Ingabe umzimba wakho awukwazi ukugcina nokusebenzisa i-glucose ngendlela efanele? Ake sixoxe ngesifo sokugcina i-Glycogen (GSD)!

Ingabe wena noma ingane yakho nizizwa nikhathele ngaso sonke isikhathi? Noma ingabe ngezinye izikhathi nizizwa nibanda ngokuzumayo, nijuluka, futhi nididekile? Ingabe nikhathala ngokushesha lapho nihamba noma nidlala? Ngezinye izikhathi lokhu kungabangelwa inkinga encane endleleni umzimba wethu olawula ngayo amandla, okungukuthi, indlela osebenzisa ngayo ushukela. Namuhla sizokhuluma ngesifo esingavamile okubaluleke kakhulu ukuthi wonke umuntu asiqaphele. Leso isifo sokugcina i-glycogen , esaziwa futhi phakathi kodokotela ngokuthi `(Glycogen Storage Disease)` noma `(GSD)` ngamafuphi.

Kalula nje, kusho ukuthini lokhu ``(GSD)``?

Kulungile, manje ake sibone ukuthi iyini le `(GSD)`. Kalula nje, yisimo lapho imizimba yethu ingakwazi ukusebenzisa noma ukugcina i-glycogen ngendlela efanele . Lokhu uhlobo lokuphazamiseka kwe-metabolic oluzuzwa njengefa, okusho ukuthi ludluliselwa kusuka kumzali luye enganeni.

Manje ungase uzibuze ukuthi iyini i-glycogen. I-Glycogen iyindlela imizimba yethu yokugcina ngayo i-glucose, noma ushukela, ekudleni esikudlayo. Njengoba wazi, i-glucose iwuphethiloli oyinhloko onika imizimba yethu amandla. Sithola le glucose ekudleni esikudlayo okuqukethe ama-carbohydrate. Umzimba awudingi yonke le glucose ngesikhathi esisodwa. Ngakho-ke, umzimba ugcina le glucose eningi esibindini nasemisipheni njenge-glycogen. Uyisebenzisa kamuva lapho sidinga amandla.

Inqubo umzimba wethu okhiqiza ngayo i-glycogen nge-glucose ibizwa ngokuthi i-glycogenesis . Ngokufanayo, lapho umzimba udinga amandla futhi, inqubo lapho le glycogen egciniwe ihlukaniswa khona futhi ibuyiselwe ku-glucose ibizwa ngokuthi i-glycogenolysis . Ama-enzyme ahlukahlukene ayasiza kuzo zombili lezi zinqubo.

Isifo sokugcina i-Glycogen (GSD) senzeka lapho enye noma ngaphezulu yalezi enzyme ingekho noma ingasebenzi kahle. Lokhu kusho ukuthi umzimba awukwazi ukusebenzisa i-glycogen egciniwe ukuze uthole amandla noma ukugcina amazinga kashukela egazini ngendlela efanele. Lokhu kungaholela ezinkingeni eziningana, okuhlanganisa amazinga kashukela egazini aphansi njalo (hypoglycemia) , ukulimala kwesibindi, kanye nobuthakathaka bemisipha.

Ingabe kunezinhlobo ezahlukene ze-`(GSD)`?

Yebo, ngoba imizimba yethu isebenzisa ama-enzyme ahlukene ukucubungula i-glycogen, kunezinhlobo ezahlukene ze-GSD - okungenani ezingu-19! Odokotela bazi okuningi ngezinhlobo ezithile, kodwa basafunda ngezinye. I-GSD ithinta kakhulu isibindi noma imisipha yakho. Kodwa ezinye izinhlobo zingabangela izinkinga nakwezinye izingxenye zomzimba.

Uhlobo ngalunye lwe-GSD lubangelwa ukuntuleka kwe-enzyme ethile ehilelekile ekugcinweni noma ekuqhekekeni kwe-glycogen. Lokhu kusho ukuthi i-enzyme ayikho noma inenani elincishisiwe. Odokotela ngezinye izikhathi baqamba lezi zinhlobo ngegama le-enzyme engekho noma usosayensi owathola i-GSD okokuqala.

Isifo sokugcina i-glycogen sivame kangakanani?

Empeleni, isifo sokugcina i-glycogen siyisimo esingavamile kakhulu . ``(GSD)``` uhlobo I``(GSD uhlobo I (isifo sika-von Gierke))``, okuwuhlobo oluvame kakhulu, lwenzeka cishe koyedwa kwabayi-100,000 abazalwa. Ngakho ungabona ukuthi lokhu kungavamile kangakanani.

