Progeria

ʻO Progeria kahi ʻano laha ʻole e hoʻopuka i ka ʻelemakule wikiwiki i nā keiki.

ʻO Progeria kahi ʻano laha ʻole. Kupaianaha ia no ka like loa o kāna mau hōʻailona me ke kūpuna o ke kanaka, akā hiki i nā keiki ʻōpio. I ka hapanui o nā hihia, ʻaʻole i hoʻoili ʻia i waena o nā ʻohana. ʻAʻohe ʻike iki ʻia ma mua o hoʻokahi keiki o kahi ʻohana.

ʻO nā hōʻailona me:

• ʻO ka ulu ulu ʻole i ka makahiki mua o ke ola
• ʻArrmiʻi, hihi paha a helehelena paha
• ʻŌhule
• Lilo o nā kuʻemaka a me nā maka maka
• Kūlana pōkole
• ʻO ke poʻo nui no ka nui o ka helehelena (macrocephaly)
• Wehe i kahi kiko palupalu (fontanelle)
• Kaʻi liʻiliʻi (micrognathia)
• ʻIli maloʻo, wīwī, lahilahi
• Palena palena palena o ka noi
• Niho - hoʻolohi a haʻalele paha i ke kūkulu ʻana

E hana ka mea mālama ola i kahi hoʻokolohua kino a hoʻonohonoho i nā hoʻokolohua hoʻokolohua. Hōʻike paha kēia:

• Ke kūpaʻa ʻo ka insulin
• Hoʻololi ka ʻili e like me ka mea i ʻike ʻia ma scleroderma (lilo ka mea pili i mea paʻakikī a paʻakikī)
• ʻO nā pae maʻamau kolesterol a me nā triglyceride

Hōʻike ka hoʻāʻo ʻana o ke kīʻaha ʻo Cardiac i nā hōʻailona o ke atherosclerosis mua o nā kīʻaha koko.

Hiki i ka hoʻāʻo genetic ke ʻike i nā loli o ka ʻāpana (LMNA) ke kumu o ka progeria.

ʻAʻohe mālama kūikawā no ka progeria. Hiki ke hoʻohana ʻia nā lāʻau Aspirin a me statin e pale aku ai i ka hōʻeha puʻuwai a i ʻole ka hahau ʻana.

Progeria Research Foundation, Inc. - www.progeriaresearch.org

Hoʻokumu ʻo Progeria i ka make mua. ʻO ka poʻe me ke ʻano noho pinepine lākou i ko lākou mau makahiki ʻōpio (awelika ke ola o 14 mau makahiki). Eia nō naʻe, hiki i kekahi ke noho i ko lākou mau makahiki 20 mua. ʻO ke kumu o ka make e pili pinepine i ka puʻuwai a i ʻole ka hahau.

Komo pū nā pilikia:

• Puʻuwai puʻuwai (myocardial infarction)
• Hahau

Kāhea i kāu mea hāʻawi inā ʻaʻole e ulu ana kāu keiki a ulu maʻamau paha.

ʻO Hutchinson-Gilford progeria maʻi; HGPS

• Ka paʻa artery coronary

ʻO Gordon LB. ʻO Hutchinson-Gilford progeria maʻi (progeria). 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 109.

ʻO Gordon LB, Brown WT, Collins FS. ʻO Hutchinson-Gilford progeria maʻi. Nā Manaʻo GeneReview. 2015: 1. PMID: 20301300 www.ncbi.nlm.nih.gov/pubmed/20301300. Hoʻohou i Ianuali 17, 2019. Loaʻa iā Iulai 31, 2019.