Njengomzali, cishe ukhathazeka ngempilo yengane yakho encane. Ngezinye izikhathi kuyinto evamile ukuzizwa wesaba kancane uma ufunda ngezimo ezingavamile esingakaze sizwe ngazo. Nokho, namuhla sikhuluma ngesimo esingavamile abantu abaningi abangakaze bezwe ngaso, kodwa kubalulekile ukwazi ngaso. Igama laso yi-Homocystinuria.
Kalula nje, iyini i-Homocystinuria (HCY)?
Cabanga ngakho, siyazi ukuthi ukudla esikudlayo, ikakhulukazi inyama, inhlanzi, ubisi, namaqanda, kuqukethe amaprotheni . Le phrotheni enkulu yakhiwe ngezingcezu ezincane ezibizwa ngokuthi ama-amino acid . Njengezakhi zokwakha. Ngaphakathi emzimbeni womuntu ophilile, lawa ma-amino acid ayaqhekeka futhi agaywe, abe amandla umzimba wethu owadingayo.
Kodwa-ke, kumuntu one-Homocystinuria (HCY), umzimba awukwazi ukuphula nokugaya kahle i-amino acid ebizwa ngokuthi i-methionine . Lokhu kubizwa ngokuthi ukuphazamiseka kwe-metabolic. Uma lokhu kwenzeka, le methionine kanye nenye ikhemikhali ebizwa ngokuthi i-homocysteine, eyakhiwa yiyo, iqala ukuqongelela emzimbeni, ikakhulukazi egazini. Lokhu kuqongelela kuyingozi. Uma kungelashwa, lokhu kungabangela izinkinga ezinkulu zempilo.
Kungani lokhu kwenzeka? Iyini imbangela yalokhu?
I -enzyme ekhethekile emzimbeni wethu iyasiza enqubweni yokuphula le-amino acid ebizwa ngokuthi i-methionine. Cabanga ngale enzyme njengesikele. Lezi zikele zisika into enkulu ebizwa ngokuthi i-methionine ibe yizicucu ezincane.
Kumuntu one-homocystinuria, le enzyme (isikere) ayikhiqizwa emzimbeni, noma uma ikhiqizwa, ayisebenzi kahle.
Into ebalulekile ukuthi lesi yisifo esizuzwe njengefa . Lokho kusho ukuthi sidluliselwa ezizukulwaneni ngezizukulwane. Kunezakhi zofuzo ezimbili ezikufundisa ukuthi wenze le enzyme. Elinye kumele lizuzwe njengefa kumama wakho kanti elinye kumele lizuzwe kubaba wakho. Ukuze i-homocystinuria ikhule, kumele kube nephutha kuzo zombili izakhi zofuzo ezizuzwe njengefa kumama wakho nakubaba wakho.
Yiziphi izimpawu esingazibona?
Ngokumangalisayo, uma ubheka ingane ezelwe ne-Homocystinuria, akukho mehluko. Ziyizingane ezivamile ngokuphelele. Izimpawu ziqala ukuvela eminyakeni embalwa yokuqala yokuphila. Akuzona zonke izingane eziba nalezi zimpawu ngendlela efanayo. Ezinye izingane zingase zibe nezimpawu eziningana zalezi, kanti ezinye zingase zingabonisi lutho.
Naka izici ezikuthebula elingezansi.
| Isigaba sezici | Izimpawu ezivame ukubonakala |
|---|---|
| Ukubukeka komzimba | Unesikhumba nezinwele ezimpunga kakhulu, isimo sesifuba esingavamile, umzimba omude futhi omncane kunezinye izingane, neminwe emide, emincane. |
| Ukukhula | Ukukhuluphala kancane nokukhula. |
| Amehlo | Ukulahlekelwa umbono okukhulu (ukubona eduze), ukuhlukana kwelensi, ngisho nokungaboni. |
| Ezinye izimpawu ezinkulu | Ubuthakathaka bamathambo (ubuthaka), amahlule egazi (okwandisa ingozi yokushaywa unhlangothi nesifo senhliziyo), kanye nokuquleka. |
| Intuthuko kanye nokuziphatha | Ukubambezeleka kokukhasa, ukuhamba, nokukhuluma. Ukukhubazeka kokufunda nezinkinga zengqondo. Izinkinga zokuziphatha nezokulawula imizwa. |
Odokotela bakuthola kanjani lokhu?
Emazweni amaningi, ukuhlolwa kosana olusanda kuzalwa kusetshenziselwa ukuthola izimo ezifana ne-Homocystinuria kusenesikhathi. Lokhu kuhlolwa kwegazi kunikeza inkomba yokuthi ingane isengozini yokuthola lesi sifo.
Uma imiphumela ingajwayelekile, udokotela uzoncoma ukuhlolwa kwegazi nomchamo okukhethekile okwengeziwe ukuqinisekisa lesi sifo. ESri Lanka, lokhu kuhlolwa kuvame uku-oda ngemva kokuvela kwezimpawu futhi kuphela ngemva kokusola.