Ziyini izimpawu ze-GSD?

Izimpawu ze-GSD zingahluka kumuntu nomuntu. Lokhu kusho ukuthi ngisho nabantu ababili abanohlobo olufanayo lwe-GSD bangaba nezimpawu ezihlukene. Uhlobo lwe-GSD I (uhlobo oluvame kakhulu) luvame ukuqala ukukhombisa izimpawu lapho umntwana enezinyanga ezintathu kuya kwezine ubudala . Kodwa-ke, ezinye izinhlobo zingase zibonise izimpawu kamuva, ngezinye izikhathi ngisho nasebusheni.

Izimpawu ezimbili eziyinhloko ezibonakala kulesi simo ushukela ophansi egazini (i-hypoglycemia) kanye/noma ukukhathala ngesikhathi sokuzivocavoca, njengokugijima noma ukugxuma (ukungabekezeleli ukuzivocavoca).

Ushukela ophansi egazini (i-hypoglycemia) yilapho izinga likashukela egazini lakho lehla ngaphansi kuka-70 mg/dL. Uma lokhu kwenzeka, ungase ube nezimpawu ezifana nalezi:

• Ukuzizwa sengathi umzimba wakho uyathuthumela.
• Ukujuluka nokuzizwa ubanda.
• Isiyezi , umuzwa wokuzungeza ikhanda.
• Ukuzizwa ubuthakathaka futhi ungenampilo.
• Ukushaya kwenhliziyo .
• Ngezinye izikhathi, indlala engabekezeleleki ifika, futhi abanye abantu bakubiza lokhu ngokuthi "i-hyperphagia".
• Ubunzima bokucabanga, ukungakwazi ukugxila.
• Ukuzizwa ukhathazekile futhi uthukuthele.
• Ukuphaphatheka kwesikhumba (ubumhlophe).
• Ngezinye izikhathi, uma amazinga kashukela egazini ehla kakhulu , ukuquleka kungavela .

Cabanga nje uma ingane yakho encane idlala kahle bese iqala ukuthuthumela, ukujuluka, futhi ingakwazi nokukhuluma? Ubungazizwa wesabeka kangakanani ngaleso sikhathi? Yilokho okushiwo yi -hypoglycemia .

Ngaphezu kwalokhu, ezinye izici ezifana ne-`(GSD)` nazo zingabonakala:

• Ukuqaqamba kwemisipha noma ubuthakathaka bemisipha.
• Ukukhula kancane kanye nokukhuluphala okuncane ezinganeni.
• Ukwanda kwesibindi (i-hepatomegaly).
• Ithoni yemisipha ephansi.
• Ukwanda kwe-cholesterol egazini (i-hyperlipidemia).

Yini ebangela i-GSD?

Imbangela eyinhloko ye-GSD ukuguquka kwezakhi zofuzo okuzuzwe njengefa . Lokhu kuguquka kwezakhi zofuzo kuthinta ukusebenza kwama-enzyme adingekayo ukugcina nokusebenzisa i-glycogen. Ingane izuza lokhu kuguqulwa kwezakhi zofuzo kunina nakuyise.

Iningi lama-GSD linephethini yefa eliphindaphindayo le-autosomal. Lokhu kusho ukuthi ukuze ingane ibe nalesi simo, ukwehluka kwezakhi zofuzo kumele kutholwe njengefa kumama nakubaba.

Kodwa-ke, ezinye izinhlobo, njenge-GSD Group IX, zinefa elixhumene ne-X . Lokhu kusho ukuthi ukuguquka kwezakhi zofuzo ku-chromosome yakho ye-X. Uma owesilisa (one-chromosome eyodwa ye-X kuphela) enalolu guquko, uzoba nalesi sifo. Uma owesifazane enalolu guquko ku-chromosome eyodwa ye-X kanti enye i-chromosome ye-X iphilile, ngokuvamile ngeke abonise izimpawu, kodwa angase abe ngumthwali walesi sifo.

Ngingathola kanjani ukuthi ngine-`(GSD)`?

