Ngaba umzimba wakho awukwazi ukugcina nokusebenzisa i-glucose ngokufanelekileyo? Masithethe ngeGlycogen Storage Disease (GSD)!

Ngaba wena okanye umntwana wakho niziva nidiniwe ngamaxesha onke? Okanye ngaba ngamanye amaxesha niziva nibanda ngequbuliso, nibila, kwaye nisizela? Ngaba nidinwa ngokukhawuleza xa nihamba okanye nidlala? Ngamanye amaxesha oku kunokubangelwa yingxaki encinci kwindlela umzimba wethu olawula ngayo amandla, oko kukuthi, indlela osebenzisa ngayo iswekile. Namhlanje siza kuthetha ngesifo esingaqhelekanga esibaluleke kakhulu ukuba wonke umntu asiqaphele. Esi sisifo sokugcina i-glycogen , esaziwa ngoogqirha njenge-`(Glycogen Storage Disease)` okanye `(GSD)` ngamafutshane.

Kalula nje, ithetha ukuthini le ``(GSD)``?

Kulungile, ngoku masibone ukuba yintoni le `(GSD)`. Ngamafutshane, yimeko apho imizimba yethu ingakwaziyo ukusebenzisa okanye ukugcina i-glycogen ngokufanelekileyo . Olu luhlobo lwesifo se-metabolic esizuzwa njengelifa, oko kuthetha ukuba sidluliselwa kumzali siye emntwaneni.

Ngoku usenokuba uyazibuza ukuba yintoni i-glycogen. I-Glycogen yindlela imizimba yethu yokugcina i-glucose, okanye iswekile, ekutyeni esikutyayo. Njengoko usazi, i-glucose yeyona fuel iphambili enika imizimba yethu amandla. Sifumana le glucose ekutyeni esikutyayo okuqulethe ii-carbohydrates. Umzimba awudingi yonke le glucose ngaxeshanye. Ngoko ke, umzimba ugcina le glucose ingaphezulu kwisibindi nakwimisipha njenge-glycogen. Ingasetyenziswa kamva xa sifuna amandla.

Inkqubo apho umzimba wethu uvelisa khona i-glycogen kwi-glucose ibizwa ngokuba yi -glycogenesis . Ngokufanayo, xa umzimba ufuna amandla kwakhona, inkqubo apho le glycogen igciniweyo iqhekeka khona ize ibuyiselwe kwi-glucose ibizwa ngokuba yi-glycogenolysis . Ii-enzyme ezahlukeneyo zinceda kuzo zombini ezi nkqubo.

Isifo sokugcina iGlycogen (GSD) senzeka xa enye okanye ezingaphezulu kwezi enzymes zingekho okanye zingasebenzi kakuhle. Oku kuthetha ukuba umzimba awukwazi ukusebenzisa i-glycogen egciniweyo ukuze ufumane amandla okanye ukugcina amanqanaba eswekile egazini ngokufanelekileyo. Oku kunokukhokelela kwiingxaki ezininzi, kuquka amanqanaba eswekile egazini aphantsi rhoqo (hypoglycemia) , umonakalo wesibindi, kunye nobuthathaka bemisipha.

Ngaba kukho iintlobo ezahlukeneyo ze-`(GSD)`?

Ewe, kuba imizimba yethu isebenzisa ii-enzymes ezahlukeneyo ukucubungula i-glycogen, kukho iintlobo ezahlukeneyo ze-GSD - ubuncinane ezili-19! Oogqirha bayazi okuninzi ngezinye iintlobo, kodwa basafunda ngezinye. I-GSD ichaphazela kakhulu isibindi okanye izihlunu zakho. Kodwa ezinye iintlobo zinokubangela iingxaki nakwezinye iindawo zomzimba wakho.

Uhlobo ngalunye lwe-GSD lubangelwa kukunqongophala kwe-enzyme ethile ebandakanyekayo ekugcinweni okanye ekuqhekekeni kwe-glycogen. Oku kuthetha ukuba i-enzyme ilahlekile okanye incinci. Oogqirha ngamanye amaxesha bathiya ezi ntlobo ngegama le-enzyme elahlekileyo okanye isazinzulu esafumanisa i-GSD okokuqala.

Ixhaphake kangakanani isifo sokugcina i-glycogen?

Enyanisweni, isifo sokugcina i-glycogen sisifo esingaqhelekanga kakhulu . ``(GSD)``` uhlobo I``(GSD uhlobo I (von Gierke disease))``, oluluhlobo oluqhelekileyo, lwenzeka kumntu omnye kwabayi-100,000 abazalwayo. Ngoko ke ungabona ukuba oku kunqabile kangakanani.

