Ingabe ingane yakho inenkinga yokugaya ushukela wobisi? Ake sixoxe nge-Galactosemia!

Uma uncelisa umntwana osanda kuzalwa, kungaba ubisi lwebele noma ubisi lwefomula, ngezinye izikhathi kuvela izinkinga ezincane, akunjalo? Cabanga, kuthiwani uma ingane yakho ingakwazi ukugaya uhlobo oluthile lukashukela ebisini? Yebo, kungenzeka. I-Galactosemia ukungakwazi ukugaya uhlobo lukashukela ebisini olubizwa ngokuthi 'i-galactose'. Lokhu kungaba yisimo esibi kakhulu, kodwa uma sibonakala kusenesikhathi, singanciphisa izinkinga eziningi ezinkulu ingane engaba nazo.

Lesi simo sithinta kanjani umzimba womntwana?

Kalula nje, lapho umzimba wengane yakho ungakwazi ukuphula i-galactose kashukela etholakala ekudleni, ikakhulukazi ubisi, bese uyiguqula ibe amandla, iqala ukunqwabelana egazini. Eqinisweni, igama elithi 'galactosemia' lisho ukuthi "ukuba khona kwe-galactose egazini." Ngakho-ke lapho i-galactose inqwabelana egazini, isakazeka emzimbeni wonke. Bese kuthi, i-enzyme engavamile ukusebenza ne-galactose iguqule le galactose ibe utshwala obubizwa ngokuthi 'i-galactitol.' Le galactitol inobuthi emzimbeni.

Uma le galactitol enobuthi inqwabelana ezithweni nasezicutshini zomntwana, iqala ukulimaza. Uma ingelashwa, i-galactosemia ingabangela imiphumela emibi kakhulu efana nalokhu:

• Ama-cataract .
• Ukulibaziseka kokukhula .
• Ukukhubazeka kwengqondo .
• Ubunzima bokukhuluma .
• Ubunzima bokunyakaza kahle nangokubi, okusho ubunzima ngamakhono okunyakaza kahle , njengokuhamba nokugijima.
• Ukukhubazeka kwemizwa .
• Isifo sezinso .
• Ukungasebenzi kahle kwe-ovarian kwangaphambi kwesikhathi ezinganeni zabesifazane.
• Ukwehluleka kwesibindi .
• I-Sepsis iwukutheleleka okukhulu.

Cabanga ukuthi kubaluleke kangakanani ukuqaphela lesi simo kusenesikhathi! Uma usiqaphela kusenesikhathi, ususe i-galactose ekudleni kwengane yakho, futhi usiphathe kahle, ungavimbela eziningi zalezi zinkinga.

Kodwa-ke, ngisho noma kutholakala futhi kwelashwa kusenesikhathi, ezinye izingane zingase ziqhubeke nokuba nezinkinga ezincane. Lokhu kungenxa yokuthi noma singayiqeda ngokuphelele i-galactose ekudleni kwethu, imizimba yethu isakhiqiza inani elincane le-galactose ngokwemvelo. Lokhu kubizwa ngokuthi i-galactose endogenous . Ngakho-ke, izingane ezelashwayo ngezinye izikhathi zingase zibe nalokhu okulandelayo:

• Ukulibaziseka kwenkulumo.
• Ukukhubazeka kokufunda.
• Izinkinga zokuziphatha.
• Izinkinga ngokulinganisela kanye nokuxhumana ( i-ataxia ).
• Ukuthuthumela .
• Ukuntuleka kwama-hormone, ikakhulukazi ukuthomba okubambezelekile kwamantombazane.

I-galactosemia ibathinta kanjani abantu abadala?

Abantu abadala abane-galactosemia bangaphila impilo evamile. Kodwa-ke, labo ababenezimpawu beseyizingane bangase babe nezinkinga ezithile empilweni yabo yonke. Ezinye izimpawu zingaba zincane noma zibe zimbi kakhulu kuye ngokuthi balawula kanjani ukudla kwabo. Kodwa-ke, izinto ezifana nokuntuleka kwama-hormone zivamile, ngisho noma belashwa.

