Ke manaʻo nei ʻoe i kekahi manawa he puʻupuʻu a he wahi paʻakikī paha ma lalo o ka ʻili kokoke i kahi hono e like me kou kuʻekuʻe lima, poʻohiwi, a kuli paha? ʻAʻole paha e ʻeha ke kaomi ʻoe iā ia, akā hiki ke nui iki. He mea maʻamau ke manaʻo iki i ka makaʻu ke ʻike ʻoe i kahi mea e like me kēia. Akā, ʻaʻole kēia mau puʻupuʻu a pau he mau maʻi kanesa weliweli. I kēia lā, e kamaʻilio mākou e pili ana i kahi kūlana e hōʻike ana i kēia mau hōʻailona, akā ʻaʻole ia he maʻi kanesa, a he mea kakaikahi iki akā he mea nui e ʻike. ʻO ia ka 'Tumoral Calcinosis' .
He aha ka Tumoral Calcinosis?
I ka ʻōlelo maʻalahi, he maʻi hoʻoilina ka tumoral calcinosis. ʻO kēia ka wā e kiʻekiʻe loa ai kou pae koko o kahi kemika i kapa ʻia ʻo phosphate. ʻO ka Phosphate kahi ʻāpana uila, a i ʻole ion, i loaʻa ka mineral phosphorus. No laila, i loko o ke kanaka me ka tumoral calcinosis, hōʻiliʻili ka phosphorus a me ka calcium i loko o ke kino, e hana ana i nā puʻupuʻu ma lalo o ka ʻili, ʻoi aku hoʻi a puni nā hono.
He mea nui ka phosphorus a me ka calcium no ko kākou kino e kūkulu i nā niho a me nā iwi olakino a ikaika. Akā i ka wā e kiʻekiʻe loa ai lākou, hoʻomaka nā ulu ʻana ʻaʻole maʻi kanesa (benign), ʻo ia hoʻi, ʻaʻole weliweli, akā e like me nā puʻupuʻu, e hana i loko o nā ʻiʻo. ʻO kēia ka mea a mākou e kapa nei he tumoral calcinosis.
Aia kekahi inoa ʻē aʻe no kēia?
ʻAe, ʻo ka inoa lapaʻau piha no kēia maʻi ʻo 'Hyperphosphatemic Familial Tumoral Calcinosis' (HFTC) . He inoa lōʻihi iki, ʻeā? Ua kapa pū kekahi mau kauka iā ia ʻo 'Teutschlaender disease'. ʻO ia ka hoʻomanaʻo ʻana iā Otto Teutschlaender, he kauka Kelemania nāna i aʻo i kēia maʻi mai ka makahiki 1930 a hiki i ka makahiki 1950.
He aha ke ʻano o kēia inoa lapaʻau lōʻihi?
E hoʻokaʻawale anei kākou i kēia inoa i mau ʻāpana a hoʻomaopopo iā ia? E maʻalahi kēlā.
- Hyperphosphatemic: ʻO ke ʻano kēia ua kiʻekiʻe ka pae phosphate i loko o ke koko.
- ʻOhana: ʻO ke ʻano kēia he kūlana kēia e holo i loko o nā ʻohana a he hoʻoilina.
- Tumoral: Hoʻohana ʻia kēia huaʻōlelo no ka mea ua like kēia mau ulu ʻana e like me nā puʻupuʻu maʻi kanesa.
- Calcinosis: ʻO ke ʻano kēia, ua waiho ʻia ka calcium i loko o nā ʻiʻo o kou mau ʻiʻo a me ka ʻōnaehana musculoskeletal.
Ua maopopo iā ʻoe ke ʻano o kēlā inoa lōʻihi i kēia manawa?
Pehea ka hopena o ka Tumoral Calcinosis i ke kino?
ʻO kēia mau puʻupuʻu, i kapa ʻia ʻo tumoral calcinosis , e hana pinepine ʻia ma lalo o ka ʻili, kokoke i nā hono . Hiki iā lākou ke ulu ma mua o hoʻokahi hono, akā hiki nō hoʻi iā lākou ke ulu ma nā hono he nui. ʻO nā wahi maʻamau:
- Nā hono ʻūhā
- Nā kuʻekuʻe lima
- Nā poʻohiwi
- Lalo
- Nā hono o ka pulima
- Pili i ke kaula kuamoʻo
- ʻĀpana ʻauwae
Pehea ka maʻamau o kēia ʻano?
