikhuluma ngesimo esinjalo. Leso amaphutha esizalwa nawo e-metabolism, noma ngokwezokwelapha, isimo esibizwa ngokuthi ama-Inborn Errors of Metabolism (IEM) . Ungesabi, noma ngabe igama liyinkimbinkimbi kancane, ake sixoxe ngakho kalula.
Iyini le 'nqubo ye-metabolic'?
Kalula nje, imizimba yethu ifana nenjini yemoto. Ukudla esikudlayo nesikuphuzayo kunguphethiloli onika amandla le njini. I-Metabolism inqubo yonke yokuthatha lophethiloli uwuguqule ube amandla, wenze izinto umzimba ozidingayo ukuze ukhule, futhi ulahle imfucuza. Uma lokhu kusebenza kahle, imizimba yethu iphilile.
Ngakho-ke, iphutha elizalwa nalo lokuguqulwa kwe-metabolism (IEM) liyiphutha elincane elizalwa nalo endaweni ethile kule njini, le nqubo yokuguqulwa kwe-metabolism. Lokhu kubangela ukuthi umzimba ungakwazi ukuguqula kahle ukudla okuthile kube amandla, noma ungakwazi ukususa ubuthi obuyingozi emzimbeni, obuqongelela emzimbeni.
Yiziphi izinhlobo eziyinhloko zekhwalithi ye-IEM?
Kunezimo ezinjalo eziningi. Ngayinye ihlukile. Kodwa ake siqaphele ezimbalwa zezinhlobo ezivame kakhulu. Lezi zivame ukuqanjwa ngegama le-enzyme engasebenzi kahle.
| Uhlobo lwesimo sezokwelapha | Kwenzekani nje? |
|---|---|
| Izinkinga zokugcina i-Lysosomal | Imfucuza yomzimba ayikwazi ukuhlakazwa futhi isuswe kahle. Lokhu kubangela ukuthi ubuthi buqoqeke emzimbeni. Izibonelo: I-Hurler syndrome, isifo se-Gaucher. |
| Isifo somchamo wesiraphu ye-maple | Ama-amino acid aqoqana emzimbeni futhi alimaze uhlelo lwezinzwa. Umchamo wengane unuka njenge-maple syrup. |
| Isifo sokugcina i-Glycogen | Umzimba awukwazi ukugcina ushukela (i-glucose) otholakala ekudleni, okubangela amazinga kashukela egazini aphansi. |
| Izifo ze-Mitochondria | Amaseli omzimba awakwazi ukukhiqiza amandla anele ekudleni. Lokhu kuthinta izitho eziningi zomzimba, njengobuchopho, imisipha, nesibindi. |
| Izinkinga ze-metabolism yensimbi | Izinsimbi ezidingwa ngumzimba, njengethusi noma insimbi, ziqongelela emzimbeni zibe amazinga anobuthi. Izibonelo: Isifo sikaWilson, i-hemochromatosis. |
| Isifo somjikelezo we-urea | I-ammonia enobuthi ekhiqizwa emzimbeni ayikwazi ukususwa futhi iqongelela egazini. |
Kungani lokhu kwenzeka? Lokhu kwenzeka kubani?
Lokhu kuyinto ebaluleke kakhulu. Lezi zimo zibangelwa ukuguquka kwezakhi zofuzo . Okusho ukuthi, akubangelwa yiphutha likamama noma likababa. Kubangelwa ushintsho olucashile kakhulu olwenzeka ngesikhathi sokuhlukaniswa kwamaseli lapho umntwana ekhulelwa.
Izakhi zofuzo emzimbeni wethu zisiyala ukuba senze amaprotheni abizwa ngokuthi ama-enzyme adingekayo ezinqubweni ze-metabolic. Cabanga ngala ma-enzyme njengezisebenzi emzimbeni wethu. Endabeni ye-IEM, okwenzekayo ukuthi ngenxa yaleso sici sofuzo, laba basebenzi abatholi imiyalelo yokusebenza kahle.
Lesi simo singaba khona kunoma ubani, kodwa uma othile emndenini wake waba nalesi simo ngaphambili, kunengozi ethile yokuthi nengane izosithola.
Ziyini izimpawu zalesi simo?
Izimpawu zingahluka kakhulu kumuntu nomuntu futhi kuye ngohlobo lwesifo. Ngezinye izikhathi izimpawu zingaba zicashile kakhulu, kanti ngezinye izikhathi zingaba zimbi kakhulu. Nazi ezinye zezimpawu ezivame kakhulu.
- Ukwehluleka kokukhula: Ukwehluleka ukukhuluphala noma ukuphakama.
- Isifiso sokudla:Ukungafuni komntwana ukudla noma ukuphuza ubisi.
- Ukukhathala njalo kanye nokulala: Ingane ivame ukuba buthakathaka futhi ingasebenzi.
- Ukwehlisa isisindo.
