Thayipha i-V glycogen isifo sokugcina

Uhlobo lwe-V (emihlanu) lwesifo sokugcina i-glycogen (GSD V) yisimo esingajwayelekile esizuzwe njengefa lapho umzimba ungakwazi ukwehlisa i-glycogen. IGlycogen ingumthombo obalulekile wamandla ogcinwa kuzo zonke izicubu, ikakhulukazi emisipheni nasesibindi.

I-GSD V ibizwa nangokuthi isifo seMcArdle.

I-GSD V ibangelwa isici esakhiweni esenza i-enzyme ebizwa nge-muscle glycogen phosphorylase. Ngenxa yalokhu, umzimba awukwazi ukwehlisa i-glycogen emisipheni.

I-GSD V iyi-autosomal recessive genetic disorder. Lokhu kusho ukuthi kufanele uthole ikhophi lohlobo olungasebenziyo kubo bobabili abazali. Umuntu othola isakhi sofuzo esingasebenzi kumzali oyedwa kuphela imvamisa akabi naso lesi sifo. Umlando womndeni we-GSD V ukwandisa ubungozi.

Izimpawu zivame ukuqala ngesikhathi sobuntwana. Kepha, kungaba nzima ukuhlukanisa lezi zimpawu kulezo zobuntwana obujwayelekile. Ukuxilongwa kungenzeka kungenzeki kuze kube yilapho umuntu eseneminyaka engaphezu kwengama-20 noma engama-30 ubudala.

• Umchamo onemibala yaseBurgundy (myoglobinuria)
• Ukukhathala
• Ukuzivocavoca umzimba, amandla amabi
• Amajaqamba emisipha
• Ubuhlungu bemisipha
• Ukuqina kwemisipha
• Ubuthakathaka bemisipha

Ukuhlolwa okulandelayo kungenziwa:

• I-Electromyography (EMG)
• Ukuhlolwa kofuzo
• I-Lactic acid egazini
• I-MRI
• Imisipha biopsy
• I-Myoglobin emchameni
• I-Plasma ammonia
• I-serum creatine kinase

Akukho ukwelashwa okuqondile.

Umhlinzeki wezokunakekelwa kwempilo angaphakamisa okulandelayo ukuze uhlale usebenza futhi unempilo futhi uvimbele izimpawu:

• Qaphela ukulinganiselwa kwakho ngokomzimba.
• Ngaphambi kokuzivocavoca, zifudumale kahle.
• Gwema ukuzivocavoca kanzima noma isikhathi eside kakhulu.
• Yidla amaprotheni anele.

Buza umhlinzeki wakho uma kuwumqondo omuhle ukudla ushukela ngaphambi kokuzivocavoca. Lokhu kungasiza ukuvimbela izimpawu zemisipha.

Uma udinga ukuhlinzwa, cela umhlinzeki wakho ukuthi KULUNGILE yini ukuthi ube ne-anesthesia ejwayelekile.

Amaqembu alandelayo anganikeza imininingwane eminingi nezinsizakusebenza:

• Inhlangano Yezifo Zokulondolozwa KweGlycogen - www.agsdus.org
• Inhlangano Kazwelonke Yezinkinga Zezifo Ezingajwayelekile - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Abantu abane-GSD V bangaphila impilo ejwayelekile ngokulawula indlela abadla ngayo kanye nokusebenza komzimba.

Ukuzivocavoca umzimba kungaveza ubuhlungu bemisipha, noma ngisho nokuwohloka kwemisipha yamathambo (rhabdomyolysis). Lesi simo sihambisana nomchamo onombala we-burgundy kanye nengozi yokwehluleka kwezinso uma sinzima.

Xhumana nomhlinzeki wakho uma uphindaphinde iziqephu zemisipha ebuhlungu noma eminyene ngemuva kokuzivocavoca, ikakhulukazi uma une-burgundy noma i-pink urine.

Cabanga ngokwelulekwa ngezakhi zofuzo uma unomlando womndeni we-GSD V.

Ukuntuleka kwe-Myophosphorylase; Ukushoda kwemisipha ye-glycogen phosphorylase; Ukushoda kwe-PYGM

I-Akman HO, i-Oldfors A, i-DiMauro S. Izifo zokugcina izicubu zomzimba. Ku: Darras BT, Jones HR, Ryan MM, De Vivo DC, ama-eds. Ukuphazamiseka kweNeuromuscular of Childhood, Ubuntwana, nobusha. Okwesibili. I-Waltham, MA: I-Elsevier Academic Press; 2015: isahluko 39.

IBrandow AM. Ukukhubazeka kwe-Enzymatic. Ku: Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Incwadi kaNelson Yezingane. Umhlaka 21. IPhiladelphia, PA: Elsevier; 2020: isahluko 490.

Weinstein DA. Izifo zokugcina i-Glycogen. Ku: IGoldman L, iSchafer AI, ama-eds. Imithi yeGoldman-Cecil. Umhla ka-26. IPhiladelphia, PA: Elsevier; 2020: isahluko 196.