ʻAʻole maopopo i nā loea lapaʻau i ka nui o ka poʻe i loaʻa i kēia tumoral calcinosis. Ma muli o kahi maʻi kakaikahi loa , ʻoi aku ka maʻamau i ka poʻe o ka hanauna ʻApelika a me ka Hikina Waena. Hiki iā ia ke hoʻopilikia i nā kāne a me nā wahine.
He aha nā ʻano nui o ka Tumoral Calcinosis?
ʻO ke ʻano maʻamau o kēia ʻo Hyperphosphatemic Familial Tumoral Calcinosis, a mākou i kūkākūkā ai ma mua. Eia kekahi, aia kekahi mau ʻano kakaikahi ʻē aʻe:
- ʻO ka maʻi Hyperphosphatemia-hyperostosis (HHS): He ʻano kēia e hoʻoulu ai i ka ulu nui ʻana o ka iwi a me ka ulu ʻana o nā ʻeha iwi ʻaʻole maʻi kanesa.
- ʻO Normophosphatemic tumoral calcinosis: ʻIke pinepine ʻia kēia ʻano i nā poʻe me ka hāʻule ʻana o nā puʻupaʻa. Hiki iā ia ke hana i kahi kūlana i kapa ʻia ʻo hyperparathyroidism, ʻo ia hoʻi kahi kelepa parathyroid overactive.
He aha ke kumu o ka Tumoral Calcinosis?
ʻO ka tumor calcinosis kahi maʻi metabolic i hoʻoilina ʻia . Ma kahi o ka hapakolu o ka poʻe me kēia maʻi he loli, a i ʻole mutation, i kā lākou gene FGF23. Kōkua ka gene FGF23 i ko mākou mau iwi e hana i kahi protein i kapa ʻia ʻo fibroblast growth factor (FGF) 23. Loaʻa i kekahi poʻe ke ʻano ma muli o nā loli i nā genes GALNT3 a me KL. Hoʻomalu kēia mau genes i ka hana ʻana o FGF23. Loaʻa i ka poʻe me ka nomophosphatemic tumor calcinosis kahi mutation i loko o ka gene SAMD9.
ʻO ka maʻamau, haʻi ka protein `FGF23` i ko kākou mau puʻupaʻa i ka nui o ka phosphate e omo hou ai mai ke koko. Akā i ka wā e loaʻa ai kahi mutation genetic, hele hewa kēia kaʻina hana. A laila omo hou nā puʻupaʻa i ka phosphate ma mua o ka mea e pono ai. ʻO ka maʻamau, hoʻokuʻu nā puʻupaʻa i ka phosphate keu i loko o ka mimi. Akā i ka tumoral calcinosis, hoʻopaʻa kēia phosphate i ka calcium a hana i nā tumors i loko o nā ʻiʻo palupalu.
ʻO wai ka mea i pilikia i ka loaʻa ʻana o kēia maʻi?
He maʻi autosomal recessive ka tumorous calcinosis. He mea paʻakikī iki kēia e hoʻomaopopo, akā ma nā huaʻōlelo maʻalahi, i mea e loaʻa ai iā ʻoe ka maʻi, pono ʻoe e hoʻoilina i ka mutation gene mai kou mau mākua ʻelua. Hiki i kou mau mākua ke lilo i mau mea lawe o ka mutation, akā ʻaʻole paha lākou i loaʻa i ka maʻi.
Inā he mau mea lawe nā mākua ʻelua, loaʻa i kēlā me kēia o kā lāua mau keiki nā kūlana penei:
- Aia he 1 i loko o 4 manawa kūpono ʻole o ka loaʻa ʻole o ka gene mutated (ʻaʻohe pilikia o ka loaʻa ʻana o ka maʻi).
- Aia he 1 i loko o 4 manawa kūpono e loaʻa ai ka tumoral calcinosis.
- Aia he 1 i loko o 2 ka manawa kūpono e lilo i mea lawe i ka maʻi akā ʻaʻole i loaʻa i ka maʻi.
He aha nā hōʻailona o ka Tumoral Calcinosis?
