Ingaba umntwana wakho unengxaki yokugaya iswekile yobisi? Masithethe ngeGalactosemia!

Xa utyisa umntwana osandul’ ukuzalwa, nokuba lubisi lwebele okanye ubisi lwefomyula, ngamanye amaxesha kuvela iingxaki ezincinci, akunjalo? Khawucinge, kuthekani ukuba umntwana wakho akanako ukugaya uhlobo oluthile lweswekile ebisini? Ewe, inokwenzeka. I-Galactosemia kukungakwazi ukugaya uhlobo lweswekile ebisini olubizwa ngokuba yi-'galactose'. Le inokuba yimeko enzima, kodwa ukuba ibonwa kwangethuba, singanciphisa iingxaki ezininzi ezinkulu umntwana anokuba nazo.

Le meko iwuchaphazela njani umzimba womntwana?

Ngamafutshane, xa umzimba womntwana wakho ungakwazi ukuqhekeza iswekile yegalactose efumaneka ekutyeni, ingakumbi ubisi, uze uyiguqule ibe ngamandla, iqala ukuqokelelana egazini. Enyanisweni, igama elithi 'galactosemia' lithetha "ubukho begalactose egazini." Ngoko ke xa igalactose iqokelelana egazini, isasazeka emzimbeni wonke. Emva koko, i-enzyme engasebenzi rhoqo negalactose iguqula le galactose ibe yi-alcohol ebizwa ngokuba yi-'galactitol.' Le galactitol inetyhefu emzimbeni.

Xa le galactitol inetyhefu iqokelelana kwizitho zomzimba zomntwana kunye nezicubu zakhe, iqala ukumenzakalisa. Ukuba ayinyangwa, i-galactosemia inokubangela iziphumo ebezingalindelekanga ezinje ngezi:

• IiCataracts .
• Ukulibaziseka kophuhliso .
• Ukukhubazeka kwengqondo .
• Ubunzima bokuthetha .
• Ubunzima bokuhamba kakuhle kwemisipha, nto leyo ethetha ubunzima ngezakhono zokunyakaza kakuhle , njengokuhamba nokubaleka.
• Ukuphazamiseka kwemithambo-luvo .
• Isifo sezintso .
• Ukungasebenzi kakuhle kwama-ovari kwangethuba kubantwana abangabasetyhini.
• Ukungasebenzi kakuhle kwesibindi .
• I-Sepsis sisifo esibi kakhulu.

Khawuthelekelele indlela ekubaluleke ngayo ukuqaphela le meko kwangethuba! Ukuba uyiqaphela kwangethuba, uyisuse i-galactose ekutyeni komntwana wakho, kwaye uyinyange ngokufanelekileyo, unokuthintela uninzi lwezi ngxaki.

Nangona kunjalo, nokuba kufunyenwe kwaye kunyangwa kwangoko, abanye abantwana banokuqhubeka beneengxaki ezincinci. Oku kungenxa yokuba nokuba singayisusa ngokupheleleyo i-galactose ekutyeni kwethu, imizimba yethu isavelisa inani elincinci le-galactose ngokwendalo. Oku kubizwa ngokuba yi -galactose endogenous . Ke ngoko, abantwana abanyangwayo ngamanye amaxesha banokuba nezi zinto zilandelayo:

• Ukulibaziseka kokuthetha.
• Ukukhubazeka kokufunda.
• Iingxaki zokuziphatha.
• Iingxaki zokulinganisela kunye nokulungelelanisa ( i-ataxia ).
• Iingxolo .
• Ukunqongophala kwamahomoni, ingakumbi ukufikisa okulibazisekileyo kumantombazana.

I-galactosemia ibachaphazela njani abantu abadala?