Iphathwa kanjani? Ingabe kuyinto okufanele uyesabe?
Cha, ungakhathazeki. Into ebaluleke kakhulu ukuqala ukwelashwa ngokushesha nje lapho isifo sesitholakele.Udokotela we-metabolic uzokusiza ngalokhu. Uhlelo lokwelashwa lungahluka kuye ngengane.
Kunezindlela ezimbili eziyinhloko zokwelapha:
1. Ukwelashwa nge-Vitamin B6
Kukhona uhlobo lwe-homocystinuria olungaba yingozi kangako. Lungalawulwa ngokunikeza imithamo ephezulu yezithako ze-vitamin B6. Udokotela wakho uzohlola ingane yakho ukuze anqume ukuthi lokhu kwelashwa kulungile yini kuyo. Le vithamini ingasiza ekuvimbeleni izinkinga zokuziphatha nezengqondo kwezinye izingane, futhi ingasiza ekunciphiseni ingozi yezinkinga zamehlo, amathambo, kanye nokuqhekeka kwegazi.
2. Ukudla okukhethekile (Ukudla Okune-Methionine Ephansi)
Uma ingane ingasabeli ekwelashweni nge-vitamin B6, isinyathelo esilandelayo ukuqala ukudla okune-methionine encane . Lokhu kudla kuvame ukuba yinto yokuphila konke. Kubalulekile ukufuna usizo kuchwepheshe wezokudla ochwepheshe bezinkinga ze-amino acid.
| Izinto okufanele uzicabangele uma ulandela ukudla okune-methionine ephansi | |
|---|---|
| Ukudla okunamaphrotheni amaningi okufanele kugwenywe ngokuphelele |
|
| Okunye ukudla okufanele kukhawulelwe noma kuyekwe |
|
| Izinto ongazidla ngokuqapha | Izithelo nemifino kuqukethe i-methionine encane kakhulu, ngakho-ke kungadliwa ngobuningi obulawulwayo , njengoba kwelulekwe udokotela wakho kanye nochwepheshe wezokudla. |
Ngaphezu kwalokho, udokotela uncoma ukuthi ingane inikwe ifomula ekhethekile esikhundleni sobisi. Le fomula iqukethe zonke ezinye izakhamzimba ezidingekayo ekukhuleni kwengane, bese i-methionine isuswa.
Futhi, udokotela angase anikeze ezinye izithako eziningana.
- I-Betaine ne-folic acid: Lokhu kunciphisa amazinga e-homocysteine eyingozi aqongelela egazini.
- I-Vitamin B12 kanye ne-L-cysteine: Lokhu kungashoda ngenxa yalesi sifo. I-B12 inikezwa njengomjovo kanye ne-L-cysteine njengesengezo.
Ukuze kuqinisekiswe ukuthi ukwelashwa kuyasebenza, igazi nomchamo wengane yakho kuzodingeka kuhlolwe njalo. Njengoba ingane yakho ikhula, kungadingeka wenze izinguquko ezincane ohlelweni lokwelashwa.
Ngakho-ke, yini okufanele siyicabange ngekusasa?
Izindaba ezinhle ukuthi uma ukwelashwa kuqalwa kusenesikhathi futhi kuqhubeka kahle, ingane ingakhula futhi ithuthuke ngendlela evamile . Ukwelashwa okufanele kunganciphisa kakhulu ingozi yokushaywa yisifo sohlangothi, isifo senhliziyo, kanye nokuqhekeka kwegazi.
Ngezinye izikhathi, izinkinga zokubona zingase zivele naphezu kokwelashwa. Kodwa zingaphathwa ngokuhlinzwa noma ezinye izindlela. Into ebaluleke kakhulu ukuxhumana njalo nodokotela wakho nokulandela imiyalelo yakhe ngqo.
Umlayezo Wokuya Nawe Ekhaya
- I-Homocystinuria yisifo esingavamile esibangelwa izakhi zofuzo lapho umzimba ungakwazi ukugaya i-methionine, i-amino acid etholakala ekudleni esikudlayo.
- Lesi yisimo esibangelwa izakhi zofuzo ezinephutha ezizuzwe kumama nakubaba.
- Izimpawu (ubude obufushane, izinkinga zokubona, ukukhula okulibazisekile) zivela ngokushesha ngemva kokuzalwa kwengane.
- Lesi simo singaphathwa ngempumelelo ngokudla okukhethekile okunevithamini B6 noma i-methionine eningi.
- Ukuxilongwa kusenesikhathi kanye nokwelashwa impilo yonke kungasiza ingane yakho ukuba iphile impilo enempilo nejwayelekile. Uma unenkinga ngalokhu, khuluma nodokotela wakho ngokukhululekile.
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