ʻO kēia kūlana ke kumu o nā puʻupuʻu o nā nui like ʻole e hana kokoke i hoʻokahi a ʻoi aku paha mau hono. ʻIke pinepine ʻia kēia mau puʻupuʻu i ka wā kamaliʻi a i ʻole ka wā ʻōpio . Eia nō naʻe, hiki iā lākou ke ulu i nā pēpē a me nā pākeke. I kekahi manawa, he kakaikahi wale nō nā puʻupuʻu e ulu i ke ola holoʻokoʻa. A i ʻole, hiki ke ulu aʻe nā puʻupuʻu he nui i ka manawa hoʻokahi.
Loaʻa paha iā ʻoe nā hōʻailona e like me kēia:
- Ka paʻakikī e hoʻoneʻe a kulou paha i ka hui i hoʻopilikia ʻia me ke kūpono.
- Nā puʻupuʻu paʻakikī a ʻeha ʻole (hiki i kekahi mau puʻupuʻu ke ʻeha iki ke pā aku).
- ʻEha musculoskeletal.
Pehea e ʻike ʻia ai ka Tumoral Calcinosis?
He kauka orthopedist ka mea loea i nā pilikia o ka iwi a me nā hono. E nānā ʻo ia iā ʻoe a nīnau e pili ana i kāu mau hōʻailona. A laila hiki iā ia ke hana i hoʻokahi a ʻoi aku paha o nā X-ray e nānā ai i kēia mau puʻupuʻu a me nā pilikia iwi ʻē aʻe:
- Hoʻokolohua X-ray `(X-ray)`
- Nānā CT
- ʻO ke kiʻi MRI `(MRI)`
He aha nā kūlana ʻē aʻe e hōʻike ana i nā hōʻailona like me Tumoral Calcinosis?
He mea nui loa kēia. No ka mea , he mea nui ka loaʻa ʻana o kahi hōʻailona pololei . ʻO ke kumu, aia kekahi mau kūlana ʻē aʻe e hōʻike ana i nā hōʻailona like, akā ʻoi aku ka koʻikoʻi. ʻO kekahi o kēia mau kūlana:
- Nā puʻupuʻu palupalu maikaʻi a me nā puʻupuʻu palupalu ʻino
- ʻO ka myonecrosis calcific (kahi puʻupuʻu o nā waihona calcium i loko o nā ʻiʻo wāwae)
- ʻO ke tendonitis calcific (nā waihona calcium me ka tendonitis)
- ʻO Calcinosis circumscripta (nā waihona calcium i loko o ka ʻili a me nā ʻiʻo o nā lima a me nā wāwae)
- ʻO ke kalikosis o ka hāʻule ʻana o nā puʻupaʻa mau loa (nā waihona kalikoma i loko o ka poʻe ma ka dialysis)
- ʻO Calcinosis universalis (ka waiho ʻana o nā paʻakai calcium i loko o ka ʻili, nā ʻiʻo, nā tendon, a me nā ʻiʻo)
- Nā maʻi pili pili
- ʻO ka ʻōpū
- ʻO ka Myositis ossificans (ka lilo ʻana o ke ʻiʻo i iwi)
- ʻO ka Osteosarcoma a me ka sarcoma (nā maʻi ʻaʻai iwi)
- ʻO ka chondromatosis synovial (nā nodules cartilage i loko o nā hono)
ʻIke ʻoe? ʻOiai like nā hōʻailona, hiki ke ʻokoʻa loa ke kumu. No laila he mea nui e ʻike pono i ka mea e hana nei.
He aha nā lāʻau lapaʻau ʻoki ʻole?
Hiki i kāu kauka ke hoʻohaʻahaʻa i ka nui o ka phosphate i loko o kou koko.Hiki ke kuhikuhi ʻia nā lāʻau lapaʻau e hoʻopaʻa ana i ka phosphate. Ke hui pū ʻia kēia mau lāʻau lapaʻau e hoʻopaʻa ana i ka phosphate me kahi lāʻau i kapa ʻia ʻo acetazolamide (hoʻohana pinepine ʻia no ka maʻi epilepsy a me ka glaucoma), hiki iā lākou ke ālai i ka hiki o ke kino ke omo i ka phosphorus. Pono paha ʻoe e ʻai i kahi meaʻai haʻahaʻa i ka phosphorus .
