Type V glycogen yosungira matenda

Mtundu wa V (asanu) matenda osungira glycogen (GSD V) ndimavuto obadwira omwe thupi silimatha kuwononga glycogen. Glycogen ndi gwero lofunikira lamphamvu lomwe limasungidwa m'matumba onse, makamaka minofu ndi chiwindi.

GSD V amatchedwanso matenda a McArdle.

GSD V imayambitsidwa ndi vuto mu jini lomwe limapanga enzyme yotchedwa minofu ya glycogen phosphorylase. Zotsatira zake, thupi silimatha kuthyola glycogen m'minyewa.

GSD V ndimatenda amtundu wa autosomal owonjezera. Izi zikutanthauza kuti muyenera kulandira mtundu wa jini losagwira ntchito kuchokera kwa makolo onse. Munthu amene amalandira jini yosagwira kuchokera kwa kholo limodzi nthawi zambiri samakhala ndi matendawa. Mbiri yabanja ya GSD V imakulitsa ngozi.

Zizindikiro zimayamba adakali aang'ono. Koma, zitha kukhala zovuta kusiyanitsa izi ndi zaubwana wabwinobwino. Kuzindikira sikungachitike mpaka munthu atadutsa zaka 20 kapena 30.

• Mkodzo wamtundu wa Burgundy (myoglobinuria)
• Kutopa
• Khalani osalolera, olimba mtima
• Kupweteka kwa minofu
• Kupweteka kwa minofu
• Kuuma kwa minofu
• Minofu kufooka

Mayesero otsatirawa akhoza kuchitidwa:

• Electromyography (EMG)
• Kuyesedwa kwachibadwa
• Lactic acid m'magazi
• MRI
• Kutulutsa minofu
• Myoglobin mumkodzo
• Madzi a m'magazi ammonia
• Seramu wopanga kinase

Palibe mankhwala enieni.

Wothandizira zaumoyo atha kupereka malingaliro otsatirawa kuti akhalebe achangu komanso athanzi ndikupewa zizindikiro:

• Dziwani zofooka zanu.
• Musanayambe kuchita masewera olimbitsa thupi, konzekerani pang'ono.
• Pewani kuchita masewera olimbitsa thupi kwambiri kapena motalika kwambiri.
• Idyani mapuloteni okwanira.

Funsani omwe akukuthandizani ngati ndibwino kuti mudye shuga musanachite masewera olimbitsa thupi. Izi zitha kuthandiza kupewa zizindikiritso zaminyewa.

Ngati mukufuna kuchitidwa opaleshoni, funsani omwe akukuthandizani ngati zili bwino kuti mukhale ndi anesthesia wamba.

Magulu otsatirawa atha kupereka zambiri ndi zowonjezera:

• Mgwirizano wa Matenda Osungira a Glycogen - www.agsdus.org
• National Organisation for Rare Disease Disways - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Anthu omwe ali ndi GSD V amatha kukhala moyo wabwinobwino poyang'anira zomwe amadya komanso zolimbitsa thupi.

Kuchita masewera olimbitsa thupi kumatha kupweteketsa minofu, kapena kuwonongeka kwa mafupa (rhabdomyolysis). Vutoli limalumikizidwa ndi mkodzo wamtundu wa burgundy komanso chiopsezo cha impso ngati chilimba.

Lumikizanani ndi omwe amakupatsani ngati mwabwereza zochitika zowawa kapena zopanikizika mutatha kuchita masewera olimbitsa thupi, makamaka ngati muli ndi mkodzo wa burgundy kapena pinki.

Ganizirani za upangiri wa majini ngati muli ndi mbiri yabanja ya GSD V.

Kusowa kwa Myophosphorylase; Minofu ya glycogen phosphorylase; Kuperewera kwa PYGM

Akman HO, Oldfors A, DiMauro S.Matenda osungira minofu a Glycogen. Mu: Darras BT, Jones HR, Ryan MM, De Vivo DC, olemba. Matenda a Neuromuscular of Infancy, Childhood, ndi Achinyamata. Wachiwiri ed. Waltham, MA: Atolankhani a Elsevier Academic; 2015: chaputala 39.

Brandow AM. Zovuta za enzymatic. Mu: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, olemba. Nelson Textbook of Pediatrics. Wolemba 21. Philadelphia, PA: Elsevier; 2020: chap 490.

Weinstein DA. Matenda osungira Glycogen. Mu: Goldman L, Schafer AI, olemba. Mankhwala a Goldman-Cecil. 26 wa. Philadelphia, PA: Elsevier; 2020: chap 196.