Ingabe ingane yakho ihlala ikhathele? Ingabe inoshukela ophansi egazini? Lokhu kungabangwa yiGlycogen Storage Disease (GSD)

Ingabe ingane yakho encane ihlala izizwa ikhathele futhi ikhathele? Ingabe ingane yakho ima kancane eceleni lapho abanye abantwana abangontanga efanayo begijima bedlala? Noma ingabe ingane yakho iphenduka umbala okhanyayo, ijuluke, futhi iqhaqhazele ngesikhathi sokudla? Njengomzali, kuvamile ukuthi uzizwe wesaba kakhulu uma ubona lezi zinto. Nakuba kungaba nezizathu eziningi zezimpawu ezinjalo, namuhla sizokhuluma ngesimo esingavamile kodwa esibaluleke kakhulu esibangela izimpawu ezinjalo. Leso yisifo se-Glycogen Storage, noma (GSD) ngamafuphi.

Kalula nje, siyini isifo sokugcina i-Glycogen (GSD)?

Kulungile, ake sikuqonde lokhu kalula. Cabanga ukuthi umzimba wethu ufana nemoto. Imoto idinga uphethiloli ukuze isebenze. Ngokufanayo, umzimba wethu udinga amandla okwenza zonke lezi zinto, ukugijima, ukugxuma, ukucabanga, nokuthandaza. Umthombo oyinhloko wamandla emzimbeni wethu yi -glucose , okuyishukela nje. Sithola le glucose ekudleni kwama-carbohydrate esikudlayo, njengelayisi, isinkwa, namazambane.

Manje, uma sidla, imizimba yethu ithola ushukela omningi kunalokho ekudingayo ukuze ibe namandla ngaleso sikhathi. Ngakho-ke umzimba wethu ohlakaniphile wenzani? Ugcina lowo shukela owengeziwe ukuze usetshenziswe kamuva. Kufana nokugcina ibhange lamandla lishajwa efonini yethu. Le ndlela yokugcina ushukela ibizwa ngokuthi i-glycogen . Le glycogen igcinwa kakhulu esibindini nasemisipheni yethu.

Uma singadli, noma lapho sisebenzisa amandla amaningi, njengalapho sivivinya umzimba, umzimba wethu uguqula leyo glycogen egciniwe ibe yi-glucose bese uyisebenzisa njengamandla.

Nansi yonke le nqubo, okungukuthi, ukuguqula i-glucose ibe yi-glycogen kanye ne-glycogen iphinde ibe yi-glucose, umzimba wethu udinga uhlobo olukhethekile lweprotheni. Siwabiza ngokuthi ama-enzyme . Kufana nokuba nezisebenzi ezisebenza efektri.

Isifo Sokugcina I-Glycogen (GSD) yisimo esenzeka lapho enye noma ngaphezulu yalezi enzyme ingekho noma ingasebenzi kahle emzimbeni wethu. Lokhu kusho ukuthi umzimba awukwazi ukugcina i-glycogen kahle noma ukusebenzisa i-glycogen egciniwe uma kudingeka. Lokhu kungaholela ezinkingeni ezifana namazinga kashukela egazini aphansi kakhulu (hypoglycemia) kanye nobuthakathaka bemisipha.

Zingaki izinhlobo ze-GSD ezikhona?

Yebo. Njengoba sixoxile ngaphambili, kunezinhlobo eziningi zama-enzyme ahilelekile ekugayweni kwe-glycogen. Ngakho-ke, kunezinhlobo eziningi ze-GSD kuye ngokuntuleka kwalawo ma-enzyme. Kunezinhlobo ezingaphezu kuka-19 eziye zatholakala kuze kube manje. Nakuba singazi okuningi ngazo zonke, siyaqonda kahle ezinye zezinhlobo eziyinhloko.

Lezi zinhlobo ze-GSD zithinta kakhulu isibindi noma imisipha.Kodwa ezinye izinhlobo zingadala izinkinga nakwezinye izingxenye zomzimba. Odokotela babiza lezi zinhlobo ngegama le-enzyme ehilelekile noma usosayensi owathola lesi sifo kuqala. Kulezi, ezivame kakhulu yi-GSD type I (GSD type I), eyaziwa nangokuthi yi-von Gierke disease.

Yiziphi izimpawu eziyinhloko ze-GSD? Sizibona kanjani?

