Anemia Fanconi

ʻO ka anemia Fanconi kahi maʻi maʻamau i waiho ʻia i waena o nā ʻohana (hoʻoilina) e hoʻopili nui i ka momona o ka iwi. Loaʻa i ka hopena ka hōʻemi ʻana i ka hana o nā ʻano koko āpau.

ʻO kēia ka hoʻoilina maʻamau o ka anemia aplastic.

ʻOkoʻa ka anemia Fanconi mai ka maʻi maʻi Fanconi, kahi maʻi maʻi ʻōiwi laha ʻole.

ʻO ka anemia Fanconi ma muli o kahi ʻāpana ʻino ʻole e hōʻino ai i nā hunaola, e mālama ai iā lākou mai ka hoʻoponopono hou ʻana i ka DNA ʻino.

E hoʻoilina iā Fanconi anemia, pono i ke kanaka ke loaʻa i hoʻokahi kope o ka ʻaoʻao ʻokoʻa mai kēlā me kēia mākua.

Hoʻomaopopo pinepine ʻia ke ʻano i nā keiki ma waena o 3 a 14 mau makahiki.

Loaʻa ka poʻe me ka anemia Fanconi i nā helu haʻahaʻa o ke koko keʻokeʻo ma mua o ka maʻamau, nā hunaola ʻulaʻula, a me nā platelet (nā kōkua e kōkua i ke kōkuʻu koko).

ʻAʻole lawa nā koko keokeo i hiki ke alakaʻi i nā maʻi. ʻO ka nele o nā hunaola ʻulaʻula e hopena i ka luhi (anemia).

Hiki ke alakaʻi i kahi nui haʻahaʻa-ma mua o ka maʻamau o ka platelet i ka nui o ke kahe ʻana o ke kahe.

ʻO ka hapa nui o nā poʻe me ka anemia Fanconi i kekahi o kēia mau ʻōuli:

• ʻO ka puʻuwai maʻamau, nā akemāmā, a me nā wahi digestive
• Hiki i nā pilikia iwi (ʻo ka hip, iwi kuamoʻo a iwi ʻaoʻao paha) ke kumu i ka iwi kuamoʻo (scoliosis)
• ʻO nā hoʻololi i ke kala o ka ʻili, e like me nā wahi pouli o ka ʻili, i kapa ʻia ʻo café au lait spot, a me vitiligo
• ʻO ke kuli ma muli o nā pepeiao ʻole
• Nā pilikia o ka maka a ʻo ka maka paha
• Nā hakuʻala ʻaʻole i hana kūpono
• Nā pilikia me nā lima a me nā lima, e like me ka nalo ʻana, nā manamana nui keu a i ʻole misshapen, nā pilikia o nā lima a me ka iwi i ka lima lalo, a me ka iwi liʻiliʻi a i ʻole e nalo ana i ka forearm
• Kiʻekiʻena kiʻekiʻe
• ʻO ke poʻo liʻiliʻi
• ʻO nā testicle liʻiliʻi a me nā loli genital

Nā hōʻailona kūpono ʻē aʻe:

• Ka holomua ʻole ʻana
• Aʻo kīnā ʻole
• Kaumaha hānau haʻahaʻa
• Kīnā ʻole o ka noʻonoʻo

ʻO nā hōʻike maʻamau no ka anemia Fanconi:

• Biopsy iwi ʻōiwi
• Helu piha koko (CBC)
• Nā hoʻāʻo hoʻomohala
• Hoʻohui ʻia nā lāʻau i kekahi hāpana koko e nānā no ka hōʻino ʻia o nā chromosome
• ʻO ka x-ray a me nā noi kiʻi ʻē aʻe (CT scan, MRI)
• Hōʻike hoʻolohe
• Ke kikokiko ʻana o nā kiko HLA (e ʻimi i nā mea kōkua iwi-ʻāʻī like)
• Ultrasound o nā puʻupaʻa

Loaʻa paha i nā wahine hāpai i amniocentesis a i ʻole chorionic villous sampling e hōʻoia i ke ʻano i kā lākou keiki hānau ʻole.

ʻO ka poʻe me ke akahai e hoʻohaʻahaʻa i nā kinikini koko e pono ʻole ai ke transfusion pono wale nō i nā hōʻoia maʻamau a me nā helu helu helu koko. E kiaʻi pono ka mea mālama ola i ke kanaka no nā maʻi ʻino ʻē aʻe. Hiki i kēia ke komo pū me ka leukemia a i ʻole nā ​​maʻi ʻino o ke poʻo, ka ʻāʻī, a me ka ʻōnaehana urinary.

ʻO nā lāʻau i kapa ʻia nā mea ulu (e like me erythropoietin, G-CSF, a me GM-CSF) hiki ke hoʻomaikaʻi i nā helu o ke koko no kekahi manawa pōkole.

