Fanconi maʻi maʻi

ʻO Fanconi Syndrome kahi maʻi o nā puʻupaʻa kolohe kahi e komo mau ai kekahi mau mea i loko o ke koko e nā puʻupaʻa i loko o ka mimi ma kahi.

Hiki ke kumu ʻia ʻo Fanconi Syndrome e nā ʻāpana hewa, a i ʻole hopena paha ia ma hope o ke ola ma muli o ka hōʻino ʻana o ka hakuʻala. I kekahi manawa ʻaʻole maopopo ke kumu o ka maʻi ʻo Fanconi.

ʻO nā kumu maʻamau o ka maʻi Fanconi i loko o nā keiki he kīnā kīnā ʻole e hoʻopili i ka hiki i ke kino ke wāwahi i kekahi mau hui e like me:

• Cystine (cystinosis)
• Fructose (fructose intolerance)
• Galactose (galactosemia)
• ʻO Glycogen (maʻi mālama glycogen)

ʻO Cystinosis ke kumu maʻamau o ka maʻi maʻi Fanconi i nā keiki.

ʻO nā kumu ʻē aʻe i nā keiki:

• Hōʻike i nā metala kaumaha e like me ke kēpau, mercury, a i ʻole cadmium
• ʻO ka maʻi ʻo Lowe, kahi maʻi laha ʻole o nā maka, ka lolo, a me nā puʻupaʻa
• Maʻi ʻo Wilson
• Maʻi Dent, kahi ʻano laha ʻole o nā ʻōiwi

I nā poʻe mākua, hiki i ka maʻi ʻo Fanconi e hoʻokumu ʻia e nā mea like ʻole e hōʻino ai i nā puʻupaʻa, e like me:

• ʻO kekahi mau lāʻau, e like me azathioprine, cidofovir, gentamicin, a me tetracycline
• Ke kuʻi ʻōhua
• ʻO ka maʻi waiho no ke kaulahao māmā
• Myeloma lehulehu
• Amyloidosis kumu

ʻO nā hōʻailona me:

• Ke hele nei i ka nui o ka mimi, hiki ke alakaʻi i ka make wai
• Make wai nui loa
• ʻEha iwi ʻino
• Nā haki ma muli o ka nāwaliwali o ka iwi
• Nāwaliwali ka ʻiʻo

Hōʻike paha nā hoʻokolohua Laboratory i ka nui o nā mea i hiki ke nalowale i ka mimi.

• ʻAkika amino
• ʻO Bicarbonate
• Glucose
• Makanekiuma
• Phosphate
• Pāpaʻakai
• Sodoma
• ʻAkika Uric

ʻO ka lilo o kēia mau mea hiki ke alakaʻi i nā pilikia like ʻole. Hōʻike nā hōʻike hou a me kahi hoʻokolohua kino i nā hōʻailona o:

• Dehydration ma muli o ka nui loa urination
• Hewa ulu
• ʻO Osteomalacia
• Rikeke
• ʻAno 2 renal tubular acidosis

Hiki i nā ʻano maʻi like ʻole ke kumu i ka maʻi ʻo Fanconi. Pono e mālama ʻia ke kumu a me nā ʻōuli e like me ke kūpono.

Pili ka wānana i ka maʻi maʻi.

Kāhea i kāu mea mālama ola inā loaʻa ʻoe i ka wai maloʻo a i ʻole nāwaliwali nāʻiʻo.

ʻO De Toni-Fanconi-Debré Syndrome

• Anatomia hakuʻala

Bonnardeaux A, Bichet DG. ʻO nā maʻi hoʻoilina o ka tubule renal. I: Yu ASL, Chertow GM, Luyckx VA, Marsden PA, Skorecki K, Taal MW, eds. ʻO Brenner a me Rector's The Kidney. 11th hua. Piladelapia, PA: Elsevier; 2020: chap 44.

ʻO Foreman JW. ʻO Fanconi Syndrome a me nā maʻi tubule proximal. I: Feehally J, Floege J, Tonelli M, Johnson RJ, eds. Nā Nephrology Haumāna piha. ʻElua huaʻōlelo Piladelapia, PA: Elsevier; 2019: chap 48.