Zithini iimpawu ze-GSD?

Iimpawu ze-GSD zingahluka kumntu nomntu. Oku kuthetha ukuba nabantu ababini abanohlobo olufanayo lwe-GSD banokuba neempawu ezahlukeneyo. Uhlobo lwe-GSD I (olona hlobo luqhelekileyo) ludla ngokuqala ukubonisa iimpawu xa umntwana eneenyanga ezintathu ukuya kwezine ubudala . Nangona kunjalo, ezinye iintlobo zinokubonisa iimpawu kamva, ngamanye amaxesha kwanakwiminyaka yokufikisa.

Iimpawu ezimbini eziphambili ezibonakala kule meko kukwehla kweswekile egazini (i-hypoglycemia) kunye/okanye ukudinwa ngexesha lokuzilolonga, njengokubaleka okanye ukutsiba (ukunganyamezelani nokuzilolonga).

Iswekile ephantsi egazini (hypoglycemia) kuxa inqanaba leswekile egazini lakho lihla ngaphantsi kwe-70 mg/dL. Xa oku kusenzeka, unokufumana iimpawu ezifana nezi:

• Ukuziva ngathi umzimba wakho uyangcangcazela.
• Ukubila nokuziva ubanda.
• Isiyezi , ukuziva intloko ijikeleza.
• Ukuziva ubuthathaka kwaye ungenabomi.
• Ukubetha kwentliziyo .
• Ngamanye amaxesha, indlala enganyamezelekiyo ifika, kwaye abanye abantu bayibiza ngokuba yi-"hyperphagia".
• Ubunzima bokucinga, ukungakwazi ukugxila.
• Ukuziva uxhalabile kwaye unomsindo.
• Ukuphaphatheka kolusu (ukufiphala).
• Ngamanye amaxesha, ukuba amanqanaba eswekile egazini ehla kakhulu , ukuxhuzula kunokwenzeka .

Khawucinge nje ukuba umntwana wakho omncinci ebedlala kakuhle aze ngequbuliso aqalise ukungcangcazela, ukubila, aze angakwazi nokuthetha? Ubuya kuziva ungoyiki kangakanani ngaloo mzuzu? Yiyo loo nto i-hypoglycemia ibangelwa kukungakhathali.

Ukongeza koku, ezinye iimpawu ezifana ne-`(GSD)` nazo zinokubonwa:

• Ukuqaqamba kwemisipha okanye ubuthathaka bemisipha.
• Ukukhula kancinci kunye nokuncipha kancinci kobunzima ebantwaneni.
• Ukwanda kwesibindi (i-hepatomegaly).
• Ithoni yemisipha ephantsi.
• Ukwanda kwe-cholesterol egazini (i-hyperlipidemia).

Yintoni ebangela i-GSD?

Eyona nto ibangela i-GSD kukuguquka kwezakhi zofuzo okuzuzwe njengelifa . Olu tshintsho lwezakhi zofuzo luchaphazela umsebenzi wee-enzymes ezifunekayo ukugcina nokusebenzisa i-glycogen. Umntwana ufumana olu tshintsho lwezakhi zofuzo kumama nakutata wakhe.

Uninzi lwee-GSD zine -autosomal recessive inheritance pattern. Oku kuthetha ukuba ukuze umntwana abe nale meko, utshintsho lwemfuza kufuneka lufunyanwe kumama nakutata.

Nangona kunjalo, ezinye iintlobo, ezifana neGSD Group IX, zine -X-linked inheritance . Oku kuthetha ukuba i-genetic mutation ikwi-X chromosome yakho. Ukuba indoda (ene-X chromosome enye kuphela) inale nguqu, iya kuba nesi sifo. Ukuba ibhinqa linale nguqu kwi-X chromosome enye kwaye enye i-X chromosome iphilile, ayisoloko ibonakalisa zimpawu, kodwa isenokuba ngumthwali wesifo.

Ndingafumanisa njani ukuba ndine `(GSD)`?