He aha ka papaʻai haʻahaʻa phosphorus?
Inā loaʻa iā ʻoe ka tumoral calcinosis, hiki i kāu kauka ke ʻōlelo aku i kahi papaʻai haʻahaʻa i ka phosphorus. Loaʻa maoli ka Phosphorus i ka ʻiʻo, ka iʻa, a me nā huahana waiū. Hoʻohui ʻia ka Phosphorus i kekahi mau meaʻai ʻē aʻe ma ke ʻano he mea mālama a mea ʻono paha.
E ho'āʻo e hōʻemi i nā meaʻai a me nā mea inu i kiʻekiʻe i ka phosphorus, e like me:
- Pia, kola, tī hau a me nā mea inu kokoleka.
- Nā ʻano kokoleka a me nā caramel.
- Nā meaʻai waiū (waiū, tīhi, ʻaikalima, nā yogurts ʻaʻole Helene, nā sopa momona).
- Nā meaʻai kai e like me nā ʻoysters a me nā sardines, a me nā ʻōpū o loko e like me ka pipi a me ke akepaʻa moa.
- Nā ʻiʻo i hana ʻia (nā ʻīlio wela, ʻiʻo ʻaina awakea, puaʻa, sausage).
- Nā huahana i hana ʻia mai ka ʻuala oat.
He mea maikaʻi ke kamaʻilio me kāu kauka a meaʻai meaʻai paha e pili ana i kēia no ka ʻike hou aku.
He aha nā ʻano hana lapaʻau?
Pono paha ʻoe i ke ʻoki ʻana e wehe i nā puʻupuʻu nui loa e hana pono ai. Eia nō naʻe, ʻoi aku ka nui o ka ulu ʻana o kēia mau puʻupuʻu . Hiki i kāu kauka ke lawe i kahi hāpana o ka ʻiʻo i wehe ʻia a hana i kahi biopsy e hōʻoia i ka hōʻailona.
He aha nā pilikia e hiki ke loaʻa mai ka Tumoral Calcinosis?
I ka hapanui pinepine, hiki i kēia maʻi ke hoʻopilikia i kou mau kīʻaha koko a i ʻole ka lolo, e hoʻonui ana i kou pilikia o nā pilikia olakino koʻikoʻi e like me ka hōʻeha puʻuwai a me ka hahau.
Eia kekahi, hiki i kēia ʻano ke hana i kēia mau mea:
- ʻO nā calcifications corneal a i ʻole nā streaks angioid (nā streaks ʻulaʻula) ma ka cornea o nā maka.
- Nā pilikia niho.
- Ka ulu nui ʻana o ka iwi (hyperostosis).
- Ka mumū ʻana i nā iwi lōʻihi (diaphysis) ma kou mau wāwae a i ʻole nā lima.
Hiki ke pale ʻia ka Tumoral Calcinosis?
Inā loaʻa iā ʻoe a me kāu hoa ka mutation gene e hoʻoulu ai i ka tumoral calcinosis, hiki iā ʻoe ke kamaʻilio me kahi kākāʻōlelo genetic e pili ana i nā ala e hōʻemi ai i ka pilikia o kāu mau keiki e hoʻoilina i ka mutation. Koho kekahi poʻe i kahi kaʻina hana i kapa ʻia ʻo Preimplantation Genetic Diagnosis (PGD) . Pili kēia i ka ʻike ʻana i nā embryos i loaʻa ʻole ka mutation. A laila hoʻohana kāu kauka i kahi kaʻina hana i kapa ʻia ʻo In Vitro Fertilization (IVF) e hoʻoili i nā embryos olakino i loko o ka ʻōnaehana hānau o ka wahine. Me kēia kaʻina hana, ʻaʻole e hoʻoilina kāu keiki i ka mutation gene e hoʻoulu ai i ka maʻi.
He aha ka manaʻo no kekahi me ka Tumoral Calcinosis?
ʻO ka hapa nui o ka poʻe me ka tumoral calcinosis e ola piha a hana . ʻAʻole pinepine kēia kūlana i nā pilikia olakino koʻikoʻi. Eia nō naʻe, pono ʻoe e ʻike pinepine i kāu kauka e nānā i nā hoʻi hou ʻana.
