Aase maʻi maʻi

ʻO Aase Syndrome kahi maʻi laha ʻole e pili ana i ka anemia a me kekahi o nā hui a me nā kino iwi.

Hana ʻia nā hihia he nui o ka maʻi Aase me ke kumu ʻole a ʻike ʻole ʻia e nā ʻohana (hoʻoilina). Eia naʻe, ua hōʻike ʻia kekahi mau hihia (45%) e hoʻoilina.Kūpono kēia mau mea i ka loli o 1 o 20 mau genes nui no ka hana pololei ʻana i ka protein (hana nā genes i nā protein ribosomal).

Ua like kēia ʻano me ka anemia Diamond-Blackfan, a ʻaʻole pono e hoʻokaʻawale ʻia nā kūlana ʻelua. Loaʻa kahi ʻāpana nalowale ma chromosome 19 i kekahi poʻe me ka anemia Diamond-Blackfan.

Hoʻokumu ʻia ka anemia ma ka maʻi Aase e ka ulu maikaʻi ʻole o ka iwi iwi, kahi e hana ʻia ai nā hunaola koko.

Pākuʻi ʻia paha nā ʻōuli:

• Hele aku a i ʻole nā ​​knuckles liʻiliʻi
• Pāpā palu
• Pepeiao deformed
• Pākuʻi maka eyroids
• Ka hiki ʻole ke hoʻopaneʻe piha i nā hono mai ka hānau ʻana
• Poʻohiwi kūiki
• ʻIli pale
• Manamana nui hui pū ʻia ʻekolu

E hana ka mea mālama ola i kahi hoʻokolohua kino. ʻO nā hoʻāʻo e hana ʻia ana paha:

• Biopsy iwi ʻōiwi
• Helu piha koko (CBC)
• ʻEchocardiogram
• Nā kukuna X

Hiki i ka mālama ʻana ke hoʻopili i ke koko i ka makahiki mua o ke ola e mālama i ka anemia.

Ua hoʻohana ʻia kahi lāʻau steroid i kapa ʻia ʻo prednisone e mālama i ka anemia e pili ana me ka Aase Syndrome. Eia nō naʻe, pono e hoʻohana wale ʻia ia ma hope o ka nānā ʻana i nā pono a me nā pilikia me kahi mea hoʻolako i ʻike i ka mālama ʻana i nā anemias.

Pono paha kahi kuʻi iwi o ka iwi inā holo ʻole kekahi lāʻau.

Hoʻomaikaʻi ka anemia me ka makahiki.

Nā pilikia e pili ana i ka anemia me:

• Ka luhi
• Hoemi i ka oxygen i loko o ke koko
• Nawaliwali

Hiki i nā pilikia o ka puʻuwai ke alakaʻi i nā ʻano pilikia like ʻole, kaukaʻi ʻia i ka hemahema kikoʻī.

ʻO nā hihia koʻikoʻi o ka maʻi Aase e pili pū me ka hānau hānau a me ka make mua.

Paipai ʻia ka ʻōlelo aʻoaʻo genetic inā he moʻolelo ʻohana kāu no kēia maʻi maʻi a makemake e hāpai.

Maʻi Aase-Smith; Anemia Hypoplastic - manamana nui triphalangeal, ʻano Aase-Smith; ʻO Diamond-Blackfan me AS-II

ʻO Clinton C, Gazda HT. Anemia Diamond-Blackfan. Nā Manaʻo GeneReview. 2014: 9. PMID: 20301769 www.ncbi.nlm.nih.gov/pubmed/20301769. Hoʻohou i Malaki 7, 2019. Loaʻa iā Iulai 31, 2019.

ʻO Gallagher PG. ʻO ka erythrocyte neonatal a me kāna mau maʻi. I: Orkin SH, Fisher DE, Ginsburg D, Nānā MA, Lux SE, Nathan DG, eds. ʻO Hematology a Nathan a me Oski a me Oncology o ke kamaliʻi a me ke kamaliʻi. 8th ed. Piladelapia, PA: Elsevier Saunders; 2015: chap 2.

CD ʻo Thornburg. Anemia hypoplastic Congenital (Diamond-Blackfan anemia). 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 475.