Olumwa ebinywa ne bw’oba ​​omaze okukola dduyiro omutono? Kino kiyinza okuba nga kya McArdle Disease!

Naawe oluusi owulira obulumi n’okunafuwa ng’okola dduyiro oba ng’okola ekintu ekyetaagisa okufuba okutono, nedda? Ekyo kya bulijjo. Naye abantu abamu embeera eno esusse katono. Ne bw’okola ekintu ekitono kikukooya mangu, n’ebinywa byo bikuluma n’okunywezebwa. Leero tugenda kwogera ku mbeera etali ya bulijjo naye nga nkulu nnyo gye tulina okumanya. Kino kiyitibwa obulwadde bwa McArdle, oba `obulwadde obutereka glycogen ekika kya 5 (GSD5)`.

Obulwadde bwa McArdle kye ki?

Mu ngeri ennyangu, obulwadde bwa McArdle mbeera ya buzaale etambulira mu maka gaffe . Okusinga kikosa ebinywa byo eby'amagumba . Kwe kugamba, ebinywa bye tukozesa okutambula, okusitula ebintu, n’okutambula.

Obulwadde buno buva ku bbula oba obutabaawo ddala enzyme ey’enjawulo mu binywa byaffe eyitibwa `muscle glycogen phosphorylase` oba `myophosphorylase`. Enziyiza eno bw’eba tebiriiwo ddala, ebinywa byaffe tebisobola kukola maanyi ageetaagisa. Eno y’ensonga lwaki obubonero ng’okulumwa ebinywa, okukaluba n’obukoowu bulabika nga tukola dduyiro oba nga tukooye.

Obubonero butera okutandika okulabika oluvannyuma lw’emyaka 15-20, oba mu myaka 20 oba 30 . Kyokka oluusi kiyinza okulabika ku myaka gyonna. Obulwadde buno butuumiddwa "McArdle" erinnya lya Dr. Brian McArdle, eyasooka okubuloopa mu 1951.

Obulwadde buno butera kwenkana wa?

Obulwadde bwa McArdle mu butuufu mbeera etali ya bulijjo nnyo . Okusinziira ku banoonyereza, bukwata wakati w’omuntu omu ku buli 50,000 n’omu ku buli 200,000 mu Amerika.

Obubonero bwe buliwa?

Obubonero bw’obulwadde buno busobola okwawukana ennyo okusinziira ku muntu. Abantu abamu bayinza okufuna obubonero obutono ennyo, ate abalala bayinza okukosebwa ennyo.

Akabonero akakulu era akasinga okulabika kwe butagumiikiriza dduyiro, ekitegeeza okuwulira ng’okooye mangu ng’okola emirimu gy’omubiri . Obubonero obulala bwe buno:

• Okuzimba ebinywa
• Obunafu
• Obukoowu
• Obulumi mu binywa
• Okukaluba kw’ebinywa

Obubonero buno bwonna busobola okulabika amangu ddala ng’otandise okukola dduyiro. Naye zitera okukka oluvannyuma lw'okuwummulako akaseera katono . Ekyewuunyisa, abantu abamu bakizuula nti oluvannyuma lw’okusooka okuwulira obukoowu, singa bawummulako akaseera katono ate ne baddamu okukola dduyiro y’emu, basobola okukikola obulungi okusinga bwe kyali edda. Kino kiyitibwa "empewo ey'okubiri." Kiringa okuba n’empewo ey’okubiri. Bw’otokola dduyiro, ebiseera ebisinga towulira bubonero bwonna.

Oyinza okusobola okukola dduyiro omutono era omugonvu, gamba ng’okutambulira ku ttaka eritereevu, nga tolina buzibu bwonna. Kyokka, okukola emirimu gy’omubiri ennyo kiyinza okuleeta amangu obubonero. Okusingira ddala, dduyiro azingiramu okukwata ebinywa mu kifo nga totambula, gamba nga dduyiro wa isometric , okufukamira, n’okuyimirira ku bigere, asobola okwonoona ebinywa. Lowooza ku buzibu bw’owulira ng’ositula ssiringi ya ggaasi oba ng’ositula ensawo enzito.

