ʻO Porphyria

ʻO Porphyrias kahi hui o nā maʻi hoʻoilina maʻamau. ʻAʻole hana pono ʻia kahi ʻāpana nui o hemoglobin, i kapa ʻia heme. ʻO Hemoglobin kahi protein i loko o nā hunaola ʻulaʻula e lawe i ka oxygen. ʻIke ʻia ka Heme ma myoglobin, kahi protein i loaʻa i kekahi mau mākala.

ʻO ka maʻamau, hana ke kino i ka heme i loko o ke kaʻina hana he nui. Hana ʻia nā porphyrins i nā kaʻina he nui o kēia kaʻina. Loaʻa i ka poʻe me ka porphyria kekahi mau enzyme e pono ai no kēia kaʻina. ʻO kēia ke kumu o ka nui o nā porphyrins a i ʻole nā ​​kemika e pili ana e kūkulu i loko o ke kino.

Nui nā ʻano like ʻole o ka porphyria. ʻO ka ʻano maʻamau ka porphyria cutanea tarda (PCT).

ʻO nā lāʻau, maʻi, alkohol, a me nā hormoni e like me ka estrogen e hoʻoulu i nā hōʻeha o kekahi ʻano porphyria.

Hoʻoilina ʻo Porphyria. ʻO kēia ke kumu i hoʻoili ʻia ka maʻi i waena o nā ʻohana.

Hoʻokumu ʻo Porphyria i ʻekolu mau hōʻailona nui:

• ʻO ka ʻeha o ka ʻōpū a i ʻole ke ʻūlū (ʻana wale nō i kekahi ʻano o ka maʻi)
• Sensitivity i ka malamalama i hiki ke kumu rashes, blistering, a me scarring o ka ʻili (photodermatitis)
• Nā pilikia me ka ʻōnaehana a me nā mākala (ka hopu ʻana, nā haunaele noʻonoʻo, nā ʻāʻī nerve)

Hiki ke kū koke nā hoʻouka. Hoʻomaka pinepine lākou me ka ʻeha o ka ʻōpū nui a ukali ʻia e ka luaʻi a me ka constipation. Ke hele i waho i ka lā hiki ke hōʻeha i nā ʻeha, nā wela o ka wela, ka ʻeha ʻana, a me ka ʻulaʻula a me ka pehu ʻana o ka ʻili. Hoʻōla mālie nā pūlapaʻu, pinepine me ka scarring a i ʻole ka ʻili o ka ʻili e loli. Hoʻowahāwahā paha ka scarring. Hiki i ka mimi ke ʻulaʻula a ʻulaʻula paha ma hope o kahi hoʻouka.

ʻO nā ʻōuli ʻē aʻe e like me:

• ʻEha ʻeha
• Ka nāwaliwali o ka mākala a i ʻole ka palapū
• Pōpō a ʻālani paha
• ʻEha ma nā lima a me nā wāwae
• ʻEha ma ka hope
• Hoʻololi ka pilikino

Hiki i nā hoʻouka ke hoʻoweliweli i kekahi manawa, e hana ana:

• Kaomi haʻahaʻa
• Nā kaulike uila ʻole
• Pāhaʻi

E hana i kāu mea mālama ola i kahi hoʻokolohua kino, kahi e hoʻopili ai i ka hoʻolohe ʻana i kou puʻuwai. Loaʻa paha iā ʻoe ka wikiwiki wikiwiki o ka naʻau (tachycardia). E ʻike paha ka mea hāʻawi i kāu reflexes tendon hohonu (nā kuli a i ʻole nā ​​mea ʻē aʻe) ʻaʻole holo pono.

Hōʻike ke kīʻaha koko a me ka mimi i nā pilikia o ka hakuʻala a i ʻole nā ​​pilikia ʻē aʻe. ʻO kekahi o nā hoʻokolohua ʻē aʻe i hiki ke hana ʻia e:

• Nā kinoea koko
• Panela metabolic piha
• Nā pae porphyrin a me nā pae o nā kemika ʻē aʻe i pili i kēia ʻano (nānā ʻia i ke koko a i ʻole ka mimi)
• Ultrasound o ka ʻōpū
• Urinalysis

ʻO kekahi o nā lāʻau i hoʻohana ʻia e mālama i kahi hoʻouka kaua ʻana (porphyria) hikiwawe ke komo pū me:

• Hāʻawi ʻia ʻo Hematin ma o kahi aa (intravenously)
• Lapaʻau ʻeha
• Propranolol e kaohi i ka puʻuwai puʻuwai
• Nā sedatives e kōkua iā ʻoe e hōʻoluʻolu a me ka hopohopo ʻole

Hiki i nā mālama ʻē aʻe ke:

• Nā pākuʻi beta-carotene e hoʻoliʻiliʻi i ka photosensitivity
• ʻO Chloroquine i nā lāʻau haʻahaʻa e hoʻemi i nā pae o nā porphyrins
• Nā Fluids a me ka glucose e hoʻonui ai i nā pae kōbate, e kōkua ana i ka palena o ka hana ʻana o nā porphyrins
• ʻO ka hemo ʻana o ke koko (phlebotomy) e hōʻemi i nā pae o nā porphyrins

Kaukaʻi ʻia i ke ʻano o ka porphyria i loaʻa iā ʻoe, e haʻi paha kāu mea hāʻawi iā ʻoe e:

• Hōʻalo i nā ʻalekohola āpau
• Hōʻalo i nā lāʻau e hoʻonāukiuki paha i kahi hoʻouka
• Hōʻalo i ka hōʻeha ʻana i ka ʻili
• Hōʻalo i ka lā e like me ka hiki a hoʻohana i ka pale lā i waho
• ʻAi i kahi papaʻai carbohydrate kiʻekiʻe

Hiki i nā kumuwaiwai aʻe ke hāʻawi i ka ʻike hou aku ma porphyria:

• Ka Waihona American Porphyria Foundation - www.porphyriafoundation.org/for-patients/patient-portal
• National Institute of Diabetes and Digestive and Kidney Diseases - www.niddk.nih.gov/health-information/liver-disease/porphyria
• National Organization for Rare Disorder - rarediseases.org/rare-diseases/porphyria

ʻO Porphyria kahi maʻi lōʻihi o ke ola me nā ʻōuli e hele a hele. ʻO kekahi ʻano o ka maʻi ke kumu o nā ʻōuli ma mua o nā mea ʻē aʻe. ʻO ka loaʻa ʻana o ka lāʻau kūpono a me ka haʻalele ʻana i nā mea hoʻonāukiuki hiki ke kōkua i hoʻolōʻihi i ka manawa ma waena o nā hoʻouka.

Komo pū nā pilikia:

• Koma
• Nā Pohaku
• Pālolo
• ʻO ke kīnā ʻole hanu (ma muli o ka nāwaliwali o nā mākala o ka umauma)
• ʻArr ʻili o ka ʻili

E kiʻi i ke kōkua lapaʻau inā loaʻa nā hōʻailona o ka hoʻouka kaua nui. E kamaʻilio me kāu mea hāʻawi e pili ana i kāu makaʻikaʻi no kēia ʻano inā he moʻolelo lōʻihi kou no ka ʻeha o ka ʻōpū i hōʻike ʻole ʻia, nā pilikia o nā mākala a me nā aʻa, a me ka ʻike i ka lā.

Hiki ke kōkua i ka ʻōlelo aʻoaʻo genetic i ka poʻe makemake i nā keiki a loaʻa ka moʻolelo ʻohana o kēlā me kēia ʻano porphyria.

Porphyria cutanea tarda; Porphyria intermittent akomi; Coproporphyria hoʻoilina; Porphyria erythropoietic Congenital; Protoporphyria ʻErythropoietic

• ʻO Porphyria cutanea tarda ma nā lima

ʻO Bissell DM, Anderson KE, Bonkovsky HL. ʻO Porphyria. N Engl J Med. 2017; 377 (9): 862-872. PMID: 28854095 www.ncbi.nlm.nih.gov/pubmed/28854095.

ʻO Fuller SJ, Wiley JS. Heme biosynthesis a me kāna mau maʻi: porphyrias a me sideroblastic anemias. I: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Nā Kumumanaʻo a me ka Hoʻomeheu. ʻEpekema 7 Piladelapia, PA: Elsevier; 2018: chap 38.

ʻO Habif TP. Nā maʻi e pili ana i ka mālamalama a me nā maʻi o ka pigmentation. I: Habif TP, hoʻoponopono. ʻO Dermatology Haumana: Kahi Alakaʻi Kānana i ka Diagnosis a me ka Therapy. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2016: chap 19.

ʻO Rift RJ. Nā porphyrias. I: Goldman L, Schafer AI, eds. ʻO ka lāʻau lapaʻau Goldman-Cecil. 25th hua. Piladelapia, PA: Elsevier Saunders; 2016: chap 210.