Ngokuvamile, abesifazane abane-galactosemia, noma ngabe lesi sifo sitholakale futhi selashwe kusenesikhathi, bangaba nezinkinga ngama-ovari abo. Lokhu kubizwa ngokuthi ukungasebenzi kahle kwama-ovari okuqala . Lokhu kungenza kube nzima ukukhulelwa nokugcina ukukhulelwa. Ukwelashwa kokufaka esikhundleni sama-hormone kungadingeka futhi ukusiza ukulawula ukuya esikhathini. Lokhu kwelashwa ngama-hormone kungasiza futhi ngezinkinga zokuzala.

Ubani othola lesi sifo? Sivame kangakanani?

I-Galactosemia yisifo esibangelwa izakhi zofuzo . Sitholakala njengefa. Ingane izokhula nalesi simo uma bobabili abazali bezuza isakhi sofuzo esiguquliwe ngenxa yaso. Uma bobabili abazali bakho bengabathwali besakhi sofuzo esiguquliwe, unethuba elingu-25% lokuthuthukisa i-galactosemia. Ingathinta abantu bazo zonke izinhlanga.

Uhlobo olubi kakhulu , olubizwa ngokuthi i-classic galactosemia, aluvamile kangako. Uma sikhuluma nje, luthinta cishe umuntu oyedwa kwabangu-45,000.

Kukhona uhlobo olungelubi kangako olubizwa ngokuthi i-Duarte galactosemia . Luvame kakhulu, luthinta cishe umuntu oyedwa kwabangu-4,000. Akukhona ngempela ukungakwazi ukugaya i-galactose, kodwa kunalokho luwukuzwela kwayo.

Yiziphi izimpawu zomntwana osanda kuzalwa one-galactosemia?

Uma umntwana osanda kuzalwa ene-galactosemia ejwayelekile, uzoqala ukukhombisa izimpawu ezinsukwini ezimbalwa zokuncelisa. Lezi zimpawu zingase zihluke ngezikhathi ezithile:

• Ukudla akunambitheki.
• Ukozela njalo, ukudinwa .
• Ukuhlanza.
• Uhudo.
• Ukwehla kwesisindo okuphawulekayo.
• Ubuthakathaka.
• Ukwehluleka ukuchuma .
• I-jaundice ( i-jaundice ) isho ukuphuzi kwesikhumba.
• Ukuvuvukala kwesibindi.
• Ukuvuvukala kwesisu ( ama-ascites ).
• Ukuvuvukala okuzungeze ubuchopho ( i-edema ).

Uma uhlangabezana nanoma yiziphi zalezi zimpawu, kufanele ubonane nodokotela ngokushesha.Uma udokotela esethole ukuthi lokhu kuyi-galactosemia, lezi zimpawu kufanele ziphele uma i-galactose isisusiwe ekudleni komntwana.

Yini ebangela i-galactosemia?

Isizathu esiyinhloko salokhu ukuguquka kwezakhi zofuzo . Okungukuthi, ushintsho kwezakhi zofuzo. Lokhu kumele kuzuzwe njengefa kumama nakubaba. Bobabili abazali bangaba ngabathwali balesi sakhi sofuzo, kodwa bangase bangakhombisi izimpawu. Ngakho-ke uma ingane inalesi simo, kungaba isimanga esikhulu.

Ngenxa yalesi sakhi sofuzo esishintshile, ama-enzyme adingekayo ukuguqula i-galactose kashukela ibe amandla awakhiqizwa kahle emzimbeni. Ngemuva kwalokho, amakhemikhali enziwe nge-galactose aqoqana emzimbeni. Kunezinhlobo ezintathu ezahlukene zezakhi zofuzo ezihilelekile kulokhu. Ngakho-ke, i-Galactosemia nayo ihlukaniswe ngezinhlobo ezintathu.

