He aha ka Fanconi Syndrome?

Anter

• Nā ʻōuli o ka maʻi ʻo Fanconi
• Nā kumu o ka maʻi Fanconi
• Hoʻoilina FS
• Loaʻa iā FS
• ʻIke o Fanconi maʻi
• Nā pēpē a me nā keiki me FS hoʻoilina
• Loaʻa iā FS
• Kuhi hewa pinepine
• Ka mālama ʻana i ka maʻi ʻo Fanconi
• Hoʻomaʻo Cystinosis
• Loaʻa iā FS
• ʻO Outlook no ka maʻi Fanconi

Hōʻike Overview

ʻO Fanconi Syndrome (FS) kahi maʻi laha ʻole e hoʻopili i nā paipu kānana (tubule proximal) o ka puʻupaʻa. E aʻo hou aʻe e pili ana i nā ʻāpana like ʻole o ka puʻupaʻa a ʻike i kahi kiʻi ma aneʻi.

ʻO ka maʻamau, hoʻopili hou nā tubules proximal i nā minelala a me nā meaola (metabolites) i loko o ke kahe o ke koko e pono ai no ka hana kūpono. I ka FS, hoʻokuʻu nā tubule proximal i kahi nui o kēia mau metabolites pono i ka mimi. ʻO kēia mau mea pono e pili pū me:

• wai
• glucose
• phosphate
• nā bicarbonates
• carnitine
• potasiuma
• ʻākika urika
• ʻākika amino
• kekahi mau polokina

Kānana kāu mau puʻupaʻa ma kahi o 180 liters (190.2 lita) o nā wai i kēlā me kēia lā. Ma mua o 98 pākēneka o kēia e pono e hele hou i loko o ke koko. ʻAʻole kēia ka hihia me FS. ʻO ka hopena o ka nele o nā pono pono metabolites hiki ke hoʻoulu i ka make wai, nā deformities o ka iwi, a me ka holomua ʻole.

Loaʻa nā lapaʻau i hiki ke lohi a paʻa paha ka holomua o FS.

Hoʻoilina pinepine ʻo FS. Akā hiki ke kiʻi ʻia mai kekahi mau lāʻau, kemikō, a i ʻole nā ​​maʻi.

Ua kapa ʻia ka inoa ma hope o ka pediatrician Swiss o Guido Fanconi, nāna i wehewehe ka maʻi i nā makahiki 1930. Ua wehewehe mua ʻo Fanconi i kahi anemia laha ʻole, Fanconi anemia. He kūlana ʻokoʻa loa kēia i pili ʻole i ka FS.

Nā ʻōuli o ka maʻi ʻo Fanconi

Hiki ke ʻike ʻia nā ʻōuli o ka hoʻoilina FS ma mua o ka wā kamaliʻi. Pākuʻi ʻia lākou:

• make wai nui loa
• urination nui loa
• ka luaʻi
• holomua ʻole
• ulu lohi
• nāwaliwali
• rikeke
• leo hoʻohaʻahaʻa haʻahaʻa
• nā mea pono ʻole o ke kole
• maʻi maʻi ʻōpū

Nā ʻōuli o ka loaʻa o FS me:

• maʻi maʻi iwi
• nāwaliwali o nā mākala
• hoʻoliʻiliʻi kō koko haʻahaʻa (hypophosphatemia)
• haʻahaʻa pae potasiuma koko (hypokalemia)
• ʻoi aku nā amino acid i ka mimi (hyperaminoaciduria)

Nā kumu o ka maʻi Fanconi

Hoʻoilina FS

ʻO Cystinosis ke kumu maʻamau o FS. He maʻi hoʻoili laha ʻole ia. I ka cystinosis, hōʻiliʻili ka cystine amino acid i loko o ke kino. ʻO kēia ke alakaʻi i ka ulu lohi a me ke ʻano o nā maʻi, e like me nā deformities o ka iwi. ʻO ke ʻano maʻamau a koʻikoʻi (a hiki i ka 95 pākēneka) ʻano o ka cystinosis i nā pēpē a pili iā FS.

Kuhi ʻia kahi loiloi 2016 ma 1 i kēlā me kēia 100,000 a 200,000 mau keiki hānau hou he cystinosis.

ʻO nā maʻi metabolic hoʻoilina ʻē aʻe i hiki ke pili pū me FS me:

• Lowe maʻi
• Maʻi ʻo Wilson
• hoʻoilina fructose hoʻoilina

Loaʻa iā FS

ʻO nā kumu o ka FS i loaʻa he ʻokoʻa. Pākuʻi ʻia lākou:

• pili i kekahi chemotherapy
• hoʻohana i nā lāʻau antiretroviral
• hoʻohana i nā lāʻau antibiotic

ʻO nā hopena ʻona mai nā lāʻau lapaʻau ke kumu maʻamau. ʻO ka maʻamau hiki ke mālama ʻia a hoʻohuli ʻia paha nā ʻōuli.

