Bulijjo omwana wo akooye? Alina ssukaali omutono mu musaayi? Kino kiyinza okuba nga kiva ku bulwadde bwa Glycogen Storage Disease (GSD) .

Bulijjo omwana wo omuto awulira ng’akooye era ng’akooye? Omwana wo ayimirira katono ku mabbali ng’abaana abalala ab’emyaka gye gimu badduka ne bazannya? Oba omwana wo akyuka mangu, atuuyana n’okukankana ng’alya? Ng’omuzadde, kyabulijjo okuwulira ng’otya nnyo ng’olaba ebintu bino. Wadde nga wayinza okubaawo ensonga nnyingi eziviirako obubonero obwo, leero tugenda kwogera ku mbeera etali ya bulijjo nnyo naye nga nkulu nnyo ereeta obubonero obwo. Okwo kwe bulwadde bwa Glycogen Storage Disease, oba (GSD) mu bufunze.

Mu ngeri ennyangu, obulwadde bwa Glycogen Storage Disease (GSD) kye ki?

Okay, kino ka tukitegeere mu ngeri ennyangu ennyo. Kuba akafaananyi ng’omubiri gwaffe gulinga mmotoka. Emmotoka yeetaaga petulooli okutambula. Mu ngeri y’emu, omubiri gwaffe gwetaaga amaanyi okukola ebintu bino byonna, okudduka, okubuuka, okulowooza, n’okusaba. Ensibuko y’amaanyi enkulu mu mubiri gwaffe ye glucose , nga eno ye ssukaali yekka. Glucose ono tugifuna mu mmere erimu ebirungo ebiyitibwa carbohydrate bye tulya, gamba ng’omuceere, omugaati n’amatooke.

Kati bwe tulya, omubiri gwaffe gufuna glucose mungi okusinga gwe yeetaaga okufuna amaanyi mu kaseera ako. Kale omubiri gwaffe omugezi gukola ki? Kitereka glucose oyo ow’enjawulo okusobola okukozesebwa oluvannyuma. Kiba ng’okukuuma bbanka y’amasannyalaze ng’ecaajinga ku ssimu yaffe. Engeri eno ey'okutereka glucose eyitibwa glycogen . Glycogen ono asinga kuterekebwa mu kibumba kyaffe n'ebinywa byaffe .

Bwe tutalya, oba bwe tumala amaanyi mangi, gamba nga nga tukola dduyiro, omubiri gwaffe gukyusa glycogen oyo eyatereka n’edda mu glucose ne gugikozesa ng’amaanyi.

Wano enkola eno yonna, kwe kugamba, okukyusa glucose okufuuka glycogen ne glycogen okudda mu glucose, omubiri gwaffe gwetaaga ekika kya protein eky’enjawulo. Tuziyita enzymes . Kiringa okuba n’abakozi abakola mu kkolero.

Obulwadde bwa Glycogen Storage Disease (GSD) mbeera ebaawo nga emu oba eziwera ku enzymes zino teziriiwo oba nga tezikola bulungi mu mubiri gwaffe. Kino kitegeeza nti omubiri tegusobola kutereka bulungi glycogen oba okukozesa glycogen eterekeddwa nga kyetaagisa. Kino kiyinza okuvaako ebizibu nga ssukaali omutono mu musaayi mu ngeri ey’akabi (hypoglycemia) n’okunafuwa kw’ebinywa.

Ebika bya GSD bimeka?

Yee. Nga bwe twayogeddeko emabegako, waliwo ebika by’enziyiza bingi ebikwatibwako mu nkyukakyuka ya glycogen. Kale, waliwo ebika bya GSD bingi okusinziira ku bbula lya buli emu ku enzymes ezo. Ebika ebisoba mu 19 bye bizuuliddwa okutuusa kati. Wadde nga tetumanyi bingi ku byonna, tutegeera bulungi ebimu ku bika ebikulu.

Ebika bya GSD bino okusinga bikosa ekibumba oba ebinywa.. Naye ebika ebimu bisobola n’okuleeta obuzibu mu bitundu by’omubiri ebirala. Abasawo ebika bino babiyita erinnya ly’enziyiza ekwatibwako oba munnasayansi eyasooka okuzuula obulwadde buno. Ku zino, ekisinga okumanyibwa ye GSD type I (GSD type I), era emanyiddwa nga von Gierke disease.

