Ngaba umntwana wakho uhlala ediniwe? Ngaba uneswekile ephantsi egazini? Oku kusenokuba kubangelwa yiGlycogen Storage Disease (GSD)

Ngaba umntwana wakho omncinci uhlala ediniwe kwaye ediniwe? Ngaba umntwana wakho uma kancinci ecaleni xa abanye abantwana abaneminyaka efanayo bebaleka bedlala? Okanye ngaba umntwana wakho ujika abe mdaka ngesiquphe, abile, aze aqhaqhazele xa esitya? Njengomzali, kuqhelekile ukuba uzive usoyika kakhulu xa ubona ezi zinto. Nangona kunokubakho izizathu ezininzi zeempawu ezinjalo, namhlanje siza kuthetha ngemeko engaqhelekanga kodwa ebaluleke kakhulu ebangela iimpawu ezinjalo. Leyo yiGlycogen Storage Disease, okanye (GSD) ngamafutshane.

Ngamafutshane, yintoni iGlycogen Storage Disease (GSD)?

Kulungile, masiqonde oku ngokulula. Khawucinge ukuba umzimba wethu ufana nemoto. Imoto idinga ipetroli ukuze isebenze. Ngokufanayo, umzimba wethu udinga amandla okwenza zonke ezi zinto, ukubaleka, ukutsiba, ukucinga, nokuthandaza. Umthombo oyintloko wamandla emzimbeni wethu yiglucose , eyiswekile nje. Sifumana le glucose ekutyeni kwecarbohydrate esikutyayo, okufana nerayisi, isonka, kunye neetapile.

Ngoku, xa sisitya, umzimba wethu ufumana iglucose engaphezulu kunaleyo uyidingayo ukuze ufumane amandla ngelo xesha. Ngoko ke umzimba wethu okrelekrele wenza ntoni? Ugcina loo glucose eyongezelelweyo ukuze uyisebenzise kamva. Kufana nokugcina ibhanki yamandla itshajiwe kwifowuni yethu. Le ndlela yokugcina iglucose ibizwa ngokuba yi-glycogen . Le glycogen igcinwa kakhulu kwisibindi nakwimisipha yethu.

Xa singatyi, okanye xa sichitha amandla amaninzi, njengaxa sizilolonga, umzimba wethu uguqula loo glycogen igciniweyo ibe yiglucose uze uyisebenzise njengamandla.

Nantsi yonke le nkqubo, oko kukuthi, ukuguqula i-glucose ibe yi-glycogen kunye ne-glycogen ibuyele kwi-glucose, umzimba wethu udinga uhlobo oluthile lweproteni. Sizibiza ngokuba zii-enzymes . Kufana nokuba nabasebenzi abasebenza kumzi-mveliso.

Isifo Sokugcinwa KweGlycogen (GSD) yimeko eyenzeka xa enye okanye ezingaphezulu kwezi enzymes zingekho okanye zingasebenzi kakuhle emzimbeni wethu. Oku kuthetha ukuba umzimba awukwazi ukugcina i-glycogen ngokufanelekileyo okanye ukusebenzisa i-glycogen egciniweyo xa kufuneka. Oku kunokukhokelela kwiingxaki ezifana namanqanaba aphantsi kakhulu eswekile egazini (hypoglycemia) kunye nobuthathaka bemisipha.

Zingaphi iintlobo ze-GSD ezikhoyo?

Ewe. Njengoko besitshilo ngaphambili, kukho iintlobo ezininzi zee-enzymes ezibandakanyeka kwi-metabolism ye-glycogen. Ngoko ke, kukho iintlobo ezininzi ze-GSD ngokuxhomekeke ekuswelekeni kwe-enzyme nganye kwezo. Zingaphezulu kwe-19 iintlobo ezichongiweyo ukuza kuthi ga ngoku. Nangona singazi kangako ngazo zonke, siyaqonda kakuhle ezinye zeentlobo eziphambili.

Ezi ntlobo ze-GSD zichaphazela kakhulu isibindi okanye izihlunu.Kodwa ezinye iintlobo zinokubangela iingxaki nakwezinye iindawo zomzimba. Oogqirha bazibiza ezi ntlobo ngegama le-enzyme ebandakanyekayo okanye isazinzulu esafumanisa esi sifo okokuqala. Kwezi, ezona zixhaphakileyo yi-GSD type I (GSD type I), eyaziwa ngokuba sisifo se-von Gierke.

Zithini iimpawu eziphambili ze-GSD? Siyibona njani?

