Rubuta cututtukan ajiyar V glycogen

Nau'in V (biyar) cututtukan glycogen (GSD V) yanayi ne na gado wanda jiki baya iya karya glycogen. Glycogen muhimmin tushe ne na makamashi wanda aka adana a cikin dukkan kayan kyallen takarda, musamman a cikin tsokoki da hanta.

GSD V kuma ana kiranta cutar McArdle.

GSD V yana faruwa ne sakamakon lahani a cikin kwayar halitta wacce ke sanya enzyme da ake kira muscle glycogen phosphorylase. A sakamakon haka, jiki ba zai iya rushe glycogen a cikin tsokoki ba.

GSD V cuta ce ta kwayar halitta da ke haifar da koma baya. Wannan yana nufin cewa dole ne ku karɓi kwafin jigilar marasa aiki daga iyayen biyu. Mutumin da ke karɓar kwayar halitta ba tare da aiki daga iyaye ɗaya ba yawanci ba ya ci gaba da wannan ciwo. Tarihin iyali na GSD V yana ƙara haɗarin.

Kwayar cutar yawanci ana farawa yayin yarinta. Amma, yana da wahala a rarrabe waɗannan alamun daga waɗanda ke yara. Ganewar asali ba zai iya faruwa ba har sai mutum ya wuce shekaru 20 ko 30.

• Fitsari mai launin Burgundy (myoglobinuria)
• Gajiya
• Motsa jiki rashin haƙuri, ƙarfin hali
• Ciwon tsoka
• Ciwon tsoka
• Clearfin tsoka
• Raunin jijiyoyi

Za a iya yin gwaje-gwaje masu zuwa:

• Kayan lantarki (EMG)
• Gwajin kwayoyin halitta
• Lactic acid a cikin jini
• MRI
• Gwajin tsoka
• Myoglobin a cikin fitsari
• Plasma ammoniya
• Maganin creatine kinase

Babu takamaiman magani.

Mai ba da sabis na kiwon lafiya na iya ba da shawarar mai zuwa don ci gaba da aiki da ƙoshin lafiya da hana alamun:

• Yi hankali da iyawarka ta jiki.
• Kafin motsa jiki, dumama a hankali.
• Guji motsa jiki da ƙarfi ko tsayi.
• Ku ci isasshen furotin.

Tambayi mai ba ku sabis idan yana da kyau ku ci ɗan sukari kafin ku motsa jiki. Wannan na iya taimakawa wajen hana alamun tsoka.

Idan kana buƙatar yin tiyata, tambayi mai ba da sabis idan ya yi daidai ka sami maganin sa rigakafin gaba ɗaya.

Groupsungiyoyin masu zuwa na iya ba da ƙarin bayani da albarkatu:

• Forungiyar Cutar Cututtukan Glycogen - www.agsdus.org
• Nationalungiyar forasa ta Rare cututtukan Cututtuka - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Mutanen da ke da GSD V na iya rayuwa ta yau da kullun ta hanyar sarrafa abincinsu da motsa jiki.

Motsa jiki na iya haifar da ciwon tsoka, ko ma lalacewar jijiyar ƙashi (rhabdomyolysis). Wannan yanayin yana da alaƙa da fitsari mai launi-burgundy da haɗarin gazawar koda idan yayi tsanani.

Tuntuɓi mai ba ku sabis idan kuna maimaita lokuttan lokutan ciwo ko ƙuntataccen tsokoki bayan motsa jiki, musamman ma idan kuna da fitsarin burgundy ko ruwan hoda.

Yi la'akari da ba da shawara kan kwayar halitta idan kana da tarihin iyali na GSD V.

Myophosphorylase rashi; Muscle glycogen phosphorylase rashi; Rashin PYGM

Akman HO, Oldfors A, DiMauro S.Glycogen cututtukan ajiya na tsoka. A cikin: Darras BT, Jones HR, Ryan MM, De Vivo DC, eds. Uwayoyin cuta na yara, yara, da samari. 2nd ed. Waltham, MA: Elsevier Makarantar Ilimin; 2015: babi na 39.

Brandow AM. Launin Enzymatic. A cikin: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Littafin koyar da ilimin yara. 21st ed. Philadelphia, PA: Elsevier; 2020: babi na 490.

Weinstein DA. Cututtukan adana Glycogen. A cikin: Goldman L, Schafer AI, eds. Magungunan Goldman-Cecil. 26th ed. Philadelphia, PA: Elsevier; 2020: babi na 196.