maʻi ʻo Gierke

ʻO ka maʻi ʻo Von Gierke kahi ʻano i hiki ʻole i ke kino ke haki i ka glycogen. ʻO Glycogen kahi ʻano o ke kō (glucose) e mālama ʻia i ke ake a me nā mākala. Hoʻokaʻawale ʻia ia i ka glucose e hāʻawi iā ʻoe i ka ikaika hou aʻe ke makemake ʻoe.

Kāhea ʻia ka maʻi ʻo Von Gierke Type I glycogen storage maʻi (GSD I).

Hana ʻia ka maʻi ʻo Von Gierke ke nele ke kino i ka protein (enzyme) e hoʻokuʻu i ka glucose mai glycogen. ʻO kēia ke kumu o ke kūkulu ʻana o nā glycogen abnormal i kekahi mau aʻa. Ke wāwahi ʻole ʻia ka glycogen, alakaʻi ia i ke kō kō.

Ua hoʻoilina ʻia ka maʻi ʻo Von Gierke, ʻo ia hoʻi ua hoʻoili ʻia i loko o nā ʻohana. Inā lawe nā mākua ʻelua i kahi kope hana ʻole o ka ʻaoʻao e pili ana i kēia kūlana, loaʻa i kēlā me kēia o kā lāua keiki he 25% (1 i ka 4) manawa kūpono e ulu ai ka maʻi.

ʻO kēia nā hōʻailona o ka maʻi von Gierke:

• Pololi mau a pono e ʻai pinepine
• Māmā a me nā ihu ihu
• Ka luhi
• Huhū
• Pākuʻi puʻupuʻu, umauma lahilahi a me nā lālā, a ʻōpū pehu

E hana i kāu mea mālama ola i kahi hoʻokolohua kino.

Hōʻike paha ka hōʻike i nā hōʻailona o:

• Hoopaneeia ka manawa makua
• Ake akea
• Goute
• Maʻi maʻi ʻōpū
• ʻ Liverpū puʻukū
• Kō kō kō haʻahaʻa haʻahaʻa
• ʻO ka ulu ulu ʻole a ulu ʻole paha

ʻO nā keiki me kēia ʻano ʻike pinepine ʻia ma mua o ka makahiki 1.

ʻO nā hoʻāʻo e hana ʻia ana paha:

• ʻO Biopsy o ke ake a me nā puʻupaʻa
• Hōʻike kō kō
• Ke hoʻāʻo genetic
• Hōʻike koko lactic acid
• Pae Triglyceride
• Hōʻike koko ʻakika uric

Inā loaʻa kēia kanaka i kēia maʻi, hōʻike nā hopena hōʻike i ke kō a me ke kiʻekiʻe o ka wai lactate (hana ʻia mai ka waikawa lactic), nā momona o ke koko (lipids), a me ka waikawa uric.

ʻO ka pahuhopu o ka mālama ʻana e hōʻalo i ke kō kō haʻahaʻa. ʻAi pinepine i ka lā, keu hoʻi nā meaʻai i loko o nā carbohydrates (starches). Lawe paha nā kamaliʻi makua a me nā mākua i ka pā kōlea e ka waha e hoʻonui i kā lākou kāhāhā.

I kekahi mau keiki, hoʻokomo ʻia kahi pūʻai hānai ma o ko lākou ihu i loko o ka ʻōpū i loko o ka pō a pau e hāʻawi i nā kō a i ʻole ka moa i hoʻomoʻa ʻole ʻia. Hiki ke lawe i ka pahu i kēlā me kēia kakahiaka. ʻOkoʻa, hiki i kahi ʻōpū gastrostomy (G-tube) ke waiho ʻia e hāʻawi pololei i ka meaʻai i ka ʻōpū i ka pō.

ʻO kahi lāʻau e hoʻohaʻahaʻa i ka uric acid i ke koko a hoʻoliʻiliʻi i ka makaʻu no ka gout e kauoha ʻia. Kauoha paha kāu mea hāʻawi i nā lāʻau e mālama ai i nā maʻi puʻupaʻa, nā lipid kiʻekiʻe, a e hoʻonui ai i nā hunaola e hakakā ai i ka maʻi.

ʻAʻole hiki i ka poʻe me von Gierke maʻi ke wāwahi pono i ka hua a i ʻole ka waiū kō. ʻOi aku ka maikaʻi e hōʻalo i kēia mau huahana.

ʻAhahui no ka maʻi mālama Glycogen - www.agsdus.org

Me ka hoʻomaʻamaʻa, ulu, ʻōpio, a me ka maikaʻi o ke ola i hoʻomaikaʻi ʻia no nā poʻe me ka maʻi von Gierke. ʻO nā mea i ʻike ʻia a mālama pono ʻia i ka wā ʻōpio hiki ke ola i ka wā makua.

Hoʻemi ka mālama mua ʻana i ka helu o nā pilikia koʻikoʻi e like me:

• Goute
• Hewa ʻole nā ​​hakuʻala
• Hoʻoweliweli ke kō i ke kō kō
• ʻ Liverpū puʻukū

Hiki ke hana i kēia mau pilikia:

• Maʻi maʻi pinepine
• Goute
• Hewa ʻole nā ​​hakuʻala
• ʻ Liverpū puʻukū
• Osteoporosis (lahilahi nā iwi)
• ʻO ka hopu ʻana, lethargy, huikau ma muli o ke kō kō kō
• Kiʻekiʻena kiʻekiʻe
• Nā ʻano moekolohe ʻelua i lalo ʻole (nā umauma, lauoho lauoho)
• Ulcer o ka waha a ʻo ka ʻōpū

Kāhea i kāu mea hāʻawi inā loaʻa iā ʻoe ka moʻolelo ʻohana o ka maʻi mālama glycogen a i ʻole ka make mua o ke keiki ma muli o ke kō kō kō.

ʻAʻohe ala maʻalahi e pale aku ai i ka maʻi mālama glycogen.

ʻO nā kāne e makemake ana e loaʻa kahi pēpē e ʻimi paha i ka ʻōlelo aʻoaʻo a me ka hoʻāʻo ʻana e hoʻoholo ai i ko lākou pilikia no ka hele ʻana i ka maʻi ʻo von Gierke.

ʻAno I ka maʻi mālama glycogen

Bonnardeaux A, Bichet DG. ʻO nā maʻi hoʻoilina o ka tubule renal. I: Skorecki K, Chertow GM, Marsden PA, Taal MW, Yu ASL, eds. ʻO Brenner a me Rector's The Kidney. 10 o ka lā. Piladelapia, PA: Elsevier; 2016: chap 45.

Kishnani PS, Chen Y-T. Nā ʻino ma ka metabolism o nā haʻalako. 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 105.

Santos BL, Souza CF, Schuler-Faccini L, et al. ʻO ka maʻi mālama Glycogen ʻano 1: ka maʻi maʻi a me ka ʻikepili hale hōʻikeʻike. J Pediatra (Rio J). 2014; 90 (6): 572-579. PMID: 25019649 www.ncbi.nlm.nih.gov/pubmed/25019649.