Uhlobo lwe-V lwe-glycogen isifo sokugcina

Uhlobo lwe-V (ezintlanu) isifo sokugcina isifo se-glycogen (GSD V) yimeko enqabileyo njengelifa apho umzimba ungenakho ukwaphula i-glycogen. IGlycogen ngumthombo obalulekileyo wamandla ogcinwe kuzo zonke izicubu, ngakumbi izihlunu kunye nesibindi.

I-GSD V ikwabizwa ngokuba sisifo seMcArdle.

I-GSD V ibangelwa sisiphene kwimfuza esenza i-enzyme ebizwa ngokuba yimisipha glycogen phosphorylase. Ngenxa yoko, umzimba awukwazi ukuphula i-glycogen kwiimisipha.

I-GSD V sisifo se-autosomal recessive genetic disorder. Oku kuthetha ukuba kuya kufuneka ufumane ikopi yohlobo olungasebenziyo kubo bobabini abazali. Umntu ofumana ufuzo olungasebenziyo kumzali omnye kuphela akayiphuhlisi le syndrome. Imbali yosapho ye-GSD V yonyusa umngcipheko.

Iimpawu zihlala ziqala kwasebusaneni. Kodwa, kunokuba nzima ukwahlula ezi mpawu kwezo zobuntwana obuqhelekileyo. Uxilongo alunakwenzeka de umntu abe ngaphezu kweminyaka engama-20 okanye engama-30 ubudala.

• Umchamo wombala weBurgundy (myoglobinuria)
• Ukudinwa
• Ukunganyamezelani komzimba, amandla amabi
• Iintlanzi zemisipha
• Intlungu yezihlunu
• Ukuqina kwemisipha
• Ubuthathaka bemisipha

Olu vavanyo lulandelayo lunokwenziwa:

• Umbane we-Electromyography (EMG)
• Uvavanyo lwemfuzo
• Lactic acid egazini
• IMRI
• Imisipha biopsy
• I-Myoglobin kumchamo
• Iplasma ammonia
• Iserum creatine kinase

Akukho lonyango luthile.

Umboneleli wezempilo unokucebisa oku kulandelayo ukuze uhlale usebenza kwaye usempilweni kwaye uthintele iimpawu:

• Zazi iintsilelo zakho.
• Ngaphambi kokuzilolonga, shushu kancinci.
• Kuphephe ukuzilolonga kakhulu okanye ixesha elide.
• Yitya iiprotein ezaneleyo.

Buza umboneleli wakho ukuba ngaba yinto efanelekileyo yokutya iswekile ngaphambi kokuzivocavoca. Oku kunokunceda ukukhusela iimpawu zemisipha.

Ukuba ufuna utyando, buza umboneleli wakho ukuba kulungile ukuba ube neanesthesia ngokubanzi.

La maqela alandelayo anokubonelela ngolwazi oluthe kratya kunye nezixhobo:

• Umbutho weSifo seGlycogen sokuGcina- www.agsdus.org
• Umbutho weSizwe weziNto eziNqabileyo zeZifo- rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Abantu abane-GSD V banokuphila ubomi obuqhelekileyo ngokulawula ukutya kwabo kunye nokusebenza komzimba.

Ukuzivocavoca umzimba kunokuvelisa iintlungu zemisipha, okanye nokonakala kwemisipha (rhabdomyolysis). Le meko inxulunyaniswa nomchamo wombala we-burgundy kunye nomngcipheko wokusilela kwezintso ukuba kunzima.

Nxibelelana nomboneleli wakho ukuba uphindaphinde iziqendu zesisu esibuhlungu okanye esincinci emva kokuzivocavoca, ngakumbi ukuba une-burgundy okanye ipinki yomchamo.

Cinga ngokucebisa ngemfuza ukuba unembali yosapho ye-GSD V.

Ukusilela kwe-Myophosphorylase; Ukunqongophala kwemisipha ye-glycogen phosphorylase; Ukusilela kwePYGM

UAkman HO, uOldfors A, uDiMauro S.Izifo zokugcina izihlunu zeGlycogen. Ku: Darras BT, Jones HR, Ryan MM, De Vivo DC, ii-eds. Ukuphazamiseka kwi-Neuromuscular of Childhood, Ubuntwana, kunye nokufikisa. Ngomhla wesi-2. I-Waltham, MA: I-Elsevier yezeMfundo; 2015: isahluko 39.

IBrandow AM. Iziphene ze-Enzymatic. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, ii-eds. Incwadi kaNelson yeNcwadi yePediatrics. Umhla wama-21. IPhiladelphia, PA: Elsevier; 2020: isahluko 490.

Weinstein DA. Izifo zokugcina i-Glycogen. Ku: IGoldman L, iSchafer AI, ii-eds. Amayeza eGoldman-Cecil. Ngomhla wama-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 196.