Ukuze uqiniseke ukuba umntwana wakho une-GSD, ugqirha womntwana wakho usenokuyalela iimvavanyo ezininzi. Ngenxa yokuba i-GSD yimeko engaqhelekanga, kungathatha ixesha ukufumanisa ukuba akukho ezinye iimeko kwaye kufunyaniswe ukuba loluphi uhlobo lwe-GSD abanalo. Ezi mvavanyo zingabandakanya:

• Uvavanyo lweswekile yegazi yokuzila ukutya: Ukuba iswekile yakho yegazi iphantsi emva kokuba ungatyanga nto kusasa, oko kungaba luphawu lwe-GSD.
• Uvavanyo lwegazi lwe-ketone: Xa umzimba ungakwazi ukusebenzisa i-glucose, utshisa amafutha ukuze ufumane amandla. Oku kuvelisa izinto ezibizwa ngokuba zii-ketones. Abantwana abane-GSD badla ngokuba nemeko ye -ketosis (ukwanda kwee-ketones egazini).
• Iphaneli ye-metabolic esisiseko: Oku kunokunika umbono wempilo yomntwana iyonke.
• Iphaneli yeLipid: Oku kubalulekile kuba i-cholesterol ephezulu (i-hyperlipidemia) ixhaphakile kwi-GSD.
• Uvavanyo lokusebenza kwesibindi: Olu vavanyo lunokujonga impilo yesibindi somntwana wakho. Ukuba kukho naziphi na iingxaki, lunokuba luphawu lwe-GSD.
• Uvavanyo lomchamo: Uvavanyo lomchamo lunokujonga amanqanaba e-creatinine (abonisa ukusebenza kwezintso) kunye namanqanaba e-uric acid. I-GSD idla ngokubonisa amanqanaba aphezulu e-uric acid (i-hyperuricemia) .
• I-ultrasound yesisu: Oku kunokujonga ukuba isibindi somntwana sikhulu na.
• Uvavanyo lwemfuza: Oku kujonga iingxaki zemfuza ezinxulumene nee-enzymes ezahlukeneyo.

Nangona kukho uvavanyo oluthile lwemfuza ukuze kuchongwe iintlobo ezininzi ze-GSD, ngamanye amaxesha ugqirha womntwana wakho unokucebisa ukuba kwenziwe i-biopsy , equka ukuthatha iqhekeza elincinci lesicwili kwisibindi okanye kwimisipha, ukuqinisekisa ukuxilongwa.

Iphathwa njani i-GSD?

Ngelishwa, akukho nyango lwesifo sokugcina i-glycogen. Unyango lujolise kakhulu ekulawuleni iimpawu. Iindlela zonyango ziyahluka ngokuxhomekeke kuhlobo lwe-GSD onayo. Nazi ezinye zemizekelo yeendlela zonyango:

• Ukuthintela iswekile ephantsi egazini: Ukunika i-cornstarch engaphekwanga okanye isongezelelo esifanayo sesondlo ngexesha elifanelekileyo nangomlinganiselo ofanelekileyo kunokunceda ukugcina amanqanaba eswekile egazini ezinzile. I-cornstarch yi-carbohydrate eyinkimbinkimbi ekunzima kancinci ukuba umzimba uyigaye. Ke ngoko, inokulawula amanqanaba eswekile egazini ixesha elide kunee-carbohydrate ezifumaneka ekutyeni okuqhelekileyo. Ngoku kukho imveliso engcono kakhulu yokuthengisa ehlala emzimbeni ixesha elide. Oku kuya kuphelisa nesidingo sokuvuka ezinzulwini zobusuku ukuze wondle inja yakho.
• Ukunyanga iswekile ephantsi egazini: Ukuba iswekile yakho yegazi iyehla ngenxa ye-GSD , kufuneka uyinyange ngoko nangoko ngeecarbohydrates. Ngaphandle koko, i-hypoglycemia inokuba mandundu kwaye ikhokelele kwiingxaki ezifana nokuxhuzula kunye ne-coma.
• Ukulawula i-cholesterol ephezulu: Udidi lwamayeza abizwa ngokuba yi-statins lunceda ukulawula amanqanaba e-cholesterol.
• Ukulawula amanqanaba aphezulu e-uric acid: Iyeza i- allopurinol linceda ekunciphiseni ukuveliswa kwe-uric acid emzimbeni.

Ezinye iintlobo ze-GSD (umzekelo, uhlobo lwe-GSD II) zinokunyangwa ngonyango lokutshintshwa kwe-enzyme (ERT) . Oku kudla ngokunikezelwa njengokufakwa kwe-IV. Uphando lusaqhubeka ukuze kubonwe ukuba i-ERT ingasetyenziselwa ezinye iintlobo ze-GSD.

Ukuba isibindi sonakele kakhulu ngenxa ye-GSD, kunokufuneka ukuba kufakwe esinye isibindi .

Ngaba isifo sokugcina i-glycogen sinokuthintelwa?

Ekubeni izifo zokugcina i-glycogen ziyimeko yemfuza (ezuzwe njengelifa), akukho nto sinokuyenza ukuzithintela.

