ʻAno V maʻi mālama glycogen

ʻAno V (ʻelima) maʻi maʻi mālama glycogen (GSD V) kahi ʻano hoʻoilina maʻamau i hiki ʻole i ke kino ke haki i ka glycogen. ʻO Glycogen kahi waiwai nui o ka ikehu e mālama ʻia i nā mea āpau, keu hoʻi i nā mākala a me ke ake.

Kāhea ʻia ʻo GSD V ʻo McArdle maʻi.

Hoʻokumu ʻia ʻo GSD V e kahi kīnā ma ka ʻāpana i hana i kahi ʻākena i kapa ʻia ʻo ka muscle glycogen phosphorylase. ʻO ka hopena, ʻaʻole hiki i ke kino ke haki i ka glycogen i nā mākala.

ʻO GSD V kahi maʻi genesial recessive autosomal. ʻO kēia ke kumu e loaʻa ai iā ʻoe kahi kope o ka moʻomeheu hana ʻole mai nā mākua ʻelua. ʻO ke kanaka i loaʻa kahi ʻohana nonworking mai hoʻokahi makua wale nō ʻaʻole hoʻomohala i kēia maʻi. ʻO kahi moʻolelo ʻohana o GSD V e hoʻonui i ka makaʻu.

Hoʻomaka pinepine nā ʻōuli i ka wā kamaliʻi. Akā, paʻakikī paha e hoʻokaʻawale i kēia mau ʻōuli mai nā kamaliʻi maʻamau. ʻAʻole hiki ke ʻike ʻia a hiki i ke kanaka ma mua o 20 a 30 mau makahiki paha.

• Mīkini waihoʻoluʻu Burgundy (myoglobinuria)
• Ka luhi
• ʻO ka hoʻomanawanui ʻole i ka hoʻoikaika kino, ikaika ʻole i ka ikaika
• Pākuʻi kaʻiʻo
• ʻEha ʻeha
• ʻOʻoleʻa ʻaʻa
• Nāwaliwali ka ʻiʻo

E hana ʻia paha kēia mau hoʻāʻo:

• Uila (EMG)
• Ke hoʻāʻo genetic
• Lactic acid i ke koko
• MRI
• ʻO Biopsy Muscle
• Myoglobin i ka mimi
• Amonia plasma
• Serum creatine kinase

ʻAʻohe mālama kūikawā.

E ʻōlelo paha ka mea mālama ola i kēia mau mea e hoʻomau i ka hana a olakino a pale i nā hōʻailona.

• E makaʻala i kāu kau palena kino.
• Ma mua o ka hoʻoikaika kino, hoʻomehana mehana me ka mālie.
• Hōʻalo i ka hoʻoikaika kino a lōʻihi paha.
• ʻAi i ka protein.

E noi i kāu mea hāʻawi inā he manaʻo maikaʻi e ʻai i kahi kō ma mua o ka hoʻoikaika kino. Hiki i kēia ke kōkua i ka pale ʻana i nā ʻōuli o ka mākala.

Inā pono ʻoe e loaʻa i kahi ʻoki, nīnau i kāu mea hāʻawi inā maikaʻi iā ʻoe e loaʻa i ka anesthesia ākea.

Hiki i nā hui aʻe ke hāʻawi i ka ʻike hou aku a me nā kumuwaiwai.

• ʻAhahui no ka maʻi mālama Glycogen - www.agsdus.org
• National Organization for Rare Disease Disorder - rarediseases.info.nih.gov/diseases/6528/glycogen-storage-disease-type-5

Hiki i nā poʻe me GSD V ke ola i kahi ola maʻamau ma ka mālama ʻana i kā lākou papaʻai a me ka hoʻoikaika kino.

Hiki paha i ka hoʻoikaika kino ke hōʻeha i ka ʻeha puʻupuʻu, a i ʻole ka haki ʻana o nā mākala iwi (rhabdomyolysis). Pili kēia ʻano me ka mimi waihoʻoluʻu burgundy a me kahi pōpilikia no ka holo pono ʻole ʻana o ka puʻupaʻa inā koʻikoʻi ia.

Kāhea i kāu mea hāʻawi inā ua hana pinepine ʻoe i nā ʻāpana o ka ʻeha a ʻūʻī paha ma hope o ka hoʻoikaika kino, keu hoʻi inā he burgundy a mimi mikiʻī paha kāu.

E noʻonoʻo i nā ʻōlelo aʻoaʻo kūpuna inā he moʻolelo ʻohana kāu no GSD V.

Ka nele o Myophosphorylase; Ka hemahema o ka musly glycogen phosphorylase; Ka nele o PYGM

Akman HO, Oldfors A, DiMauro S. Glycogen mālama i nā maʻi o nā mākala. I: Darras BT, Jones HR, Ryan MM, De Vivo DC, eds. Nā maʻi Neuromuscular o ke pēpē, ke kamaliʻi, a me ka ʻōpio. ʻElua ed. Waltham, MA: Elsevier Academic Press; 2015: chap 39.

Brandow AM. Nā kīnā enzymatic. I: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. ʻO Puka Textbook of Pediatrics ʻo Nelson. 21st ed. Piladelapia, PA: Elsevier; 2020: chap 490.

ʻO Weinstein DA. Nā maʻi mālama glycogen. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 26th ed. Piladelapia, PA: Elsevier; 2020: chap 196.