Ukuze athole ukuthi ingane yakho ine-GSD, udokotela wengane yakho cishe uzoyala ukuhlolwa okuningana. Ngenxa yokuthi i-GSD iyisimo esingavamile, kungathatha isikhathi esithile ukususa ezinye izimo nokuthola ukuthi hlobo luni lwe-GSD abanalo. Lokhu kuhlolwa kungafaka:

• Ukuhlolwa kukashukela wegazi ngokuzila ukudla: Uma izinga likashukela egazini lakho liphansi ngemva kokuthi ungadlanga lutho ekuseni, kungaba uphawu lwe-GSD.
• Ukuhlolwa kwegazi le-ketone: Uma umzimba ungakwazi ukusebenzisa i-glucose, ushisa amafutha ukuze uthole amandla. Lokhu kukhiqiza izinto ezibizwa ngokuthi ama-ketone. Izingane ezine-GSD zivame ukuba nesimo se- ketosis (ukwanda kwama-ketone egazini).
• Iphaneli ye-metabolic eyisisekelo: Lokhu kunganikeza umbono wempilo yengane iyonke.
• Iphaneli ye-lipid: Lokhu kubalulekile futhi ngoba i-cholesterol ephezulu (i-hyperlipidemia) ivame kakhulu kwi-GSD.
• Ukuhlolwa kokusebenza kwesibindi: Lokhu kungahlola impilo yesibindi sengane yakho. Uma kukhona ukukhubazeka, kungaba uphawu lwe-GSD.
• Ukuhlolwa komchamo: Ukuhlolwa komchamo kungahlola amazinga e-creatinine (okubonisa ukusebenza kwezinso) kanye namazinga e-uric acid. I-GSD ivame ukukhombisa amazinga aphezulu e-uric acid (i-hyperuricemia) .
• I-ultrasound yesisu: Lokhu kungahlola ukuthi isibindi sengane sikhulile yini.
• Ukuhlolwa kwezakhi zofuzo: Lokhu kuhlola izinkinga ngezakhi zofuzo ezihlobene nama-enzyme ahlukahlukene.

Nakuba kunezivivinyo ezithile zofuzo zokuhlonza izinhlobo eziningi ze-GSD, ngezinye izikhathi udokotela wengane yakho angase atuse i-biopsy , ehilela ukuthatha ingxenye encane yezicubu esibindini noma emisipheni, ukuqinisekisa ukuxilongwa.

Iphathwa kanjani i-GSD?

Ngeshwa, ayikho ikhambi lesifo sokugcina i-glycogen. Ukwelashwa kuhloswe kakhulu ukulawula izimpawu. Izinketho zokwelapha ziyahlukahluka kuye ngohlobo lwe-GSD onayo. Nazi ezinye izibonelo zezinketho zokwelapha:

• Ukuvimbela ushukela wegazi ophansi: Ukunikeza i-cornstarch engaphekiwe noma isithasiselo esifanayo sokudla ngesikhathi esifanele nangenani elifanele kungasiza ukugcina amazinga kashukela egazini ezinzile. I-cornstarch iyi-carbohydrate eyinkimbinkimbi okunzima kancane ukuthi umzimba uyigaye. Ngakho-ke, ingalawula amazinga kashukela egazini isikhathi eside kunama-carbohydrate atholakala ekudleni okuvamile. Manje sekunomkhiqizo ongcono kakhulu othengiswayo ohlala emzimbeni isikhathi eside. Lokhu kuzosusa nesidingo sokuvuka phakathi kobusuku ukuze wondle inja yakho.
• Ukwelapha ushukela wegazi ophansi: Uma ushukela wakho wegazi wehla ngenxa ye-GSD , kufanele ulaphe ngokushesha ngama-carbohydrate. Ngaphandle kwalokho, i-hypoglycemia ingaba yimbi kakhulu futhi iholele ezinkingeni ezifana nokuquleka kanye ne-coma.
• Ukulawula i-cholesterol ephezulu: Uhlobo lwemithi olubizwa ngokuthi ama-statins lusiza ukulawula amazinga e-cholesterol.
• Ukulawula amazinga aphezulu e-uric acid: Umuthi i -allopurinol usiza ekunciphiseni ukukhiqizwa kwe-uric acid emzimbeni.

Ezinye izinhlobo ze-GSD (isibonelo, uhlobo lwe-GSD II) zingelashwa ngokwelashwa kokushintshana kwe-enzyme (ERT) . Lokhu kuvame ukunikezwa njengokufakwa kwe-IV. Ucwaningo lusaqhubeka ukuze kubonwe ukuthi i-ERT ingasetshenziswa yini kwezinye izinhlobo ze-GSD.

Uma isibindi sonakele kakhulu ngenxa ye-GSD, kungadingeka ukufakelwa isibindi .

Ingabe isifo sokugcina i-glycogen singavinjelwa?

Njengoba izifo zokugcina i-glycogen ziyizimo zofuzo (ezizuzwe njengefa), akukho esingakwenza ukuzivimbela.

Uma othile emndenini wakho ene-GSD, futhi ucabanga ngokuba nomntwana, kuwumqondo omuhle ukufuna ukwelulekwa ngofuzo ukuze uthole ukuthi nawe ungumuntu othwala lolu hlobo lofuzo.

