Mofuta oa V oa lefu la polokelo ea glycogen

Mofuta oa V (hlano) lefu la polokelo ea glycogen (GSD V) ke boemo bo sa tloaelehang bo futsitsoeng boo 'mele o sa khoneng ho senya glycogen. Glycogen ke mohloli oa bohlokoa oa matla o bolokiloeng lithong tsohle, haholo-holo mesifa le sebete.

GSD V e boetse e bitsoa lefu la McArdle.

GSD V e bakoa ke phoso ea lefutso e etsang enzyme e bitsoang mesifa ea glycogen phosphorylase. Ka lebaka leo, 'mele o ke ke oa senya glycogen ka har'a mesifa.

GSD V ke boloetse bo fetelletseng ba liphatsa tsa lefutso. Sena se bolela hore o tlameha ho amohela kopi ea lefutso le sa sebetseng ho batsoali ka bobeli. Motho ea fumanang lefutso le sa sebetseng ho motsoali a le mong hangata ha a be le lefu lena. Nalane ea lelapa ea GSD V e eketsa kotsi.

Matšoao a atisa ho qala bongoaneng. Empa, ho ka ba thata ho arola matšoao ana ho a bongoana bo tloaelehileng. Tlhahlobo e ka 'na ea se ke ea etsahala ho fihlela motho a le lilemo tse fetang 20 kapa 30.

• Moroto o mmala oa Burgundy (myoglobinuria)
• Mokhathala
• Ho se mamellane, mokoka o fokolang
• Maqhubu a mesifa
• Bohloko ba mesifa
• Ho thatafala ha mesifa
• Bofokoli ba mesifa

Liteko tse latelang li ka etsoa:

• Electromyography (EMG)
• Ho etsa liteko tsa lefutso
• Lactic acid e maling
• MRI
• Biopsy ea mesifa
• Myoglobin ka morong
• Plasma ammonia
• Serum creatine kinase

Ha ho na kalafo e khethehileng.

Mofani oa tlhokomelo ea bophelo a ka fana ka tlhahiso ea tse latelang ho lula li le mafolofolo le ho phela hantle 'meleng le ho thibela matšoao:

• Ela hloko mefokolo ea hao ea 'mele.
• Pele u ikoetlisa, futhumala hantle.
• Qoba ho ikoetlisa ka thata haholo kapa nako e telele haholo.
• Ja liprotheine tse lekaneng.

Botsa mofani oa hau hore na ke mohopolo o motle ho ja tsoekere pele u ikoetlisa. Sena se ka thusa ho thibela matšoao a mesifa.

Haeba u hloka ho etsoa opereishene, botsa mofani oa thepa ea hau hore na ho lokile hore u be le anesthesia e akaretsang.

Lihlopha tse latelang li ka fana ka tlhaiso-leseling e batsi le lisebelisoa:

• Mokhatlo oa Maloetse a Glycogen Storage - www.agsdus.org
• Mokhatlo oa Naha oa Mathata a Rare a Mafu - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Batho ba nang le GSD V ba ka phela bophelo bo tloaelehileng ka ho laola tsela eo ba jang ka eona le ho ikoetlisa.

Ho ikoetlisa ho ka hlahisa bohloko ba mesifa, kapa esita le ho senyeha ha mesifa ea masapo (rhabdomyolysis). Boemo bona bo amahanngoa le moroto o mmala oa burgundy le kotsi ea ho hloleha ha liphio haeba e le matla.

Ikopanye le mofani oa hau haeba u pheta linako tse bohloko kapa tse patisaneng kamora ho ikoetlisa, haholo haeba u na le moroto oa burgundy kapa pinki.

Nahana ka tlhabollo ea liphatsa tsa lefutso haeba u na le nalane ea lelapa ea GSD V.

Ho haella ha Myophosphorylase; Khaello ea mesifa ea glycogen phosphorylase; Ho haella ha PYGM

Akman HO, Oldfors A, DiMauro S. Maloetse a polokelo ea mesifa ea Glycogen. Ka: Darras BT, Jones HR, Ryan MM, De Vivo DC, bahlophisi. Mathata a Neuromuscular ho tloha boseeng, bongoaneng le bocha. Lekhetlo la bobeli. Waltham, MA: Khatiso ea Litaba tsa Elsevier; 2015: khaolo ea 39.

Brandow AM. Liphoso tsa enzyme. Ka: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, bahlophisi. Buka ea Nelson ea Pediatrics. La 21 Ed. Philadelphia, PA: Elsevier; 2020: khaolo ea 490.

Weinstein DA. Maloetse a polokelo ea Glycogen. Ka: Goldman L, Schafer AI, li-eds. Phekolo ea Goldman-Cecil. La 26th. Philadelphia, PA: Elsevier; 2020: khaolo ea 196.