Hiki i kahi transplant pūpū iwi ke hōʻola i ka helu o ke koko i nā anemia Fanconi. (ʻO ka mea hāʻawi iwi iwi maikaʻi ʻo ia he kaikaina a kaikuahine paha nona ka ʻano kiko e like me ke kanaka i hoʻopilikia ʻia e Fanconi anemia.)

ʻO ka poʻe i loaʻa kahi ʻōiwi ʻōiwi kūleʻa e pono e nānā maʻamau no ka makaʻu no nā maʻi maʻi hou.

Hoʻonohonoho ʻia ʻo Hormone therapy me nā lāʻau haahaa o nā steroid (e like me hydrocortisone a i ʻole prednisone) i ka poʻe ʻaʻohe mea hāʻawi i ka iwi iwi. Pane ka hapa nui o ka poʻe i ka hoʻōla hormonone. Akā ʻo nā mea āpau me ka maʻi e ʻino koke ana ke kū ʻia nā lāʻau. I ka hapanui o nā hihia, hoʻopau kēia mau lāʻau i ka hana.

Hoʻohui ʻia nā hana hou aʻe:

• Nā Antibiotics (hāʻawi ʻia paha ma o ke aa) e mālama i nā maʻi
• Hoʻopili ke koko e mālama i nā hōʻailona ma muli o ka helu haʻahaʻa o ke koko
• Kanaka maʻi papilloma maʻi kanaka

ʻO ka hapanui o nā kānaka me kēia ʻano e kipa aku i ke kauka i nā manawa mau, kūikawā i ka mālama ʻana:

• Nā maʻi koko (hematologist)
• Nā maʻi e pili ana i nā glands (endocrinologist)
• Nā maʻi maka (ophthalmologist)
• Nā maʻi iwi (orthopedist)
• Kahuna maʻi (nephrologist)
• Nā maʻi e pili ana i nā wahine hānau keiki a me nā umauma (gynecologist)

Hoʻololi nā ola i kēlā me kēia kanaka. Maikaʻi ka nānā i nā mea me nā helu haʻahaʻa o ke koko. ʻO nā hana hou a hoʻomaikaʻi hou ʻia, e like me ka hoʻoulu ʻana o ka iwi iwi, ua hoʻomaikaʻi paha i ke ola.

ʻO ka poʻe me ka anemia Fanconi e hoʻomohala i nā ʻano o nā maʻi koko a me nā maʻi ʻaʻai. Pākuʻi ʻia paha kēia me ka leukemia, myelodysplastic syndrome, a me ka maʻi ʻaʻai o ke poʻo, ka ʻāʻī, a me ka ʻōnaehana urinary.

ʻO nā wahine me ka anemia Fanconi e hāpai a pono e nānā pono ʻia e ka loea. Pono kēlā mau wahine i ka transfusions i loko o ka wā hāpai.

ʻO nā kāne me ka anemia Fanconi i hoʻemi i ka momona.

Komo paha nā pilikia o Fanconi anemia:

• Hoka iwi iwi ʻole
• Maʻi ʻaʻai Koko
• Nā maʻi 'aʻai ate (nā mea maikaʻi a me nā meaʻino)

Hiki i nā ʻohana me ka mōʻaukala o kēia ʻano ke loaʻa i ka ʻōlelo aʻoaʻo kūlohelohe e hoʻomaopopo pono ai i ko lākou pilikia.

Hiki i ka lāʻau lapaʻau ke hoʻohaʻahaʻa i kekahi mau pilikia, e like me ka pneumococcal pneumonia, ka maʻi hepa, a me nā maʻi varicella.

Pono nā poʻe me ka anemia Fanconi e hōʻalo i nā lāʻau maʻi-maʻi (carcinogens) a loaʻa i nā manawa maʻamau e nānā no ka maʻi ʻaʻai.

Anemia Fanconi; Anemia - Fanconi's

• Nā mea i hana ʻia o ke koko

ʻO Dror Y. Hoʻoilina i nā iwi o ka iwi iwi ʻole. I: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Nā Kumumanaʻo a me ka Hoʻomeheu. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 29.

Lissauer T, Carroll W. Nā maʻi Haematological. I: Lissauer T, Carroll W, eds. ʻO ka puke kākau moʻolelo no Paediatrics. 5th lā. Piladelapia, PA: Elsevier; 2018: chap 23.

ʻO Vlachos A, Lipton JM. Hoka iwi iwi ʻole. I: Lanzkowsky P, Lipton JM, Fish JD, eds. ʻO Lanzkowsky's Manual of Pediatric Hematology a me Oncology. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2016: chap 8.