Āhea wau e ʻike ai i ke kauka?
E ʻike i ke kauka inā loaʻa iā ʻoe kēia mau hōʻailona:
- Ka emi ʻana o ka laulā o ka neʻe ʻana i loko o kahi hui.
- ʻEha hui, ʻeha iwi, a ʻeha ʻiʻo paha.
- ʻO ke ʻano o kahi puʻupuʻu a i ʻole kahi puʻupuʻu ma lalo o ka ʻili.
He aha kaʻu e nīnau aku ai i kaʻu kauka?
Hiki iā ʻoe ke nīnau i ke kauka i nā nīnau penei:
- No ke aha i loaʻa ai iaʻu ka tumoral calcinosis?
- He aha ka lāʻau lapaʻau maikaʻi loa noʻu?
- Pono anei au i ke ʻoki kino?
- He aha nā ʻano meaʻai e pono iaʻu e hōʻemi?
- Pono anei au e hopohopo e pili ana i nā pilikia?
- Pono anei ke koena o koʻu ʻohana e hana i ka hoʻāʻo genetic?
Hiki i ka Tumoral Calcinosis ke lilo i Kanesa?
ʻOiai ka huaʻōlelo "tumoral" ma ka inoa, ʻo nā ʻōpū e ulu ana ma muli o ka tumoral calcinosis ʻaʻole ia he maʻi kanesa . ʻAʻohe pilikia o ka lilo ʻana o kēia mau ʻōpū i mea ʻino. No laila, mai hopohopo no ia mea.
He ʻoiaʻiʻo he mea ʻoluʻolu ʻole a weliweli hoʻi nā puʻupuʻu ma lalo o ka ʻili ma muli o ka tumoral calcinosis. Akā no ka hapa nui o ka poʻe, ʻaʻole kēia mau puʻupuʻu e hoʻoulu i nā pilikia nui. Hiki i ka lāʻau lapaʻau ke hoʻohaʻahaʻa i ka pae phosphorus i loko o ke koko. Hiki i kāu kauka ke ʻōlelo aku iā ʻoe e ʻike i kahi meaʻai meaʻai e kōkua iā ʻoe e ʻai i ka meaʻai haʻahaʻa-phosphorus. Inā loaʻa iā ʻoe ka ʻeha i kou mau hono, iwi, a i ʻole nā ʻiʻo e kaupalena ana i kou neʻe ʻana, e haʻi i kāu kauka. ʻOiai hiki ke wehe ʻia nā puʻupuʻu me ke ʻoki ʻana, e hoʻomanaʻo e hiki iā lākou ke hoʻi hou mai.
Leka Lawe-Home (Nā Mea e Hoʻomanaʻo ai)
ʻAe, e hōʻuluʻulu kākou i nā mea nui a mākou i kūkākūkā ai i kēia lā e pili ana i ka Tumoral Calcinosis:
- He maʻi hoʻoilina laha ʻole kēia. ʻO ka piʻi ʻana o ka phosphate i loko o ke koko ke kumu e hui pū ai lākou me ka calcium e hana i nā puʻupuʻu kokoke i nā hono.
- ʻAʻole kēia mau puʻupuʻu he maʻi kanesa .
- ʻAʻohe ʻeha pinepine kēia, akā hiki ke hoʻopilikia i ka neʻe ʻana o nā hono.
- ʻO ka lāʻau lapaʻau e komo pū ana me nā lāʻau hoʻohaʻahaʻa phosphate, kahi papaʻai haʻahaʻa-phosphorus, a inā pono, ke ʻoki kino.
- Inā ʻike ʻoe i kahi puʻupuʻu e like me kēia, mai hopohopo a e ʻimi i ke kōkua lapaʻau. He mea nui loa ka loaʻa ʻana o kahi hōʻoia pololei.
- Nui ka poʻe e ola maʻamau a hana me kēia maʻi.
No laila, inā loaʻa iā ʻoe a i ʻole kekahi āu i ʻike ai kēia mau hōʻailona, ʻoi aku ka maikaʻi o ke kipa ʻana i ke kauka no ka ʻōlelo aʻo.
ʻO ka calcinosis puʻupuʻu, nā cysts hui, ka phosphate, ka calcium, nā maʻi genetic, nā nodules ʻili, nā maʻi iwi
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