- Ukuba nesithuthwane (ukuxhuzula).
- Iphunga elingavamile elivela emchameni, ekujulukeni, noma ekuphefumuleni: Isibonelo, ezinye izifo zingase zibe nephunga elimnandi, kanti ezinye zingase zibe nephunga elihluke ngokuphelele.
- Ubuhlungu besisu nokuhlanza.
Akuzona zonke izingane ezinalezi zimpawu ezine-IEM, kodwa uma eyodwa noma ngaphezulu yalezi zimpawu ziqhubeka, kubalulekile ukubona udokotela ngokushesha.
Ungasibona kanjani lesi simo?
Ngenhlanhla, namuhla, eziningi zalezi zifo zingatholakala ngokushesha ngemva kokuzalwa. Kwamanye amazwe, lezi zifo zitholakala ngokuhlolwa kwezinsana. ESri Lanka, lezi zivivinyo zenziwa nakwezinye izifo.
Izivivinyo eziyinhloko ezisetshenziswa ukuxilonga lesi sifo yilezi:
- Ukuhlolwa kwegazi nomchamo (Ukuhlolwa kwe-Metabolic): Lokhu kungabona izinto ezingavamile zamakhemikhali eziqongeleleke emzimbeni.
- Ukuhlolwa kofuzo: Isampula yegazi noma isampula yamathe kungasiza ekunqumeni ukuthi yiliphi ifuzo elinephutha.
- I-Amniocentesis: Ngesikhathi sokukhulelwa, isampula encane yoketshezi lwe-amniotic oluzungeze umntwana ingathathwa ukuze kubonakale ukuthi umntwana unalesi simo.
- Ukuhlolwa kwamehlo: Ukuhlolwa kwamehlo nakho kungenziwa, njengoba ezinye izimo ze-IEM zingathinta namehlo.
Iphathwa kanjani?
Izindlela zokwelapha ziyahlukahluka kuye ngohlobo lwesifo, kodwa umgomo oyinhloko ukuvimba umzimba ukuthi ungamunci izinto ongakwazi ukuzisingatha nokususa ubuthi obuqongeleleke emzimbeni.
1. Ukushintsha ukudla kwakho: Lena yindlela eyinhloko yokwelapha. Ukudla umzimba ongakwazi ukukucubungula (isib. amaprotheni athile, amafutha) kumele kukhishwe ngokuphelele ekudleni. Lokhu kudinga iseluleko sesazi sokudla okunempilo kanye nodokotela.
2. Ukuthatha umuthi: Kunganikezwa imithi yokushintsha ama-enzyme noma imithi esiza ukususa ubuthi ukuze kufakwe ama-enzyme antulayo emzimbeni.
3. Ukuhlanza igazi: Kwezinye izimo ezinzima, ubuthi obuqongeleleke egazini bungadinga ukususwa ngosizo lomshini.
4. Ukufakelwa isitho somzimba: Ezimweni ezimbi kakhulu, ukufakelwa isibindi kungadingeka, isibonelo.
Ezimweni ezinjengalezi, kubalulekile ukuxilonga lesi sifo bese uqala ukwelashwa ngokushesha okukhulu. Lokhu kwandisa kakhulu amathuba engane okuphila impilo evamile.
Kufanele ngimbone nini udokotela?
Uma ungumama okhulelwe, khuluma nodokotela wakho mayelana nokuhlolwa okungenziwa kumntwana wakho.
Uma ingane yakho inanoma yiziphi izimpawu ezishiwo ngenhla, ikakhulukazi uma kukhona izinkinga zokukhula, qiniseka ukuthi ubona udokotela wezingane.
Okubaluleke kakhulu: Uma ingane yakho inesifo sokuwa noma ikhathele kakhulu, yiyise e-Emergency Treatment Unit (ETU) yesibhedlela esiseduze ngokushesha.
Ukuphila nalezi zimo kungaba yinselele, ikakhulukazi uma kukhulunywa ngokudla. Kodwa ngeseluleko sezokwelapha esifanele kanye nokwelashwa, laba bantwana bangaphila impilo evamile nejabulisayo.
Umlayezo Wokuya Nawe Ekhaya
- Amaphutha okuzalwa nawo e-metabolism (IEM) ayisimo sofuzo. Akubangelwa yiphutha labazali.
- Kulesi simo, umzimba awukwazi ukuguqula ukudla kube amandla noma ukususa ubuthi.
- Uma ingane yakho ingakhuli kahle, ihlala ikhathele, ilahlekelwa yisifiso sokudla, noma inephunga elingavamile, funa iseluleko sezokwelapha.
- Ukuxilongwa kusenesikhathi kanye nokwelashwa impilo yonke (ikakhulukazi ukulawula ukudla) kungasiza ingane ukuba iphile impilo enempilo.
- Landela imiyalelo kadokotela wakho ngqo ngaso sonke isikhathi. Uma ungabaza, buza kaninginingi.
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