Ukuba kukho umntu kusapho lwakho one-GSD, kwaye ucinga ngokuba nomntwana, kulungile ukufuna iingcebiso ngemfuza ukuze ufumane ukuba nawe ungumntu othwala olu tshintsho lwemfuza.

Injani imeko yempilo yomntu one-`(GSD)`?

Kwiintlobo ezininzi ze-GSD, ukuxilongwa kwangoko kunye nolawulo olufanelekileyo kunokuphucula ukubikezela kwesigulana. Nangona kunjalo, ezinye iintlobo ze-GSD kunzima ukuzilawula. Ugqirha wakho angakunika umbono ongcono wento omawuyilindele.

Ziziphi iingxaki ezinokubakho ze-GSD?

I-GSD inokubangela iingxaki ezahlukeneyo. Ixhomekeke kwezi zinto zilandelayo:

• Kuhlobo lwe-`(GSD)`.
• Ukuba ukufunyaniswa kwesi sifo kulibaziseke.
• Esi sifo, ukuba asilawulwa kakuhle, siya kuqhubeka.

Umzekelo, ezinye zeengxaki ezinokubakho ngenxa yokunganyangwa kwe-``(GSD)`` Udidi I zezi:

• Ukuncipha koxinano lwamathambo, ukwaphuka lula kwamathambo, kunye ne-osteoporosis .
• Ukufikisa okulibazisekileyo.
• Igawuthi.
• Isifo sezintso.
• Uxinzelelo lwegazi oluphezulu lwemiphunga.
• Izimila zesibindi ezingezizo ezomhlaza (ii-hepatic adenomas).
• Abafazi abane-polycystic ovary syndrome (PCOS).
• Ukudumba kwepancreas (iPancreatitis).
• Amanqanaba eswekile egazini aphantsi rhoqo anokuchaphazela ukusebenza kwengqondo.

Ingakanani ixesha lokuphila komntu one-`(GSD)`?

Ulindelo lobomi bomntu onesifo sokugcina i-glycogen (GSD) luyahluka ngokuxhomekeke kuhlobo, ukuba esi sifo sifunyanwa njani kwangethuba, kwaye silawulwa kakuhle kangakanani. Ezinye iintlobo zinokuba yingozi ebuntwaneni, ngelixa ezinye zinokukhokelela kubomi obuqhelekileyo. Ugqirha wakho angakunika icebiso elihle ngale nto.

Ndifanele ndimbone nini ugqirha?

Ukuba wena okanye umntwana wakho nifumana ubuthathaka bemisipha okanye iimpawu ezingapheliyo zeswekile ephantsi egazini, bonana nogqirha ngokukhawuleza.

Izifo zokugcina iGlycogen ziimeko ezingaqhelekanga nezintsonkothileyo. Ngoko ke, ukuba kunokwenzeka, kungcono ukufumana ugqirha onolwazi ngesi sifo nendlela yokusinyanga. Iqela lezonyango lomntwana wakho liya kuba nawe kuyo yonke inyathelo ukukunceda ukhethe unyango olufanelekileyo kuye.

Umyalezo Wokuya Ekhaya:

Ngoko ke, ndiyathemba ukuba ngoku uyiqonda ngcono into ebesithetha ngayo, iGlycogen Storage Disease (GSD). Nangona esi sisihloko sinzima kancinci, kubaluleke kakhulu ukukhumbula iingongoma eziphambili.

Khumbula: I-GSD liqela lezifo ezingaqhelekanga, ezizuzwe njengelifa ezibangela ukuba umzimba ungayisebenzisi kakuhle i-glycogen (indawo yokugcina iswekile emzimbeni wethu).

• Iimpawu eziphambili: Iswekile ephantsi rhoqo egazini (hypoglycemia) kunye nokudinwa ngokukhawuleza ngexesha lokuzilolonga.
• Unobangela: Ukungabikho kwee-enzyme ezibangelwa lutshintsho lwemfuza.
• Uxilongo: Uvavanyo lwegazi, uvavanyo lomchamo, i-ultrasound, uvavanyo lwemfuza, kwaye mhlawumbi ne-biopsy.
• Unyango: Ulawulo lweempawu yeyona nto iphambili. Ukutya (ingakumbi i-cornstarch), amayeza ukuba kuyimfuneko, kunye nonyango lokutshintshwa kwee-enzyme (ERT) kwezinye iintlobo.
• Eyona nto ibalulekileyo: Ukuxilongwa kwangoko kunye nolawulo olufanelekileyo kunokukunceda uphile ubomi obuqhelekileyo. Ukuba uneempawu, musa ukulibazisa ukufuna ingcebiso kagqirha.

Siyathemba ukuba olu lwazi luluncedo kuwe. Hlala usempilweni!