Yiziphi izinhlobo ezahlukene ze-Galactosemia?

Uhlobo I (i-Galactosemia Yakudala)

Lolu uhlobo oluvame kakhulu nolunzima lwe-galactosemia. Lubizwa nangokuthi i-galactosemia yakudala. Lubangelwa ukuguquka kwezakhi zofuzo ze-GALT . Lolu fuzo lwenza i-enzyme ephula i-galactose kashukela ibe izinto ezisebenzisekayo njenge-glucose. Kulolu hlobo, i-enzyme cishe ayikho nhlobo. Ngenxa yalokho, umzimba awukwazi ukugaya i-galactose, futhi iqoqana ngokushesha.

Uhlobo II (ukuntuleka kwe-Galactokinase)

Lolu hlobo lwesibili lubangelwa ukuguquka kwezakhi zofuzo ze-GALK1 . Ama-enzyme akhiqizwa yile zakhi zofuzo asiza ekugayweni kwe-galactose. Lolu hlobo lunezinkinga ezimbalwa zempilo kunohlobo lokuqala. Ingozi enkulu ukuthuthukiswa kwe-cataracts.

Uhlobo III (ukuntuleka kwe-Galactose epimerase)

I-GALE gene ihilelekile kulokhu. Lokhu futhi kukhiqiza ama-enzyme asiza ekugayeni i-galactose. Uma la ma-enzyme encishisiwe, i-galactose iyaqongelela emzimbeni. Lolu hlobo lwesithathu ngezinye izikhathi lungabangela izimpawu ezincane, kodwa ngezinye izikhathi lungabangela izimpawu ezinzima. Uma lubi kakhulu, lungabangela i-cataracts, ukubambezeleka kokukhula, ukukhubazeka kwengqondo, isifo sesibindi, nezinkinga zezinso, njengohlobo 1.

I-Duarte galactosemia

Lokhu kubangelwa futhi ukuguquka kwezakhi zofuzo ze-GALT okufanayo okubangela i-galactosemia yakudala. Kodwa-ke, kulokhu, ukuguquka kwezakhi zofuzo akukubi kangako. I-enzyme egaya i-galactose iyancipha ekusebenzeni kwayo, kodwa ayipheleli nhlobo. Abantu abane-Duarte galactosemia bangase babe nokuphazamiseka okuncane kwesisu lapho bedla ukudla okuqukethe i-galactose, kodwa ababi nezinkinga ezinkulu zempilo njengezinye izinhlobo. Akudingeki ukuthi basuse i-galactose ekudleni kwabo.

Itholakala kanjani i-Galactosemia?

Emazweni athuthukile njenge-United States, zonke izingane ezisanda kuzalwa zihlolwa eziningana zalezi zifo. Lezi zivivinyo zingabona lezi zimo ngaphambi kokuba kuvele izimpawu. Lokhu ngezinye izikhathi kubizwa ngokuthi ukuhlolwa kwe-PKU , ngoba kungabona nezinye izifo, njenge -phenylketonuria .

Lokhu kuhlolwa kwenziwa ngokuthatha ithonsi elincane legazi esithendeni somntwana. Lokhu kuvame ukwenziwa cishe emahoreni angama-24 ngemva kokuzalwa komntwana. Uma ingane yakho ine-galactosemia, ukuhlolwa kwegazi kuzobonisa ukuthi umsebenzi we-enzyme ye-GALT uphansi. Ithimba lezokwelapha lizobe selihlola izakhi zofuzo ukuze libone ukuthi ingane inaluphi uhlobo lwe-galactosemia. Ezinye izibhedlela eSri Lanka zinezindawo zokwenza lolu hlobo lokuhlolwa, noma ungabuza udokotela wakho ngakho.

Iphathwa kanjani i-galactosemia?