Sinjani isimo sempilo somuntu one-`(GSD)`?

Ezinhlotsheni eziningi ze-GSD, ukuxilongwa kusenesikhathi kanye nokuphathwa okufanele kungathuthukisa ukubikezela kwesiguli. Kodwa-ke, ezinye izinhlobo ze-GSD kunzima kakhulu ukuzilawula. Udokotela wakho angakunikeza umbono ongcono walokho ongakulindela.

Yiziphi izinkinga ezingaba khona ngenxa ye-GSD?

I-GSD ingadala izinkinga ezahlukahlukene. Kuncike ku:

• Ohlotsheni lwe-`(GSD)`.
• Uma ukutholakala kwesifo kubambezelekile.
• Lesi sifo, uma singaphathwa kahle, sizoqhubeka.

Isibonelo, ezinye zezinkinga ezingase zenzeke ngenxa yesigaba ``(GSD)`` esingalashwa yilezi:

• Ukuncipha kokuqina kwamathambo, ukuphuka kalula kwamathambo, kanye ne-osteoporosis .
• Ukuthomba okulibazisekile.
• I-Gout.
• Isifo sezinso.
• Umfutho wegazi ophezulu wamaphaphu.
• Izimila zesibindi ezingezona umdlavuza (ama-adenoma esibindi).
• Abesifazane abane- polycystic ovary syndrome (PCOS).
• Ukuvuvukala kwe-pancreas (i-pancreatitis).
• Amazinga kashukela aphansi njalo egazini angathinta ukusebenza kobuchopho.

Ingakanani impilo yomuntu one-`(GSD)`?

Isikhathi sokuphila somuntu onesifo sokugcina i-glycogen (GSD) siyahlukahluka kuye ngohlobo, ukuthi lesi sifo sitholakala ngokushesha kangakanani, nokuthi siphathwa kahle kangakanani. Ezinye izinhlobo zingaba yingozi ebuntwaneni, kanti ezinye zingaholela ekuphileni okuvamile. Udokotela wakho angakunikeza iseluleko esingcono kakhulu ngalokhu.

Kufanele ngimbone nini udokotela?

Uma wena noma ingane yakho nizwa ubuthakathaka bemisipha noma izimpawu eziqhubekayo zoshukela wegazi ophansi, bona udokotela ngokushesha.

Izifo zokugcina i-Glycogen ziyizimo ezingavamile futhi eziyinkimbinkimbi. Ngakho-ke, uma kungenzeka, kungcono ukuthola udokotela onolwazi ngalesi sifo nokuthi ungaselapha kanjani. Ithimba lezokwelapha lengane yakho lizoba nawe kuzo zonke izinyathelo zendlela ukukusiza ukuthi unqume ukwelashwa okungcono kakhulu kubo.

Umyalezo Wokuya Ekhaya:

Ngakho-ke, ngithemba ukuthi manje usunokuqonda okungcono ngalokho ebesikhuluma ngakho, i-Glycogen Storage Disease (GSD). Nakuba lesi kuyisihloko esiyinkimbinkimbi kancane, kubaluleke kakhulu ukukhumbula amaphuzu ayinhloko.

Khumbula: I-GSD iyiqembu lezifo ezingavamile, ezizuzwe njengefa ezibangela ukuthi umzimba ungasebenzisi kahle i-glycogen (isitolo sikashukela somzimba wethu).

• Izimpawu eziyinhloko: Ushukela ophansi njalo egazini (hypoglycemia) kanye nokukhathala okusheshayo ngesikhathi sokuzivocavoca.
• Imbangela: Ukuntuleka kwama-enzyme okubangelwa izinguquko zofuzo.
• Ukuxilongwa: Ukuhlolwa kwegazi, ukuhlolwa komchamo, i-ultrasound, ukuhlolwa kofuzo, kanye nokuhlolwa kwe-biopsy.
• Ukwelashwa: Ukulawula izimpawu yikona okuyinhloko. Ukudla (ikakhulukazi i-cornstarch), imithi uma kudingeka, kanye nokwelashwa kokufaka ama-enzyme (ERT) kwezinye izinhlobo.
• Into ebaluleke kakhulu: Ukuxilongwa kusenesikhathi kanye nokuphathwa kahle kungakusiza ukuthi uphile impilo evamile kakhulu. Uma unezimpawu, ungalibali ukufuna iseluleko sezokwelapha.

Sithemba ukuthi lolu lwazi luwusizo kuwe. Hlala uphilile!