Kino kisobola okuleetawo ebizibu eby’amaanyi? (Ebizibu ebivaamu)

Yee, oluusi ebizibu eby’amaanyi bisobola okubaawo. Nga kitundu ku bantu abalina obulwadde bwa McArdle bafuna embeera eyitibwa `rhabdomyolysis` oluvannyuma lw'okukola dduyiro ow'amaanyi . Wano ebinywa we bimenyeka.

Rhabdomyolysis mbeera ya maanyi, etta obulamu era eyinza okuvaako ekibumba okulemererwa mu bwangu (acute kidney failure) n’obungi bwa potassium mu musaayi mu ngeri ey’akabi (hyperkalemia).

N’olwekyo, olina okwegendereza ennyo engeri gy’okola dduyiro n’engeri gy’okolamu dduyiro. Kino kijja kuyamba okuziyiza embeera ya `rhabdomyolysis`. Bw’ofuna obubonero bwonna ng’okuzimba ebinywa, omusulo omuddugavu (ogwa kitaka, omumyufu, ogwa caayi) , olina okugenda mu basawo amangu ddala .

Lwaki kino kigenda mu maaso? Ensonga ki eziviirako kino?

Obulwadde bwa McArdle mbeera ya buzaale . Okusingira ddala, kiva ku nkyukakyuka mu ggiini `PYGM`. Mu budde obwabulijjo, obuzaale buno obwa `PYGM` bulagira omubiri gwaffe okukola enziyiza eyitibwa `myophosphorylase`.

Enziyiza eno esangibwa mu butoffaali bwaffe obw’ebinywa by’amagumba bwokka. Kimenyaamenya glycogen (ssukaali aterekeddwa) mu binywa n’afuuka glucose-1-phosphate. Olwo glucose-1-phosphate ono ayongera okukyusibwa okufuuka glucose. Glucose ye nsibuko y’amaanyi amakulu mu mubiri gwaffe . Bwe tukola dduyiro, ebinywa byaffe bikozesa nnyo glucose ono.

Kati, enziyiza ya `myophosphorylase` bw’ekolebwa kitono oba netakolebwa n’akatono olw’enkyukakyuka mu ggiini ya `PYGM`, obutoffaali bwaffe obw’ebinywa tebusobola kumenya bulungi `glycogen` ne bukola amaanyi (`glucose`). Eno y’ensonga lwaki ebinywa bikoowa mangu.

Abanoonyereza okutuusa kati bazudde enjawulo (enjawulo) 179 ez’enjawulo ezikosa obuzaale bwa `PYGM`.

Engeri obulwadde bwa McArdle gye busikira

Osikira obulwadde okuva mu bazadde bo abazaala, mu nkola ya ``autosomal recessive`` . Mu ngeri ennyangu, abazadde bombi balina okuba ``abatwala`` obuzaale obukyusiddwa, ekitegeeza nti bombi balina obuzaale okumpi.Abasitula obulwadde buno ebiseera ebisinga tebalaga bubonero. Kyokka singa abazadde bombi baba basitula era bombi ne bayisa obuzaale obwo obukyusiddwa eri abaana baabwe, obulwadde buno bubaawo.

Abasawo kino bakizuula batya? (Okuzuula obulwadde)

Abasawo okusinga bakozesa okukebera dduyiro w’omukono ogw’omu maaso okuzuula obulwadde buno. Kino kizingiramu okutwala omusaayi nga tonnaba kukola dduyiro mutono n’omukono gwo ogw’omu maaso n’oluvannyuma lw’okukola dduyiro. Okusingira ddala, batunuulira emiwendo gya `lactic acid` ne `ammonia` .