Iimpawu ze-GSD zinokwahluka ngokuxhomekeke kuhlobo lwesifo kwanaphakathi kwabantu abanohlobo olufanayo. Uhlobo oluqhelekileyo lwe-GSD, uhlobo loku-1, ludla ngokuqala ukubonakala xa umntwana eneenyanga ezintathu ukuya kwezine ubudala . Nangona kunjalo, ezinye iintlobo zinokubonakala ngeempawu kamva kakhulu, ngamanye amaxesha kwanaxa sele ekhulile.

Iimpawu ezimbini eziphambili neziqhelekileyo zezi:

1. Amanqanaba aphantsi eswekile egazini (hypoglycemia)

2. Ukudinwa lula xa uzilolonga okanye udlala (ukunganyamezelani nokuzilolonga)

Makhe sijonge ezi mpawu ngokweenkcukacha.

Kutheni i-GSD ikhula? Ngaba sisifo esidluliselwa kwilifa?

Ewe, i-GSD sisifo esizuzwa njengelifa ngokupheleleyo. Oku kuthetha ukuba esi sifo sibangelwa kukuguquka kwezakhi zofuzo ezidluliselwa kubazali ukuya ebantwaneni.

Uninzi lwee-GSD zizuzwa njengelifa ngendlela ye -autosomal recessive pattern. Ngamafutshane, oku kuthetha ukuba ukuze umntwana abe nesi sifo, bobabini abazali kufuneka bazuze i-gene eguquliweyo yesifo. Ukuba i-gene izuzwe ngumzali omnye kuphela, umntwana uya kuba ngumthwali kwaye akayi kubonisa zimpawu.

Nangona kunjalo, iintlobo ezimbalwa ezingaqhelekanga, ezifana ne-GSD type IX, zizuzwa njengelifa kwipateni ebizwa ngokuba yi-X-linked inheritance . Oku kuthetha ukuba i-gene yesifo ikwi-chromosome ye-X. Ukuba inkwenkwe izuza eli jini njengelifa, ngokuqinisekileyo iya kuba neempawu.

Ugqirha ufumanisa njani esi sifo kanye kanye?

Ngenxa yokuba i-GSD yimeko engaqhelekanga, kungathatha ixesha ukuyixilonga. Ugqirha kuya kufuneka aqale aqinisekise ukuba azikho ezinye iimeko eziqhelekileyo. Emva kokubuza ngeempawu zomntwana wakho nokumhlola umntwana wakho, ugqirha uya kucebisa iimvavanyo ezininzi.

Ezi zingabandakanya:

• Uvavanyo lweswekile yegazi lokuzila ukutya: Ukujonga amanqanaba eswekile egazini ngaphambi kwesidlo sakusasa. Ukuba amanqanaba eswekile aphantsi kakhulu, oko kusenokuba luphawu lwe-GSD.
• Uvavanyo lwegazi lwe-ketone: Xa umzimba ungakwazi ukusebenzisa i-glucose ukuze ufumane amandla, utshisa amafutha ukuze ufumane amandla. Ngelo xesha, kuveliswa iikhemikhali ezibizwa ngokuba zii-ketones. Amanqanaba e-ketone egazini anokunyuka kubantwana abane-GSD.
• Ukujonga amanqanaba e-cholesterol egazini (i-Lipid panel) kunye namanqanaba e-uric acid: La manqanaba adla ngokunyuka kubantwana abane-GSD.
• Uvavanyo lokusebenza kwesibindi: Olu vavanyo lunceda ekuqinisekiseni ukuba isibindi sonakele na.
• I-ultrasound yesisu: Oku kunceda ekuqinisekiseni ukuba isibindi sikhulu na (i-hepatomegaly).
• Uvavanyo lwemfuza: Le yeyona ndlela ilungileyo yokuqinisekisa isifo. Kuthathwa isampulu yegazi ukujonga utshintsho kwiimfuza ezivelisa ii-enzymes ezinxulumene ne-GSD.

Kwezinye iimeko, ukuze aqiniseke ngokupheleleyo ngesi sifo, ugqirha unokucebisa ukuba kuthathwe iqhekeza elincinci lesicwili esisuka esibindini okanye emsipha ukuze sihlolwe (biopsy) .

Zithini iindlela zokunyanga oku? Ingaba kuyanyangeka ngokupheleleyo?

Ngelishwa, akukho nyango lwe-GSD okwangoku. Kodwa ungakhathazeki.Kukho unyango olusebenzayo kakhulu olunokulawula iimpawu kwaye luncede umntwana aphile ubomi obuqhelekileyo. Iindlela zonyango ziyahluka ngokuxhomekeke kuhlobo lwesifo.