Ukuphela kokwelashwa kwalokhu ukususa ngokuphelele i-galactose ekudleni . I-Galactose iyingxenye yoshukela obisini olubizwa ngokuthi i-lactose, ngakho-ke ngokuvamile kuyadingeka ukususa cishe yonke imikhiqizo yobisi. Lokhu kusho ukuthi awukwazi ukunikeza ubisi lwebele, ubisi lwenkomo, i-yogurt, noma ushizi. Izingane ezisanda kuzalwa zinganikwa ifomula esekelwe ku-soy noma ifomula ye-elemental eyenziwe ngokukhethekile.

Izingane kanye nabantu abadala abangadli imikhiqizo yobisi bangase babe ne-calcium eningi kanye ne-vitamin D entula. Ngakho-ke, kungadingeka bathathe izithasiselo. Lokhu kusiza ekugcineni amathambo eqinile.

Uhlobo luni lokwelashwa oludingekayo ngemiphumela emibi yesikhathi eside?

Ezinye izingane zingadinga usizo olwengeziwe ukuze zifunde futhi zithuthuke njengoba zikhula. Lokhu kusho ukuthi:

• Ukwelashwa ngenkulumo.
• Ukwelashwa emsebenzini kusho ukusiza ngemisebenzi yansuku zonke.
• Ukwelashwa kokuziphatha .
• Izinhlelo zokufunda eziqondiwe .

Izingane ezincane, ikakhulukazi amantombazane, zingadinga ukwelashwa ngama-hormone ukuze zifinyelele ekuthombeni nasekuyeni esikhathini.

Ingabe i-Galactosemia ingavinjelwa?

Ngenxa yokuthi kuyisimo sofuzo, awukwazi ukulawula ukuthi wena noma ingane yakho nizosithola yini ifa. Kodwa-ke, wena nomlingani wakho ningathola ukuhlolwa kofuzo ukuze kubonakale ukuthi ninayo yini i-mutation ngaphambi kokuba nibe nengane. Ungase ube yithwali, kodwa kungenzeka ungabi nazimpawu. Uma ukwazi lokhu kusenesikhathi, ungahlela ukuthi kungenzeka yini ukuthi izingane zakho zisithole njengefa. Ukwelulekwa ngofuzo kungakusiza ukuthi uqonde kabanzi ngalokhu. Ukutholwa kwalesi simo kusenesikhathi kuyindlela engcono kakhulu yokunciphisa imiphumela emibi engaba khona.

Ingakanani iminyaka yokuphila komuntu one-galactosemia?

Uma lesi sifo sitholakala kusenesikhathi futhi kulandelwa ukudla okungena-galactose, isikhathi sokuphila sivamile. Kodwa-ke, uma kwenzeka umonakalo wezitho zomzimba unomphela esikhathini sokuzalwa, kungathinta impilo yesikhathi eside.

Abantu abadala abaphila ne-galactosemia bazinakekela kanjani?

Into ebaluleke kakhulu kunoma ubani ophila ne-galactosemia ukugcina ukudla okuqinile okungena-galactose . Lokhu kudinga ukuzithiba okukhulu. Abantu abadala abaningi bakuthola kuwusizo ukujoyina imiphakathi lapho abantu abanjengabo bengabelana khona ngezindlela zokupheka kanye nokuhlangenwe nakho. Uma izimpawu ziqhubeka, lolu hlobo lokusekelwa komphakathi lubaluleke kakhulu.

Abantu abadala abane-galactosemia kufanele babonane nodokotela wabo njalo ukuze bahlole izimpawu. Lokhu kuhlolwa kungafaka:

• Ukuhlolwa kwamehlo (ukuhlolwa kwe-cataracts).
• Ukuhlola ukusebenza kwesimiso sezinzwa (izinto ezifana nokusebenza kahle, ukungakwazi ukunaka/ ukuphazamiseka kokusebenza ngokweqile (ADHD) , ukuthuthumela, kanye ne-ataxia ).
• Ukuhlolwa kokuqina kwamathambo (ukuthola ukuntuleka kwe-calcium namaminerali).
• Ukuhlola amazinga ama-hormone (ikakhulukazi kwabesifazane).