Mu budde obwabulijjo, asidi wa lactic alina okweyongera emirundi nga esatu oluvannyuma lw’okukola dduyiro. Wabula singa asidi wo ow’omubisi gw’enjuki tegulinnya mu kukebera kuno, kabonero akalaga nti oyinza okuba n’obulwadde bwa McArdle.

Waliwo okukebera okulala okuyinza okuyamba okukakasa obulwadde buno:

• Okukebera omusaayi ogwa Creatine kinase (CK): Ebinywa bwe byonooneddwa, enziyiza eyitibwa creatine kinase (CK) ezimba mu musaayi. Abantu abalina obulwadde bwa McArdle bayinza okuba n’emiwendo gya CK egy’amaanyi buli kiseera.
• Graded exercise stress test: Kino kiyinza okugezesa ekintu ekimanyiddwa nga "empewo eyokubiri." Omusawo ajja kukuleetera okukola dduyiro emirundi mitono, owummuleko wakati, alabe oba osobola okukola dduyiro obulungi ng’omaze okuwummula.
• Muscle biopsy: Mu kukebera kuno, omusawo akwata akatundu akatono ku binywa byo eby’amagumba n’abiweereza mu laabu okutunulwamu mu microscope. Omukugu mu by’endwadde atunuulira ebitundu by’omubiri okulaba oba waliwo obubonero bwonna obulaga obulwadde bwa McArdle.
• Okukebera obuzaale: Kino kiyinza okusobola okuzuula enkyukakyuka y’obuzaale entongole ereeta obulwadde bwa McArdle.

Kiki kye tuyinza okukola ku nsonga eno? (Obujjanjabi)

Ebyembi, tewali ddagala liwonya bulwadde bwa McArdle. Obujjanjabi obukulu kwe kwewala emirimu egikusajjula obubonero. Kyokka n’obutakola mirimu gya mubiri n’akatono nakyo si kirungi eri obulamu bwo.

Okunoonyereza kulaga nti obujjanjabi obw’amaanyi obw’ekigero, obw’okukola dduyiro obuyitibwa aerobic exercise buyinza okuba obw’omugaso eri abantu abalina obulwadde bwa McArdle. Abantu abakola dduyiro ow'ekika kino bakendeezezza nnyo ku butagumiikiriza dduyiro, era basobola n'okufuna "empewo eyo eyokubiri" amangu mu kiseera ky'okukola dduyiro. Osobola okukolagana n’omusawo wo n’omusawo w’omubiri okukufunira enteekateeka y’obujjanjabi bw’okukola dduyiro esinga obulungi.

Ekirala, emmere erimu ebirungo ebiyitibwa carbohydratesOkunoonyereza kulaga nti okugimira nakyo kisobola okukendeeza ku buzibu bw’obubonero obubeerawo nga bakola dduyiro. Kino kiyamba ebinywa byo okukozesa glucose (ssukaali) mu musaayi gwo mu kifo kya glycogen okusobola okufuna amaanyi. Omusawo wo oba omukugu mu by’emmere eyawandiisibwa asobola okukuwa amagezi ku nteekateeka y’emmere nga eno:

• Ebitundu 65% ku kalori zo eza buli lunaku zirina okuva mu birungo ebizibu (complex carbohydrates) (okuva mu bintu ng’enva endiirwa, ebibala, omugaati, pasta, n’omuceere).
• Ebitundu 20% ku kalori okuva mu masavu .
• Ebitundu 15% ku kalori okuva mu puloteyina .

Era kiyinza okuyamba okunywa ssukaali omunyangu, gamba ng’ekyokunywa eky’emizannyo ekirimu ssukaali, ng’ebula mbale okole dduyiro.

Kiba kitya okubeera ne kino?

Abantu abasinga abalina obulwadde bwa McArdle babeera mu bulamu obwa bulijjo . Abantu abamu bayinza okufuna obunafu obutasalako n’okukendeera kw’ebinywa (`atrophy`) nga bakuze, ebiseera ebisinga mu myaka gyabwe egy’obukulu 60 oba 70.