Abantu abadala abane-galactosemia banokuphila ubomi obuqhelekileyo. Nangona kunjalo, abo babeneempawu besebancinci banokuba neengxaki ebomini babo bonke. Ezinye iimpawu zinokuba zincinci okanye zibe zimbi ngakumbi kuxhomekeke kwindlela abalawula ngayo ukutya kwabo. Nangona kunjalo, izinto ezifana nokungabikho kwamahomoni ziqhelekile, nokuba kunyango.

Amaxesha amaninzi, abafazi abane-galactosemia, nokuba isifo sifunyenwe kwaye sinyangwa kwangethuba, banokuba neengxaki ngama-ovari abo. Oku kubizwa ngokuba yi -primary ovarian insufficiency . Oku kunokwenza kube nzima ukukhulelwa nokugcina ukukhulelwa. Unyango lokutshintshwa kwama-hormone lunokufuneka ukunceda ukulawula ukuya exesheni. Olu nyango lwama-hormone lunokunceda nakwiingxaki zokuzala.

Ngubani ofumana esi sifo? Sixhaphake kangakanani?

I-Galactosemia sisifo semfuza . Sifunyanwa njengelifa. Umntwana uya kuba nale meko ukuba bobabini abazali bazuza i-gene eguquliweyo ngenxa yayo. Ukuba bobabini abazali bakho bangabathwali be-gene eguquliweyo, unethuba lama-25% lokufumana i-galactosemia. Ingachaphazela abantu bazo zonke iintlanga.

Olona hlobo lubi kakhulu , olubizwa ngokuba yi-classic galactosemia, aluxhaphakanga kangako. Xa sithetha nje, luchaphazela umntu omnye kwabangama-45,000.

Kukho uhlobo olungelubi kangako olubizwa ngokuba yiDuarte galactosemia . Luqheleke ngakumbi, luchaphazela malunga nomntu omnye kwabayi-4,000. Asikuko ukungakwazi ukugaya i-galactose, kodwa kubangelwa kukungakwazi kwayo ukugaya.

Zithini iimpawu zomntwana osandul’ ukuzalwa one-galactosemia?

Ukuba usana olusandul’ ukuzalwa lune-galactosemia eqhelekileyo, luza kuqala ukubonisa iimpawu kwiintsuku ezimbalwa emva kokuncancisa. Ezi mpawu zingahluka ngamaxesha athile:

• Ukutya akunancasa.
• Ukozela rhoqo, ukudinwa .
• Ukuhlanza.
• Urhudo.
• Ukunciphisa umzimba okubalulekileyo.
• Ubuthathaka.
• Ukungaphumeleli ukukhula .
• I-Jaundice ( i-jaundice ) ithetha ukutyheli kolusu.
• Ukudumba kwesibindi.
• Ukudumba kwesisu ( i-ascites ).
• Ukudumba okujikeleze ingqondo ( ukudumba ).

Ukuba ufumana naziphi na kwezi mpawu, kufuneka ubone ugqirha ngokukhawuleza.Xa ugqirha efumanise ukuba oku yi-galactosemia, ezi mpawu kufuneka ziphele xa i-galactose isusiwe ekutyeni komntwana.

Yintoni ebangela i-galactosemia?

Eyona sizathu siphambili soku kukuguquka kwezakhi zofuzo . Oko kukuthi, utshintsho kwiizakhi zofuzo. Oku kufuneka kuzuzwe njengelifa kumama nakutata. Bobabini abazali banokuba ngabathwali bale zakhi zofuzo, kodwa basenokungabonakalisi zimpawu. Ngoko ke xa umntwana enale meko, kunokuba yinto emangalisayo.

Ngenxa yolu tshintsho lwejini, ii-enzymes ezifunekayo ukuguqula i-galactose yeswekile ibe ngamandla aziveliswa kakuhle emzimbeni. Emva koko, iikhemikhali ezenziwe nge-galactose ziyaqokelelana emzimbeni. Kukho iintlobo ezintathu ezahlukeneyo zejini ezibandakanyekayo koku. Ngokunjalo, iGalactosemia nayo yahlulwe yaba ziintlobo ezintathu.