Ngokwenza ukuhlolwa okuvamile okufana nalokhu, noma yikuphi ukushiyeka kungabonakala kusenesikhathi futhi kwelashwe ngaphambi kokuba kube kubi kakhulu.

Nakuba i-galactosemia iyisifo esingavamile, ingatholakala kusenesikhathi ngokuhlolwa kofuzo. Uma ukhulelwe noma uhlela ukuba nomntwana, wena nomlingani wakho ningahlolwa i-galactosemia. Uma nobabili ninayo i-gene, kunethuba elingu-25% lokuthi ingane yakho izoyihlakulela. Ukuqwashisa kungamandla amakhulu. Lokhu kungakusiza ukuthi uhlele kusenesikhathi ukuze ugweme izimo ezimbi kakhulu zalesi sifo.

Uma ingane yakho esanda kuzalwa itholakale inalesi simo, ungase uzizwe unemizwa eminingi (ukushaqeka, ukudideka). I-Galactosemia ivame ukungalindelekile, ikakhulukazi uma kungekho mlando womndeni walesi simo. Ngenxa yokuthi ayivamile, ngezinye izikhathi ingahlolwa kancane ngisho naphakathi kodokotela. Kodwa-ke, ngokutholwa kusenesikhathi, imiphumela emibi kakhulu ye-galactosemia ingavinjelwa.

Ngokuphathwa kahle kokudla, ingane yakho ingaphila impilo evamile. Kungase kuvele izinkinga ezithile zokukhula, ezingadinga ukwelashwa okwengeziwe. Lezi zinselele ezingalindelekile zingavela kubazali ngezizathu ezahlukahlukene. Kodwa-ke, ngokuqaphela isimo esinjalo, unethuba lokukwazi ukulungiselela lezo zinselele kusenesikhathi, uzibone kusenesikhathi, futhi ungenelele kusenesikhathi ukuze ufinyelele umphumela omuhle kakhulu.

Izinto ezibaluleke kakhulu okufanele uzikhumbule kulesi sihloko (Umyalezo Wokuya Ekhaya)

Kulungile, manje njengoba sesixoxe ngeGalactosemia, ngithemba ukuthi usunokuqonda okungcono. Nazi izinto ezibalulekile okufanele uzikhumbule:

• Ukutholwa kusenesikhathi kusindisa impilo: Ukuhlolwa kwezinsana kungakubona kusenesikhathi lokhu, okungavimbela izinkinga eziningi ezinkulu.
• Ukulawula ukudla kubalulekile: Ukudla okungena-galactose (ikakhulukazi okungena-lactose) kufanele kulandelwe impilo yonke.
• Ukwelulekwa ngofuzo kubalulekile: Ngokwenza ukuhlolwa kofuzo ngaphambi kokuqala umndeni, abazali bangaqaphela ingozi yokuthi ingane ithole lesi sifo njengefa.
• Ukusekelwa kwesikhathi eside: Ukukhula kwengane, ukufunda kwayo, kanye nempilo yayo yonke kufanele kuqashwe njalo. Ukusekelwa kokwelashwa kufanele kuhlinzekwe uma kudingeka. Ukuhlolwa njalo kwezokwelapha kanye nokusekelwa okuvela emaqenjini okusekela nakho kubalulekile kubantu abadala.
• Awuwedwa: Ukubhekana nalesi simo kungaba nzima. Kodwa-ke, ngokusekelwa odokotela, ochwepheshe bezokudla, abelaphi, kanye nabathandekayo, lolu hambo lungafezwa.

Ungakhathazeki, ngokuqwashisa nangezinyathelo ezifanele, ingane nomuntu omdala one-galactosemia bangaphila impilo enhle.

I- Galactosemia, i-Galactosemia, izinsana ezisanda kuzalwa, izifo zofuzo, ama-enzyme, izifo ze-metabolic, ukudla, ukuhlolwa kwezinsana ezisanda kuzalwa, ukuphazamiseka kofuzo