Izimpawu ze-GSD zingahluka kuye ngohlobo lwesifo ngisho naphakathi kwabantu abanohlobo olufanayo. Uhlobo oluvame kakhulu lwe-GSD, uhlobo I, luvame ukuqala ukuvela lapho umntwana enezinyanga ezintathu kuya kwezine ubudala . Kodwa-ke, ezinye izinhlobo zingavela nezimpawu kamuva kakhulu, ngezinye izikhathi ngisho nasebudaleni.

Izimpawu ezimbili eziyinhloko nezivame kakhulu yilezi:

1. Amazinga kashukela aphansi egazini (hypoglycemia)

2. Ukukhathala kalula ngenkathi uzivocavoca noma udlala (ukungabekezeleli ukuzivocavoca)

Ake sibheke lezi zimpawu ngemininingwane ethe xaxa.

Kungani i-GSD ikhula? Ingabe isifo esidluliselwa ngofuzo?

Yebo, i-GSD iyisifo esizuzwa njengefa ngokuphelele. Lokhu kusho ukuthi lesi sifo sibangelwa izinguquko ezakhiweni zofuzo ezizuzwa njengefa kubazali ezinganeni.

Iningi lama-GSD lizuzwa njengefa ngendlela yokubuyisana kwe-autosomal . Kalula nje, lokhu kusho ukuthi ukuze ingane ibe nalesi sifo, bobabili abazali kumele bazuze ifa lesakhi sofuzo esiguquliwe salesi sifo. Uma isakhi sofuzo sizuzwe kumzali oyedwa kuphela, ingane izoba ngumthwali futhi ngeke ibonise izimpawu.

Kodwa-ke, izinhlobo ezimbalwa ezingavamile kakhulu, njenge-GSD type IX, zizuzwa njengefa elibizwa ngokuthi i-X-linked inheritance . Lokhu kusho ukuthi i-gene yesifo ikwi-chromosome X. Uma umfana ezuza le gene, nakanjani uzoba nezimpawu.

Udokotela usithola kanjani lesi sifo ngqo?

Ngenxa yokuthi i-GSD iyisimo esingavamile, kungathatha isikhathi ukuyixilonga. Udokotela kuzodingeka aqale aqinisekise ukuthi azikho ezinye izimo ezivamile. Ngemva kokubuza ngezimpawu zengane yakho nokuhlola ingane yakho, udokotela uvame ukuncoma ukuhlolwa okuningana.

Lokhu kungafaka:

• Ukuhlolwa kukashukela egazini lokuzila ukudla: Ukuhlola amazinga kashukela egazini ngaphambi kokudla kwasekuseni. Uma amazinga kashukela ephansi kakhulu, kungaba uphawu lwe-GSD.
• Ukuhlolwa kwegazi le-Ketone: Uma umzimba ungakwazi ukusebenzisa i-glucose ukuze uthole amandla, ushisa amafutha ukuze uthole amandla. Ngaleso sikhathi, kukhiqizwa amakhemikhali abizwa ngokuthi ama-ketone. Amazinga e-Ketone egazini angase akhuphuke ezinganeni ezine-GSD.
• Ukuhlola amazinga e-cholesterol egazini (i-Lipid panel) kanye namazinga e-uric acid: La mazinga avame ukuphakama ezinganeni ezine-GSD.
• Ukuhlolwa kokusebenza kwesibindi: Lokhu kuhlolwa kusiza ekunqumeni ukuthi isibindi sonakele yini.
• I-ultrasound yesisu: Lokhu kusiza ekunqumeni ukuthi isibindi sikhulile yini (i-hepatomegaly).
• Ukuhlolwa kwezakhi zofuzo: Lena yindlela engcono kakhulu yokuqinisekisa lesi sifo. Kuthathwa isampula yegazi ukuze kuhlolwe izinguquko ezakhiweni zofuzo ezikhiqiza ama-enzyme ahlobene ne-GSD.

Kwezinye izimo, ukuze aqiniseke ngokuphelele ukuthi unesifo, udokotela angase ancome ukuthatha ingcezu encane yezicubu ezivela esibindini noma emisipheni ukuze ihlolwe (i-biopsy) .

Yiziphi izindlela zokwelapha lokhu? Ingabe kuyelapheka ngokuphelele?

Ngeshwa, alikho ikhambi le-GSD okwamanje. Kodwa ungakhathazeki.Kunezindlela zokwelapha ezisebenza kahle kakhulu ezingalawula izimpawu futhi zisize ingane iphile impilo ejwayelekile. Izindlela zokwelapha ziyahlukahluka kuye ngohlobo lwesifo.

Umgomo oyinhloko ukuvimbela amazinga kashukela egazini ukuthi ehle ngendlela eyingozi futhi awagcine esezingeni elizinzile.