Ziziphi iintlobo ezahlukeneyo zeGalactosemia?

Uhlobo I (iGalactosemia yeKlasi)

Olu lolona hlobo luqhelekileyo nolunzima lwe-galactosemia. Ikwabizwa ngokuba yi-classic galactosemia. Ibangelwa kukuguquka kwe-GALT gene . Le gene yenza i-enzyme eqhekeza i-sugar galactose ibe zizinto ezisetyenziswayo njenge-glucose. Kolu hlobo, i-enzyme ayifumaneki kwaphela. Ngenxa yoko, umzimba awukwazi ukugaya i-galactose, kwaye iqokelelana ngokukhawuleza.

Uhlobo lwesibini (ukungabikho kweGalactokinase)

Olu hlobo lwesibini lubangelwa kukuguquka kwejini ye-GALK1 . Ii-enzymes eziveliswa yile jini zinceda ekugayweni kwe-galactose. Olu hlobo luneengxaki ezimbalwa zempilo kunezokuqala. Umngcipheko ophambili kukukhula kwe-cataracts.

Uhlobo lwesithathu (ukungabikho kweGalactose epimerase)

I-GALE gene ibandakanyeka koku. Oku kukwavelisa ii-enzymes ezinceda ekugayeni i-galactose. Ukuba ezi enzymes ziyancipha, i-galactose iqokelelana emzimbeni. Olu hlobo lwesithathu ngamanye amaxesha lunokubangela iimpawu ezingephi, kodwa ngamanye amaxesha lunokubangela iimpawu ezinzulu. Ukuba lunzima, lunokubangela i-cataracts, ukulibaziseka kokukhula, ukukhubazeka kwengqondo, isifo sesibindi, kunye neengxaki zezintso, njengohlobo 1.

I-Duarte galactosemia

Oku kukwabangelwa kukuguquka kwejini efanayo ye-GALT ebangela i-galactosemia yakudala. Nangona kunjalo, kule meko, utshintsho lwejini alukho nzima kangako. I-enzyme egaya i-galactose iyancipha ekusebenzeni kwayo, kodwa ayipheleli apho. Abantu abane-Duarte galactosemia banokuchaphazeleka kancinci sisisu xa besitya ukutya okune-galactose, kodwa abanazo iingxaki ezinkulu zempilo njengezinye iintlobo. Akunyanzelekanga ukuba bayisuse i-galactose ekutyeni kwabo.

Ifunyanwa njani iGalactosemia?

Kumazwe aphuhlileyo afana ne-United States, usana ngalunye olusandul’ ukuzalwa luhlolwa ezinye zezi zifo. Olu vavanyo lunokufumanisa ezi meko ngaphambi kokuba kuvele iimpawu. Oku ngamanye amaxesha kubizwa ngokuba luvavanyo lwe-PKU , kuba lunokufumanisa nezinye izifo, ezifana ne -phenylketonuria .

Olu vavanyo lwenziwa ngokuthatha ithontsi elincinci legazi esithendeni somntwana. Oku kudla ngokwenziwa malunga neeyure ezingama-24 emva kokuba umntwana ezelwe. Ukuba umntwana wakho une-galactosemia, uvavanyo lwegazi luya kubonisa ukuba umsebenzi we-enzyme ye-GALT uphantsi. Iqela lezonyango liya kuthi emva koko lenze uvavanyo lwemfuza ukuze libone ukuba loluphi uhlobo lwe-galactosemia umntwana analo. Ezinye izibhedlele eSri Lanka zinezibonelelo zokwenza olu hlobo lovavanyo, okanye ungabuza ugqirha wakho ngalo.

Inyangwa njani i-galactosemia?