Injongo ephambili kukuthintela ukuba amanqanaba eswekile egazini angabi phantsi ngendlela eyingozi kwaye agcinwe kwinqanaba elizinzileyo.

Nazi ezinye iindlela zonyango:

1. Bondla rhoqo: Ingakumbi abantwana abancinci, bazama ukugcina amanqanaba eswekile egazini labo ezinzile ngokubatyisa rhoqo emva kweeyure ezimbalwa.

2. Ukusetyenziswa kwesitatshi sengqolowa esingaphekwanga: Le yindlela yonyango ebaluleke kakhulu esetyenziswa ekulawuleni i-GSD. Isitatshi sengqolowa sisixa seecarbohydrate esintsonkothileyo esinzima emzimbeni wethu ukusigaya. Ke ngoko, xa i-cornstarch encinci inyibilika emanzini ize isele, ikhupha i-glucose kancinci egazini. Oku kunokugcina inqanaba leswekile egazini lizinzile kangangeeyure ezininzi. Le ndlela iluncedo kakhulu ekuthinteleni iswekile ephantsi egazini ingakumbi ebusuku .

3. Nyanga i-hypoglycemia ngoko nangoko: Kwakuba nje iimpawu ze-hypoglycemia zibonakala, kufuneka unikwe iipilisi zeglucose okanye isiselo esineswekile ukuze ubuyisele ngokukhawuleza amanqanaba eswekile egazini. Ukulibazisa oku kunokukhokelela kwiimeko ezinzulu ezifana nokuxhuzula.

4. Unyango lwezinye iingxaki: Kwiimeko ezifana namanqanaba aphezulu e-cholesterol (hyperlipidemia) kunye namanqanaba aphezulu e-uric acid (hyperuricemia), ugqirha uya kunika amayeza afunekayo (umz. i-allopurinol, ii-statins).

5. Unyango Lokutshintshwa Kwe-Enzyme (ERT): Kwezinye iintlobo ze-GSD, ezifana nesifo sePompe, kukho unyango oluthatha indawo ye-enzyme engekhoyo ngokufakwa kwe-IV. Oku kusafundwa.

6. Ukufakelwa kwesibindi: Kwimeko apho isibindi sonakele kakhulu ngenxa ye-GSD, ukufakelwa kwesibindi kunokufuneka njengenyathelo lokugqibela.

Ziziphi iingxaki ezinokuvela xa uphila nale meko?

Ukuba isifo asifunyanwanga kwangethuba kwaye asilawulwa ngokufanelekileyo, iingxaki ezahlukeneyo zinokubakho. Ezi ziyahluka ngokuxhomekeke kuhlobo lwesifo. Umzekelo, uhlobo lwe-GSD olunganyangwanga I lunokubangela iingxaki ezifana nezi:

• Ukuba buthathaka kwamathambo nokuqhekeka lula (i-osteoporosis)
• Ukufikisa okulibazisekileyo
• Igawuthi
• Isifo sezintso
• Iithumba zesibindi ezingezizo ezomhlaza (ii-hepatic adenomas)
• I-Polycystic Ovary Syndrome (PCOS)
• Amanqanaba eswekile egazini aphantsi rhoqo anokuchaphazela ukusebenza kwengqondo.

Kodwa khumbula, uninzi lwezi ngxaki zinokuthintelwa ngokuxilongwa kwangethuba, unyango olufanelekileyo, kunye nolawulo.

Ingakanani iminyaka yobomi bomntu one-GSD?

Oku kuxhomekeke kuhlobo lwesifo, ukuba sifunyanwa kwangethuba kangakanani, kunye nokuba silawulwa kakuhle kangakanani na. Ezinye iintlobo ezinzima zinokuba yingozi ebuntwaneni. Kodwa kwiintlobo ezininzi, ngonyango olufanelekileyo, ubomi obuqhelekileyo bunokwenzeka. Ugqirha wakho uya kukwazi ukukunika ingcaciso engcono ngemeko yomntwana wakho.

Sifanele siye kugqirha nini?

Ukuba umntwana wakho uhlala ebonisa iimpawu zeswekile ephantsi egazini esizixubushileyo ngaphambili (ukungcangcazela, ukubila, ukuba mdaka), okanye ukuba uvakalelwa kukuba umntwana wakho akakhuli kakuhle okanye unezihlunu ezibuthathaka, qiniseka ukuba ubonana nogqirha wabantwana.

Ngenxa yokuba i-GSD yimeko enzima, kubalulekile ukufuna unyango kugqirha onolwazi olukhethekileyo kule ndawo. Iqela lezonyango lomntwana wakho liza kukuxhasa ngazo zonke iindlela ezinokwenzeka ngeli xesha lohambo.