Bubonero ki obukulu obulaga nti omuntu alina GSD? Tukitegeera tutya?

Obubonero bwa GSD buyinza okwawukana okusinziira ku kika ky’obulwadde era ne wakati w’abantu ssekinnoomu abalina ekika kye kimu. Ekika kya GSD ekisinga okumanyibwa, ekika kya I, kitera okutandika okulabika ng’omwana wa myezi esatu oba ena . Kyokka ebika ebimu bisobola okweyoleka n’obubonero oluvannyuma ennyo, oluusi ne mu myaka emito.

Obubonero bubiri obukulu era obusinga okulabika bwe buno:

1. Ssukaali omutono mu musaayi (hypoglycemia) .

2. Okukoowa amangu nga okola dduyiro oba ng’ozannya (exercise intolerance) .

Katutunuulire obubonero buno mu bujjuvu katono.

Lwaki GSD ekulaakulana? Ddala bulwadde bwa nsikirano?

Yee, GSD bulwadde bwa nsikirano ddala . Kino kitegeeza nti obulwadde buno buva ku nkyukakyuka mu buzaale obusikira abazadde okutuuka ku baana.

GSD ezisinga zisikira mu nkola ya autosomal recessive . Mu ngeri ennyangu, kino kitegeeza nti omwana okusobola okufuna obulwadde buno, abazadde bombi balina okusikira obuzaale obukyusiddwa olw’obulwadde buno. Singa obuzaale busikira okuva mu muzadde omu yekka, omwana ajja kuba musitula era tajja kulaga bubonero.

Naye ebika ebitonotono ebitali bimu nnyo, nga GSD ekika IX, bisikira mu nkola eyitibwa X-linked inheritance . Kino kitegeeza nti obuzaale bw’obulwadde buno buli ku X chromosome. Singa omulenzi asikira obuzaale buno, mazima ddala ajja kufuna obubonero.

Omusawo azuula atya ddala obulwadde buno?

Olw’okuba GSD mbeera etali ya bulijjo, kiyinza okutwala akaseera okuzuula. Omusawo ajja kusooka kwetaaga okukakasa nti tewali mbeera ndala za bulijjo. Oluvannyuma lw’okubuuza ku bubonero bw’omwana wo n’okukebera omwana wo, omusawo ajja kutera okukuwa amagezi okukeberebwa okuwerako.

Mu bino biyinza okuli:

• Okukebera ssukaali mu musaayi mu kisiibo: Okukebera ssukaali mu musaayi nga tonnalya kyankya. Singa ssukaali abeera wansi nnyo, kiyinza okuba akabonero ka GSD.
• Okukebera omusaayi gwa ketone: Omubiri bwe gutasobola kukozesa glucose okufuna amaanyi, gwokya amasavu okufuna amaanyi. Mu kiseera ekyo, eddagala eriyitibwa ketones likolebwa. Omuwendo gwa ketone mu musaayi guyinza okulinnya mu baana abalina GSD.
• Okukebera kolesterol mu musaayi (Lipid panel) ne uric acid: Emiwendo gino gitera okulinnya mu baana abalina GSD.
• Okukebera enkola y’ekibumba: Okukebera kuno kuyamba okuzuula oba ekibumba kyonoonese.
• Okukebera eddoboozi mu lubuto: Kino kiyamba okuzuula oba ekibumba kigaziye (hepatomegaly).
• Okukebera obuzaale: Eno y’engeri esinga okukakasa obulwadde. Omusaayi gutwalibwa okukebera oba waliwo enkyukakyuka mu buzaale obukola enziyiza ezikwatagana ne GSD.

Mu mbeera ezimu, okusobola okukakasa 100% ku kizuuliddwa, omusawo ayinza okukuwa amagezi okuggya akatundu akatono okuva mu kibumba oba ekinywa okwekebejjebwa (biopsy) .

Bujjanjabi ki obukolebwa ku kino? Kiwonyezebwa ddala?

Ebyembi, tewali ddagala lya GSD n’okutuusa kati. Naye teweeraliikiriranga.Waliwo obujjanjabi obulungi ennyo obusobola okufuga obubonero n’okuyamba omwana okubeera n’obulamu obwa bulijjo. Enkola z’obujjanjabi zaawukana okusinziira ku kika ky’obulwadde.

Ekigendererwa ekikulu kwe kutangira ssukaali mu musaayi okukka wansi mu ngeri ey’akabi n’okumukuuma ng’ali ku mutindo ogutebenkedde.