Ekisinga obukulu kwe kumanya obubonero bw’embeera ya `rhabdomyolysis` eyogeddwako waggulu n’okugiziyiza okubaawo nga bwe kisoboka, kubanga bwe buzibu obusinga okuva mu bulwadde buno.

Omuntu alina obulwadde buno awangaala ki?

Obulwadde bwa McArdle butera obutakosa bulamu bwa bulamu .

Naye, si bulijjo nnyo, waliwo embeera eyitibwa `infantile McArdle syndrome` , ejja kumpi amangu ddala nga bamaze okuzaalibwa. Kino kitta – obubonero buba bwa maanyi era bweyongera mangu.

Obulwadde bwa McArdle busobola okuziyizibwa?

Okuva bwe kiri nti eno embeera ya buzaale, tewali kye tuyinza kukola kugiziyiza .

Bw’oba ​​weeraliikirira akabi k’okusikira obulwadde bwa McArdle oba obuzibu obulala obw’obuzaale nga tonnazaala, kirungi okwogera n’omusawo wo ku kubudaabudibwa ku buzaale .

Ddi lwe nnina okulaba omusawo?

Singa obubonero bwo bweyongera okusajjuka, oba singa obusobozi bwo okukola emirimu gyo egy’omubiri egya bulijjo bukyuka, laba omusawo.

Era oyinza okwetaaga okulaba omusawo w‟omubiri ne/oba omukugu mu by‟endya buli kiseera okukulambika ku nteekateeka yo ey‟obujjanjabi.

Ddi lw’osaanidde okugenda mu kitongole ekijjanjaba abalwadde ab’amangu (ETU) ?

Bwoba olina obubonero bwa `rhabdomyolysis`, olina okugenda mu kisenge eky'amangu (ETU) amangu ddala nga bwe kisoboka . Obubonero buno bwe buno:

• Okuzimba ebinywa
• Obunafu bw’ebinywa
• Okulumwa n’okulumwa ng’okwata ku binywa
• Omusulo omuddugavu (ogwa kitaka, omumyufu, ogwa langi ya caayi) .
• Okubulwa amazzi mu mubiri
• Okukendeera kw’okufulumya omusulo
• Ekikeeto
• Okufiirwa okutegeera

Obulwadde bwa McArdle buyinza okukaluubiriza okukola emirimu egimu egy’omubiri. Naye amawulire amalungi gali nti,Kiddukanyizibwa era tekirina kinene kye kikwata ku bulamu bwo okutwalira awamu. Omusawo wo ajja kukolagana naawe okukufunira enteekateeka y’obujjanjabi esinga obulungi gy’oli.

Obubaka Obutwala Awaka

Okay, kale ka tukujjukize ebintu ebitonotono bye twogeddeko bye tulowooza nti bikulu gy’oli:

Obulwadde bwa McArdle mbeera ya buzaale ereetebwa obutaba na enzyme eyamba ebinywa okukola amaanyi.

Obubonero obukulu kwe kukoowa amangu, okulumwa ebinywa n’okuyiringisibwa ng’okola dduyiro.

Beera mwegendereza ekizibu eky'amaanyi ekiyitibwa `rhabdomyolysis`. Bw’ofuna obubonero buno, laba omusawo mu bwangu.

Wadde nga tewali ddagala lya njawulo eriwonya kino, kisobola okuddukanyizibwa obulungi era obulamu obwa bulijjo busobola okukulemberwa nga olina dduyiro n’endya entuufu.

Bw’oba ​​olina ekibuuzo ekirala kyonna ku nsonga eno, tolwawo kwogera na musawo wo.

Jjukira nti toli wekka. Bw’oba ​​olina okumanya okutuufu n’obuwagizi, osobola okugumira embeera eno.

` Obulwadde bwa McArdle, GSD5, Obulwadde bwa McArdle, Obulumi bw’ebinywa, Dduyiro, Obulwadde bw’obuzaale, Glycogen, Myophosphorylase, Rhabdomyolysis, Obutagumira dduyiro