Unyango olulodwa loku kukususa ngokupheleleyo i-galactose ekutyeni . I-Galactose yinxalenye yeswekile esebisini ebizwa ngokuba yi-lactose, ngoko ke kudla ngokuba yimfuneko ukususa phantse zonke iimveliso zobisi. Oku kuthetha ukuba awunakunika ubisi lwebele, ubisi lwenkomo, iyogathi, okanye itshizi. Iintsana ezisandul’ ukuzalwa zinokunikwa ifomula esekelwe kwisoya okanye ifomula eyenzelwe ngokukodwa.

Abantwana kunye nabantu abadala abangazityiyo iimveliso zobisi banokunqongophala kwe-calcium kunye ne-vitamin D. Ngenxa yoko, banokufuna ukuthatha izongezo zokutya. Oku kunceda ukugcina amathambo eqinile.

Luhlobo luni lonyango olufunekayo kwimiphumo emibi yexesha elide?

Abanye abantwana banokufuna uncedo olongezelelweyo lokufunda nokukhula njengoko bekhula. Oku kuthetha ukuba:

• Unyango lokuthetha.
• Unyango lomsebenzi luthetha ukunceda ngemisebenzi yemihla ngemihla.
• Unyango lokuziphatha .
• Izicwangciso zokufunda ezijolise kuzo .

Abantwana abancinci, ingakumbi amantombazana, banokufuna unyango lweehomoni ukuze babancede bafikelele kwinqanaba lokufikisa nokuya exesheni.

Ngaba iGalactosemia ingathintelwa?

Ngenxa yokuba yimeko yemfuza, awunakulawula ukuba wena okanye umntwana wakho uza kuyizuza na. Nangona kunjalo, wena kunye neqabane lakho ninokufumana uvavanyo lwemfuza ukuze kubonwe ukuba ninayo na inguqu ngaphambi kokuba nibe nomntwana. Usenokuba nguthwali, kodwa usenokungabi nazimpawu. Ukuba ukwazi oku kwangethuba, ungacwangcisa amathuba okuba abantwana bakho bayizuze njengelifa. Ingcebiso yemfuza inokukunceda uqonde ngakumbi ngale nto. Ukufumanisa kwangoko le meko yeyona ndlela ilungileyo yokunciphisa iziphumo ezingalunganga ezinokubakho.

Ingakanani iminyaka yobomi bomntu one-galactosemia?

Ukuba isifo sifunyenwe kwangethuba kwaye kulandelwa ukutya okungena-galactose, ixesha lokuphila liqhelekile. Nangona kunjalo, ukuba kwenzeka umonakalo osisigxina kwizitho zomzimba ngexesha losana olusandul’ ukuzalwa, oko kunokuchaphazela impilo yexesha elide.

Abantu abadala abaphila ne-galactosemia bazinyamekela njani?

Eyona nto ibalulekileyo kuye nabani na ophila ne-galactosemia kukugcina ukutya okungqongqo okungena-galactose . Oku kufuna ukuzibamba okukhulu. Abantu abadala abaninzi bakufumanisa kuluncedo ukujoyina uluntu apho abantu abafana nabo banokwabelana ngeendlela zokupheka namava. Ukuba iimpawu ziyaqhubeka, olu hlobo lwenkxaso yoluntu lubaluleke kakhulu.

Abantu abadala abane-galactosemia kufuneka babonane nogqirha wabo rhoqo ukuze bajonge iimpawu. Olu vavanyo lungabandakanya:

• Ukuhlolwa kwamehlo (ukuba kukho i-cataracts).
• Ukuvavanya ukusebenza kwenkqubo yemithambo-luvo (kwizinto ezifana nokusebenza kwamandla, ukungakwazi ukunikel’ ingqalelo/ ukuphazamiseka kokusebenza kakhulu (ADHD) , ukungcangcazela, kunye ne -ataxia ).
• Uvavanyo loxinano lwamathambo (ukujonga ukungabikho kwe-calcium kunye neeminerali).
• Ukujonga amanqanaba eehomoni (ingakumbi kubasetyhini).

Ngokwenza uhlolo olufana nolu rhoqo, naziphi na iziphene zinokubonwa kwangethuba kwaye zinyangwe ngaphambi kokuba zibe nzima.