Nazi ezinye izindlela zokwelapha:

1. Yondla njalo: Ikakhulukazi izingane ezincane, zizama ukugcina amazinga azo kashukela egazini ezinzile ngokuzipha ukudla njalo emahoreni ambalwa.

2. Ukusetshenziswa kwesitashi sikakolweni esingaphekiwe: Lena indlela yokwelapha ebaluleke kakhulu esetshenziswa ekuphathweni kwe-GSD. Isitashi sikakolweni siyi-carbohydrate eyinkimbinkimbi okunzima ukuthi umzimba wethu uyigaye. Ngakho-ke, uma i-cornstarch encane incibilikiswa emanzini bese iphuzwa, ikhipha kancane kancane i-glucose egazini. Lokhu kungagcina izinga likashukela egazini lizinzile amahora amaningana. Le ndlela iwusizo kakhulu ekuvimbeleni ushukela wegazi ophansi ikakhulukazi ebusuku .

3. Yelapha i-hypoglycemia ngokushesha: Lapho nje kuvela izimpawu ze-hypoglycemia, kufanele unikezwe amaphilisi e-glucose noma isiphuzo esinoshukela ukuze ubuyisele amazinga kashukela egazini ngokushesha. Ukulibazisa lokhu kungaholela ezimweni ezibucayi ezifana nokuquleka.

4. Ukwelashwa kwezinye izinkinga: Ezimweni ezifana namazinga aphezulu e-cholesterol (i-hyperlipidemia) kanye namazinga aphezulu e-uric acid (i-hyperuricemia), udokotela uzokunikeza imithi edingekayo (isib. i-allopurinol, ama-statin).

5. Ukwelashwa Kokufaka I-Enzyme Esikhundleni (ERT): Kwezinye izinhlobo ze-GSD, njengesifo se-Pompe, kukhona ukwelashwa okuthatha indawo ye-enzyme engekho ngokufakwa kwe-IV. Lokhu kusacwaningwa.

6. Ukufakelwa Kwesibindi: Ezimweni lapho isibindi sonakele kakhulu ngenxa ye-GSD, ukufakelwa kwesibindi kungadingeka njengesisombululo sokugcina.

Yiziphi izinkinga ezingavela uma uphila nalesi simo?

Uma lesi sifo singatholakali kusenesikhathi futhi singaphathwa kahle, kungavela izinkinga ezahlukahlukene. Lezi ziyahlukahluka kuye ngohlobo lwesifo. Isibonelo, uhlobo lwe-GSD olungalashwanga lungabangela izinkinga ezifana nalezi:

• Ubuthakathaka bamathambo nokuphuka kalula (i-osteoporosis)
• Ukuthomba okulibazisekile
• I-Gout
• Isifo sezinso
• Izimila zesibindi ezingezona ezomdlavuza (ama-adenoma esibindi)
• I-Polycystic Ovary Syndrome (PCOS)
• Amazinga kashukela aphansi njalo egazini angathinta ukusebenza kobuchopho.

Kodwa khumbula, eziningi zalezi zinkinga zingavinjelwa ngokuxilongwa kusenesikhathi, ukwelashwa okufanele, kanye nokuphathwa.

Ingakanani iminyaka yokuphila komuntu one-GSD?

Lokhu kuncike ohlotsheni lwesifo, ukuthi sitholakala kusenesikhathi kangakanani, nokuthi siphathwa kahle kangakanani. Ezinye izinhlobo ezinzima zingabulala ebuntwaneni. Kodwa ezinhlotsheni eziningi, ngokwelashwa okufanele, impilo evamile ingenzeka. Udokotela wakho uzokwazi ukukunikeza incazelo engcono kakhulu ngesimo sengane yakho.

Kufanele simbone nini udokotela?

Uma ingane yakho ihlala ibonisa izimpawu zoshukela ophansi egazini esixoxe ngazo ekuqaleni (ukuthuthumela, ukujuluka, ukuphaphatheka), noma uma unomuzwa wokuthi ingane yakho ayikhuli kahle noma inemisipha ebuthakathaka, qiniseka ukuthi ubona udokotela wezingane.

Ngenxa yokuthi i-GSD iyisimo esiyinkimbinkimbi, kubalulekile ukufuna ukwelashwa kudokotela onolwazi olukhethekile kule ndawo. Ithimba lezokwelapha lengane yakho lizokusekela ngazo zonke izindlela ezingenzeka phakathi nalolu hambo.