Nooca V kaydinta cudurka glycogen

Nooca V (shan) cudurka kaydinta glycogen (GSD V) waa xaalad naadir ah oo la iska dhaxlo oo jidhku aanu awood u lahayn inuu jebiyo glycogen. Glycogen waa il muhiim ah oo tamar ka kaydsan dhammaan unugyada, gaar ahaan murqaha iyo beerka.

GSD V sidoo kale waxaa loo yaqaan cudurka McArdle.

GSD V waxaa sababa cillad ku timid hidda-wadaha oo sameeya enzme loo yaqaan muruq glycogen phosphorylase. Natiijo ahaan, jirku ma burburin karo glycogen muruqyada.

GSD V waa cudur ku dhaca hiddo-wadaha (autosomal recessive genetic disorder). Tan macnaheedu waxa weeye waa inaad ka heshaa nuqul hidde-wadaha aan shaqeynin labada waalid. Qofka hidde-wadaha aan shaqeynin ka helo waalid keliya badanaa ma yeesho cilladan. Taariikhda qoyska ee GSD V waxay kordhisaa halista.

Calaamadaha badanaa waxay bilaabaan inta lagu jiro caruurnimada hore. Laakiin, way adkaan kartaa in la kala saaro astaamahan iyo kuwa carruurnimada caadiga ah. Baadhitaanku ma dhici karo illaa qofku ka weynaado 20 ama 30 sano.

• Kaadi midabkiisu yahay Burgundy (myoglobinuria)
• Daal
• Dulqaad la’aan jimicsi, adkeysi liidata
• Muruqyo xanuun
• Murqo xanuun
• Muruq adkaanta
• Murqaha oo daciifa

Tijaabooyinka soo socda waa la samayn karaa:

• Electromyography (EMG)
• Tijaabada hidaha
• Lactic acid dhiigga ku jira
• MRI
• Cad ka-qaadista murqaha
• Myoglobin kaadida
• Plasma ammonia
• Serum creatine kinase

Ma jiro daaweyn gaar ah.

Bixiyaha xanaanada caafimaadka ayaa soo jeedin kara waxyaabaha soo socda si aad u ahaato mid firfircoon oo caafimaad qaba kana hortaga astaamaha:

• Ka taxaddar xaddidaaddaada jir ahaaneed.
• Kahor jimicsiga, si tartiib ah u kululee.
• Ka fogow jimicsiga adag ama dheer.
• Cun borotiin kugu filan.

Weydii adeeg bixiyahaaga haddii ay fikrad fiican tahay in xoogaa sonkor ah la cuno ka hor jimicsiga. Tani waxay kaa caawin kartaa kahortaga astaamaha muruqyada.

Haddii aad u baahan tahay qalliin, weydii adeeg-bixiyahaaga haddii ay caadi tahay in lagugu siiyo suuxdinta guud.

Kooxaha soo socda ayaa ku siin kara macluumaad iyo ilo dheeraad ah:

• Ururka Cudurka Kaydinta Glycogen - www.agsdus.org
• Ururka Qaranka ee Cudurrada Cudurrada Dhif ah - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Dadka qaba GSD V waxay ku noolaan karaan nolol caadi ah iyagoo maamulaya cuntadooda iyo dhaqdhaqaaqa jirkooda.

Jimicsigu wuxuu soo saari karaa murqo xanuun, ama xitaa burburka murqaha lafaha (rhabdomyolysis). Xaaladani waxay la xiriirtaa kaadi-midab-buluug ah oo khatar ah oo kelyaha hawlgab ah haddii ay daran tahay.

La xiriir daryeel bixiyahaaga haddii aad ku celceliso dhacdooyinka murqaha ama ciriiriga ah jimicsiga ka dib, gaar ahaan haddii aad sidoo kale leedahay kaadida burgundy ama pink.

Tixgeli la-talinta hidda-socodka haddii aad leedahay taariikh qoys oo GSD V.

Yaraanshaha myophosphorylase; Muscle glycogen fosforylase yaraanta; Yaraanta PYGM

Akman HO, Oldfors A, DiMauro S. Cudurada kaydinta muruqyada ee Glycogen. Gudaha: Darras BT, Jones HR, Ryan MM, De Vivo DC, eds. Cilladaha Neuromuscular ee Carruurta, Carruurnimada, iyo Qaan-gaarnimada. 2aad ed. Waltham, MA: Elsevier Press Academic; 2015: baab 39.

Brandow AM. Cilladaha Enzymatic. Gudaha: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Buugga Buugga Caafimaadka Caruurta. 21aad ed. Philadelphia, PA: Elsevier; 2020: cutubka 490.

Weinstein DA. Cudurrada keydinta Glycogen. Gudaha: Goldman L, Schafer AI, eds. Daawada Goldman-Cecil. 26aad. Philadelphia, PA: Elsevier; 2020: cutubka 196.