Wano waliwo enkola z’obujjanjabi:

1. Liisa nnyo: Naddala abaana abato, bagezaako okukuuma ssukaali mu musaayi nga mutebenkevu nga babaliisa buli luvannyuma lwa ssaawa ntono.

2. Okukozesa Cornstarch Atafumbiddwa: Eno nkola nkulu nnyo ey’okujjanjaba ekozesebwa mu kuddukanya GSD. Cornstarch kirungo kya carbohydrate ekizibu era kizibu omubiri gwaffe okugaaya. N’olwekyo, akatono ka kasooli bwe kasaanuusibwa mu mazzi ne kanywa, kafulumya mpola glucose mu musaayi. Kino kiyinza okukuuma ssukaali mu musaayi nga takyukakyuka okumala essaawa eziwera. Enkola eno eyamba nnyo mu kuziyiza sukaali okukendeera naddala ekiro .

3. Okujjanjaba amangu sukaali omutono: Amangu ddala ng’obubonero bw’okukendeera kwa sukaali bulabika, olina okuweebwa empeke za glucose oba ekyokunywa ekirimu ssukaali okuzzaawo amangu ssukaali mu musaayi. Kino okulwawo kiyinza okuvaako embeera ez’amaanyi ng’okukonziba.

4. Obujjanjabi bw’ebizibu ebirala: Ku mbeera nga kolesterol omungi (hyperlipidemia) ne uric acid omungi (hyperuricemia), omusawo ajja kukuwa eddagala eryetaagisa (e.g. allopurinol, statins).

5. Enzyme Replacement Therapy (ERT): Ku bika bya GSD ebimu, gamba nga Pompe disease, waliwo obujjanjabi obukyusa enzyme ebuze nga buyita mu IV infusion. Kino kikyasomesebwa.

6. Okukyusa ekibumba: Mu mbeera ng’ekibumba kyonoonese ennyo olw’obulwadde bwa GSD, kiyinza okwetaagisa okukyusa ekibumba ng’ekisembayo.

Bizibu ki ebiyinza okuvaamu ng’obeera n’embeera eno?

Singa obulwadde buno tebuzuulibwa nga bukyali ne buddukanyizibwa obulungi, ebizibu eby’enjawulo bisobola okubaawo. Bino nabyo byawukana okusinziira ku kika ky’obulwadde. Okugeza, GSD type I etajjanjabiddwa esobola okuleeta obuzibu nga:

• Okunafuwa kw’amagumba n’okumenya amangu (osteoporosis) .
• Okulwawo okutuuka mu myaka gy’obuvubuka
• Gaasi
• Obulwadde bw’ekibumba
• Ebizimba by’ekibumba ebitali bya kookolo (hepatic adenomas) .
• Obulwadde bw’enkwaso eziyitibwa Polycystic Ovary Syndrome (PCOS) .
• Ssukaali omutono ennyo mu musaayi kiyinza okukosa enkola y’obwongo.

Naye jjukira nti ebizibu bino bingi bisobola okuziyizibwa singa obizuulibwa amangu, okujjanjabibwa obulungi, n’okubijjanjaba.

Omuntu alina GSD awangaala ki?

Kino kisinziira ku kika ky’obulwadde, engeri gye buzuulibwamu amangu, n’engeri gye buddukanyizibwamu obulungi. Ebika ebimu eby’amaanyi bisobola okutta omuntu mu buwere. Naye mu bika ebisinga obungi, singa omuntu afuna obujjanjabi obutuufu, obulamu obwa bulijjo busoboka. Omusawo wo ajja kusobola okukunnyonnyola obulungi ku mbeera y’omwana wo.

Ddi lwe tusaanidde okulaba omusawo?

Omwana wo bw’aba alaga buli kiseera obubonero bwa sukaali omutono bwe twayogeddeko emabegako (okukankana, okutuuyana, okuddugala), oba bw’oba ​​owulira ng’omwana wo takula bulungi oba ng’ebinywa binafu, kakasa nti ogenda ew’omusawo w’abaana.

Olw’okuba GSD mbeera nzibu, kikulu okunoonya obujjanjabi okuva eri omusawo alina okumanya okw’enjawulo mu kitundu kino. Ttiimu y’abasawo b’omwana wo ejja kukuwagira mu buli ngeri esoboka mu lugendo luno.