|
Disclaimer:
Whonamedit.com does not give medical advice.
This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor.
|
A recommendation:
Hypography is an open community about science and all things related
|
|
|
Fanconi's syndrome I
Also known as:
Fanconi’s syndrome III
Associated persons:
Guido Fanconi
Description:
An autosomal dominant disease reported in children and young adults. It may exist as an isolated nephropathy or in combination with involvement of other organs. Characteristics are polydipsia, polyuria and nuycturia. Later there is low blood glucose and high electrolyte levels, and signs of glomerular failure marked by increased urinary nitrogen and blood phosphorus. Eye symptoms are night blindness followed by progressive constriction of peripheral fields and, finally, blurred vision. Blood pressure usually normal until late stage of disease. Etiology unknown. Neurological problems may include mental retardation, seizures, and cerebellar ataxia. Death usually occur within 4-5 years of onset.
Bibliography:
- G. Fanconi, E. Hanhart, A. von Albertini, et al:
Die familiäre juvenile Nephronophthise.
Helvetica Chirurgica Acta, Basel, 1951, 6: 1-49.
|
|
|