I kekahi manawa ʻaʻole maopopo ke kumu o ka loaʻa FS.

ʻO nā lāʻau anticancer e pili pū ana me FS:

• ifosfamide
• cisplatin a me ka carboplatin
• azacitidine
• merc laptopurine
• suramin (hoʻohana pū ʻia e mālama i nā maʻi parasite)

Hoʻokumu nā lāʻau ʻē aʻe i ka FS i kekahi mau kānaka, kaukaʻi ʻia i nā ana a me nā kūlana ʻē aʻe. Pākuʻi ʻia kēia mau mea:

• Nā tetracyclines pau ʻole. ʻO nā huahana wāwahi o nā antibiotic i pau i ka tetracycline ʻohana (anhydrotetracycline a me epitetracycline) hiki ke hana i nā hōʻailona FS i loko o nā lā.
• Aminoglycoside antibiotic. Hoʻopili kēia i ka gentamicin, tobramycin, a me amikacin. Hiki i ka 25 pākēneka o ka poʻe i mālama ʻia me kēia mau antibiotic e hoʻomohala i nā ʻōuli FS, e hōʻike ana i kahi loiloi 2013.
• Nā Anticonvulsants. ʻO kahi waikawa Valproic kekahi laʻana.
• Nā Antivirals. Hoʻopili kēia mau didanosine (ddI), cidofovir, a me adefovir.
• ʻAkika Fumaric. Mālama kēia lāʻau iā psoriasis.
• Ranitidine. Kēia lāʻau lapaʻau maʻi speptic ulcer.
• Boui-ougi-tou. ʻO kēia kahi lāʻau Kina i hoʻohana ʻia no ka momona.

ʻO nā kūlana ʻē aʻe e pili pū ana me nā ʻōuli o FS:

• hana mau, hana ʻona nui
• ʻōniu kelu
• ka hōʻike ʻana i nā metala kaumaha a me nā kemika hana
• nele ka wikamina D
• hoʻoliʻiliʻi kīhāpai
• myeloma maha
• amyloidosis

ʻAʻole wehewehe pono ʻia ke ʻano hana e pili ana me FS.

ʻIke o Fanconi maʻi

Nā pēpē a me nā keiki me FS hoʻoilina

ʻO ka maʻa mau ke ʻike ʻia nā ʻōuli o FS i ka wā kamaliʻi a me ka wā kamaliʻi. ʻIke paha nā mākua i ka make wai nui a lohi paha ma mua o ka ulu maʻamau. Loaʻa paha nā kamaliʻi i nā rikeke a me nā pilikia kīhāpai.

E kauoha ke kauka o kāu keiki i nā hoʻāʻo ʻana i ke koko a me ka mimi e nānā i nā mea kūpono ʻole, e like me ke kiʻekiʻe o ka glucose, nā phosphates, a i ʻole nā ​​amino acid, a kāpae ʻia i nā hiki ʻē aʻe Hiki iā lākou ke nānā no ka cystinosis e ka nānā ʻana i nā kolina a ke keiki me ka nānā ʻana i kahi ipukukui slit. ʻO kēia no ka hopena o ka cystinosis i nā maka.

Loaʻa iā FS

E noi aku kāu kauka no ka mōʻaukala olakino o kāu keiki, e like me nā lāʻau āu e lawe nei a kāu keiki paha, nā maʻi ʻē aʻe i loaʻa, a i ʻole nā ​​hōʻike hana. E kauoha pū lākou i nā hoʻokolohua koko a me ka mimi.

I ka loaʻa iā FS, ʻaʻole paha ʻoe e ʻike koke i nā ʻōuli. Hiki ke hōʻino ʻia nā iwi a me nā puʻupaʻa e ka manawa e hōʻike ʻia ai kahi kuhi.

Hiki i ka FS i loaʻa ke hoʻopili i ka poʻe i kēlā me kēia makahiki.

Kuhi hewa pinepine

Ma muli o ka maʻi maʻi maʻamau ʻo FS, ʻaʻole kamaʻāina paha nā kauka iā ia. Aia pū paha ʻo FS me nā maʻi ʻē aʻe e like me:

• cystinosis
• Maʻi ʻo Wilson
• Maʻi Dent
• Lowe maʻi

Hoʻohui ʻia nā hōʻailona i nā maʻi i ʻike pinepine ʻia, e like me ka maʻi diabetes 1. ʻO nā kuhi hewa ʻē aʻe e pili ana i kēia:

• Hiki ke pili i ka ulu ʻana i ka cystic fibrosis, malnutrisi mau, a me kahi thyroid overactive.
• Hiki ke hāʻawi ʻia ʻo Rickets i ka nele i ka wikamina D a i ʻole nā ​​ʻano rickets hoʻoilina.
• Hiki ke pili ʻia ka maʻi kīnā ʻole i kahi maʻi mitochondrial a i ʻole nā ​​maʻi ʻē aʻe.

