Ingabe ingane yakho iyahlanza uma uyipha ubisi? Ingabe kungaba yiGalactosemia?

Kuwusuku olujabulisayo kakhulu lapho umntwana osanda kuzalwa ebuya ekhaya. Injabulo enkulu kumama ukuncelisa umntwana wakhe. Ngoba siyazi ukuthi ubisi lwebele luwukudla okungcono kakhulu komntwana. Lunikeza zonke izakhamzimba ezidingwa umntwana, kanye nezinto eziningi ezifana nama-antibodies ayivikela ezifweni. Kodwa cabanga, ngemva kokuncelisa umntwana wakho, ezinsukwini ezimbalwa umntwana akakwazi ukuphuza ubisi, aqhubeke nokuhlanza, aphenduke aphuzi, bese efa. Ebona into efana nale, noma yimuphi umama noma ubaba uyesaba kakhulu. Ngezinye izikhathi imbangela yalokhu isifo esingavamile abantu abaningi abangakaze bezwe ngaso. Namuhla sikhuluma ngesinye isimo esinjalo, i-Galactosemia.

Kalula nje, iyini i-Galactosemia?

Kalula nje, i-Galactosemia yisimo esingavamile, esizalwa naso esihlobene nezinqubo zomzimba wethu zokugaya ukudla. Izingane ezinalesi simo azikwazi ukuguqula i-galactose, uhlobo loshukela olutholakala ebisini eziluphuzayo, lube amandla, okusho ukuthi azikwazi ukulugaya.

Manje ungase uzibuze ukuthi iyini le galactose. Ubisi esiluphuzayo, okungukuthi, ubisi lwebele nobisi oluyimpuphu, luqukethe uhlobo lukashukela olubizwa nge-lactose. Le molekyuli ebizwa nge-lactose yakhiwe ngamanye ushukela amabili alula abizwa nge-glucose ne-galactose. Ama-enzyme emzimbeni womntwana onempilo ayaphula le lactose futhi aguqule ingxenye ye-galactose ibe amandla.

Kodwa-ke, enganeni ene-Galactosemia, i-enzyme eguqula i-galactose ibe amandla ayisebenzi kahle, noma ayikhiqizwa nhlobo . Kufana nomshini osefektri obhidlikayo. Ngemuva kwalokho, i-galactose engagayiwe iqoqana egazini lomntwana. I-galactose eqoqana ngale ndlela inobuthi kakhulu enganeni esanda kuzalwa. Uma ingelashwa, ingaba yingozi ngisho nakumntwana.

Yini ebangela lesi sifo?

I-Galactosemia yisifo esizuzwa njengefa . Lokhu kusho ukuthi idluliselwa enganeni ngezakhi zofuzo. Ukuze umntwana abe nalesi sifo, umntwana kumele athole izakhi zofuzo ezinephutha ezivela kumama nakubaba.

Uma umzali oyedwa kuphela ophethe isakhi sofuzo esinephutha, ubizwa ngokuthi umthwali. Abathwali ngokuvamile ababonisi izimpawu. Kodwa-ke, lapho abathwali ababili behlangana, kunethuba lokuthi ingane yabo izobe inesifo.

Kunezinhlobo ezintathu eziyinhloko ze-galactosemia.

Ingabe ingane yakho nayo inalezi zimpawu?

Ingane ene-Classic Galactosemia (Uhlobo I) ibonakala iphilile ngokuphelele ekuzalweni. Izimpawu ziqala ukuvela ezinsukwini ezimbalwa ngemva kokuba ingane iqale ukuphuza ubisi lwebele noma ifomula equkethe i-lactose.

Izimpawu ezibonakala ezigabeni zokuqala

• Ukungafuni ukuphuza ubisi nokungaluceli.
• Ukuhlanza okuqhubekayo ngemva kokuphuza ubisi noma ngokushesha ngemva kwalokho.
• Ukuphuzi kwesikhumba kanye nokumhlophe kwamehlo (i-Jaundice) .
• Uhudo .
• Ukwehluleka ukukhula kahle kanye nokukhula kabi kwengane.
• Ingane ihlala ilele futhi ingaphili.

Imiphumela yesikhathi eside uma ingelashwa

Uma lesi sifo singatholakali futhi singalashwa kusenesikhathi, i-galactose eqongeleleka egazini izoqala ukulimaza izitho ezahlukene emzimbeni womntwana.

• Ama-cataract .
• Ukwenzeka njalo kwezifo ezinzima.
• Ukulimala kwesibindi kanye nokukhula kwesibindi.
• Ukulimala kwezinso .
• Ukulimala kokukhula kobuchopho , okuholela ekukhubazekeni kokukhula okufana nokukhubazeka kokufunda.
• Ezinye izingane zingase zibe nezinkinga ngamakhono okunyakaza komzimba njengokuhamba nokusebenzisa izandla zazo.
• Uma kwenzeka ingane yesifazane, ukwehluleka kwesibeletho kungenzeka ngemva kokuthomba. Ngenxa yalokho, bavame ukulahlekelwa ikhono lokuthola abantwana.

Lokhu kutholakala futhi kwelashwa kanjani?

Ngenhlanhla, kunezivivinyo ezingabona lesi sifo. Kwamanye amazwe, zonke izingane ezisanda kuzalwa zihlolwa izifo eziningana ezingavamile esibhedlela. Lokhu kwenziwa kusetshenziswa isampula encane yegazi ethathwe esithendeni somntwana (ukuhlolwa kwenduku yesithende).

Uma ingane yakho inezimpawu ezishiwo ngenhla, udokotela wakho uzosola ukuthi ikhona yini bese eyala ukuhlolwa kwegazi nomchamo okukhethekile ukuze kuqinisekiswe.

Iyiphi indlela yokwelapha uma lesi sifo siqinisekisiwe?

Ukwelashwa okuyinhloko kwe-galactosemia ukususa ngokuphelele i-lactose ne-galactose ekudleni komntwana.

• Lokho kusho ukuthi awukwazi ukunika ingane yakho ubisi lwebele . Futhi awukwazi ukunikeza ubisi olujwayelekile .
• Kunalokho, kufanele kunikezwe amafomula akhethekile asekelwe kusoya anconywe udokotela.
• Uma umntwana esekhulile kancane, izinto ezifana nobisi nemikhiqizo yobisi (iyogathi, ushizi, ibhotela) azikwazi ukungezwa ekudleni.
• Njengoba ezinye izithelo, imifino, namaswidi kungase kube nenani elincane le-galactose, kufanele ukhulume nodokotela wakho kanye nochwepheshe wezokudla ukuze uthole ukuthi yikuphi ukudla okuphephile.
• Njengoba ubisi lususwa ngokuphelele ekudleni, udokotela utusa ukuthi umntwana anikwe i-calcium edingekayo, i-vitamin D, kanye ne-vitamin K ngendlela yezithako zokudla.

I-Duarte galactosemia (DG) nezinye izinhlobo

I-Duarte Galactosemia (DG) iyisimo esithambile, esingesibi kakhulu kune-Classic Galactosemia. Izingane ezinalesi simo zinobunzima bokugaya i-galactose, kodwa zingase zingadingi ukudla okuqinile. Ezinye izingane zingaqhubeka nokuncelisa. Kodwa-ke, lesi sinqumo kufanele senziwe udokotela wakho kuphela.

Izingane ezinezinhlobo ze-II kanye neze-III nazo zinezinkinga ezimbalwa kunezo ezinezinhlobo ze-classic. Kodwa-ke, kusenengozi yokuthola izinto ezifana ne-cataracts, izinkinga zezinso kanye nesibindi.