Tora V glycogen kuchengetedza chirwere

Type V (shanu) glycogen kuchengetedza chirwere (GSD V) chinhu chisingawanzo gamuchirwa nhaka umo muviri usingakwanise kuputsa glycogen. Glycogen yakakosha sosi yesimba iyo inochengetwa mumatishu ese, kunyanya mumhasuru uye chiropa.

GSD V inonziwo chirwere cheMcArdle.

GSD V inokonzerwa nechikanganiso chiri mugene chinoita enzyme inonzi mhasuru glycogen phosphorylase. Nekuda kweizvozvo, muviri haugone kuputsa glycogen mumhasuru.

GSD V ndeye autosomal yakawandisa geni kusagadzikana. Izvi zvinoreva kuti iwe unofanirwa kugamuchira kopi yeiyo isingashande geni kubva kune vese vabereki. Munhu anogamuchira geni risingashande kubva kumubereki mumwe chete kazhinji haagadzirise chirwere ichi. Nhoroondo yemhuri yeGSD V inowedzera njodzi.

Zviratidzo zvinowanzo kutanga panguva yehucheche hudiki. Asi, zvingave zvakaoma kupatsanura zviratidzo izvi kubva kune zveuhwana hwepamoyo. Kuongororwa hakugone kuitika kusvikira munhu apfuura makore makumi maviri kana makumi matatu ekuberekwa.

• Burgundy-mavara weti (myoglobinuria)
• Kuneta
• Exercise kusashivirira, hurombo stamina
• Tsandanyama tsandanyama
• Kutambudzika kwemhasuru
• Kuomesa kwetsandanyama
• Tsvina kushaya simba

Iyi bvunzo inotevera inogona kuitwa:

• Electromyography (EMG)
• Kuongorora genetic
• Lactic acid muropa
• MRI
• Tsvina biopsy
• Myoglobin mune weti
• Plasma ammonia
• Serum creatine kinase

Iko hakuna chaiyo kurapwa.

Anopa hutano anogona kupa zvinotevera kuti ugare uchishanda uye uine hutano uye kudzivirira zviratidzo.

• Ziva zvaunotadza kuita.
• Usati wadzidzira muviri, dziisa zvakanaka.
• Dzivisa kurovedza muviri zvakanyanya kana kuti kureba.
• Idya mapuroteni akakwana.

Kumbira mupiki wako kana iri zano rakanaka kudya shuga usati waekisesaiza. Izvi zvinogona kubatsira kudzivirira masuru zviratidzo.

Kana iwe uchida kuvhiyiwa, bvunza mupi wako kana zvakanaka kuti iwe uve neanesthesia yakajairika.

Aya mapoka anotevera anogona kupa rumwe ruzivo uye zviwanikwa:

• Sangano reGlycogen Kuchengetedza Zvirwere - www.agsdus.org
• National Sangano reRare Zvirwere Dambudziko - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Vanhu vane GSD V vanogona kurarama hupenyu hwakajairika nekugadzirisa kwavo kudya uye kuita kwemuviri.

Kuita maekisesaizi kunogona kuburitsa tsandanyama kurwadziwa, kana kunyangwe kuparara kwemarunda mhasuru (rhabdomyolysis). Aya mamiriro anosanganiswa ne burgundy-mavara weti uye njodzi yekutadza kwetsvo kana iri yakaoma.

Bata mupi wako kana iwe wakadzokorora zvikamu zvemaronda akasimba kana akapwanyika mushure mekurovedza muviri, kunyanya kana iwe zvakare uine burgundy kana pink weti.

Funga nezve kuraira kwemajini kana uine nhoroondo yemhuri yeGSD V.

Kushomeka kweMyophosphorylase; Tsvina glycogen phosphorylase kushomeka; PYGM kushomeka

Akman HO, Oldfors A, DiMauro S. Glycogen kuchengetedza zvirwere zvetsandanyama. Mune: Darras BT, Jones HR, Ryan MM, De Vivo DC, eds. Neuromuscular Dambudziko reUcheche, Udiki, uye Kuyaruka. 2nd ed. Waltham, MA: Elsevier Dzidzo Press; 2015: chits. 39.

Brandow AM. Enzymatic kukanganisa. Mune: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Chinyorwa chePediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020: chitsamba 490.

Weinstein DA. Zvirwere zvekuchengetedza zveGlycogen. Mune: Goldman L, Schafer AI, eds. Goldman-Cecil Mushonga. 26th ed. Philadelphia, PA: Elsevier; 2020: chitsuwa 196.