Ka mālama ʻana i ka maʻi ʻo Fanconi

Pili ka mālama ʻana i ka FS ma muli o kona koʻikoʻi, kumu, a me ke kū ʻana o nā maʻi ʻē aʻe. ʻAʻole hiki ke hoʻōla maʻamau ʻo FS i kēia manawa, akā hiki ke kāohi ʻia nā ʻōuli. ʻO ka ʻike mua a me ka mālama ʻana, ʻoi aku ka maikaʻi o ka nānā.

No nā keiki me ka hoʻoilina FS, ka lālani mua o ka mālama ʻana e hoʻololi i nā mea pono e hoʻopau ʻia i ka nui e nā puʻupaʻa i hōʻino ʻia. ʻO ka pani hou ʻana i kēia mau mea ma ka waha a i ʻole ma ka hoʻopili ʻana. Hoʻopili pū kēia me ka hoʻololi o:

• uila uila
• nā bicarbonates
• potasiuma
• wikamina D
• phosphates
• wai (ke maloʻo ke keiki)
• nā minelala ʻē aʻe a me nā meaola

Paipai ʻia kahi papaʻai calorie kiʻekiʻe e mālama i ka ulu kūpono. Inā maikaʻi ʻole nā ​​iwi o ke keiki, hiki ke kāhea ʻia nā mea hoʻoponopono kino a me nā loea orthopedic.

ʻO ke kū ʻana o nā maʻi ʻē aʻe e koi paha i kahi lāʻau hou. ʻO kahi laʻana, paipai ʻia kahi papaʻai keleawe haʻahaʻa no nā poʻe me ka maʻi ʻo Wilson.

I ka cystinosis, hoʻonā ʻia ʻo FS me kahi transplant kidney maikaʻi ma hope o ka holo pono ʻole o ka hakuʻala. Ua manaʻo ʻia kēia he lapaʻau no ka maʻi paʻa, ma mua o ka mālama ʻana no FS.

Hoʻomaʻo Cystinosis

He mea nui e hoʻomaka i ka mālama ʻana i ka wā hiki loa no cystinosis. Inā mālama ʻole ʻia ʻo FS a me cystinosis, hiki i ke keiki ke loaʻa i ka hakuʻala ma ka makahiki 10.

Ua ʻae ka US Food and Drug Administration i kahi lāʻau e hōʻemi ana i ka nui o ka cystine i loko o nā hunaola. Hiki ke hoʻohana ʻia ʻo Cysteamine (Cystagon, Procysbi) me nā keiki, e hoʻomaka ana me kahi lāʻau haʻahaʻa a hana a hiki i kahi lāʻau mālama. Hoʻohiʻoni paha kāna hoʻohana i ka pono no ka transplant kidney no 6 a 10 mau makahiki. Eia nō naʻe, he maʻi ʻōnaehana ka cystinosis. Hiki iā ia ke kumu i nā pilikia me nā lālā ʻē aʻe.

ʻO nā ʻano lāʻau ʻē aʻe no ka cystinosis:

• kulu ka maka cysteamine e hoʻoliʻiliʻi i nā waihona cystine i ke kola
• pani hone ulu
• hoʻoliʻiliʻi hakuʻala

No nā keiki a me nā mea ʻē aʻe me FS, pono ka mākaʻikaʻi mau. He mea nui ia no ka poʻe me FS e kūlike i ka hāhai ʻana i kā lākou papa hana lapaʻau.

Loaʻa iā FS

Ke hoʻopau ʻia ka mea e hana ai iā FS a hoʻemi ʻia paha ka lāʻau, e ola nā puʻupaʻa i ka manawa. I kekahi mau hihia, hoʻomau mau ka hōʻino ʻana o ka hakuʻala.

ʻO Outlook no ka maʻi Fanconi

ʻOi aku ka maikaʻi o ka nānā aku iā FS i kēia lā ma mua o nā makahiki i hala aku nei, ʻoi aku ka pōkole o ke ola no nā poʻe me cystinosis a me FS i pōkole loa. ʻO ka loaʻa o ka cysteamine a me nā transplants kidney e hiki ai i nā poʻe he nui me FS a me cystinosis ke alakaʻi i nā ola maʻamau a ʻoi aku ka lōʻihi.

Ke hoʻomohala ʻia nei ka ʻenehana hou no ka nānā ʻana i nā keiki hānau hou a me nā pēpē no cystinosis a me FS. ʻO kēia ka mea e hiki ai i ka lāʻau lapaʻau ke hoʻomaka mua. Ke hoʻomau nei nō ka noiʻi ʻana e ʻike i nā hoʻoponopono hou a ʻoi aku ka maikaʻi, e like me nā transplants cell stem.