Nangona i-galactosemia sisifo esingaqhelekanga, inokubonwa kwangethuba ngovavanyo lwemfuza. Ukuba ukhulelwe okanye uceba ukuba nomntwana, wena neqabane lakho ninokuvavanywa i-galactosemia kwijini. Ukuba nobabini ninayo ijini, kukho amathuba angama-25% okuba umntwana wakho ayikhulele. Ukuqonda ngamandla amakhulu. Oku kunokukunceda ucwangcise kwangaphambili ukuze uphephe iimeko ezimbi zesi sifo.

Ukuba umntwana wakho osandul’ ukuzalwa ufunyenwe enale meko, usenokuba uziva iimvakalelo ezininzi (ukothuka, ukudideka). I-Galactosemia idla ngokungalindelekanga, ingakumbi ukuba akukho mbali yentsapho yale meko. Ngenxa yokuba ayiqhelekanga, ngamanye amaxesha inokungafumaneki kakuhle kwanaphakathi koogqirha. Nangona kunjalo, xa ifunyanwa kwangethuba, iziphumo ezibi kakhulu ze-galactosemia zinokuthintelwa.

Ngolawulo olufanelekileyo lokutya, umntwana wakho unokuphila ubomi obuqhelekileyo. Kusenokuvela iingxaki ezithile zokukhula, ezinokufuna unyango olongezelelweyo. Ezi ngxaki zingalindelekanga zinokuvela kubazali ngezizathu ezahlukeneyo. Nangona kunjalo, ngokuqaphela imeko enjalo, unethuba lokukwazi ukulungiselela ezo ngxaki kwangaphambili, uziqaphele kwangethuba, kwaye ungenelele kwangethuba ukuze ufumane iziphumo ezilungileyo.

Izinto ezibalulekileyo ekufuneka uzikhumbule kweli nqaku (Umyalezo Wokuya Ekhaya)

Kulungile, ngoku ekubeni sigubungele iGalactosemia, ndiyathemba ukuba uyaqonda ngcono. Nazi izinto ezibalulekileyo ekufuneka uzikhumbule:

• Ukufunyanwa kwangoko kusindisa ubomi: Ukuhlolwa kweentsana ezisandul’ ukuzalwa kunokukubona oku kwangoko, nto leyo enokuthintela iingxaki ezininzi ezinzulu.
• Ulawulo lokutya kubalulekile: Ukutya okungena-galactose (ingakumbi okungena-lactose) kufuneka kulandelwe ubomi bonke.
• Ingcebiso ngemfuza ibalulekile: Ngokwenza uvavanyo lwemfuza ngaphambi kokuba kuqalwe usapho, abazali banokuqonda umngcipheko wokuba umntwana afumane esi sifo njengelifa.
• Inkxaso yexesha elide: Ukukhula komntwana, ukufunda kwakhe, kunye nempilo yakhe iyonke kufuneka kujongwe rhoqo. Inkxaso yonyango kufuneka inikwe ukuba kuyimfuneko. Ukuhlolwa rhoqo kwezonyango kunye nenkxaso evela kumaqela enkxaso nako kubalulekile kubantu abadala.
• Awuwedwa: Ukujongana nale meko kunokuba nzima. Nangona kunjalo, ngoncedo loogqirha, iingcali zezondlo, iingcali zonyango kunye nabantu obathandayo, olu hambo lunokuphunyezwa.

Ungakhathazeki, ngokwazi nangokuthatha amanyathelo afanelekileyo, umntwana nomntu omdala abane-galactosemia banokuphila ubomi obumnandi.

I- Galactosemia, i-Galactosemia, iintsana ezisandul' ukuzalwa, izifo zemfuza, ii-enzymes, izifo ze-metabolic, ukutya, ukuhlolwa kweentsana ezisandul' ukuzalwa, ukuphazamiseka kwemfuza