Abderhalden-Kaufmann-Lignac syndrome
- Abderhalden-Kaufmann-Lignac syndrome
Infobox_Disease
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Abderhalden-Kaufmann-Lignac syndrome, also called Abderhalden-Lignac-Kaufmann disease or nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets.
Eponym
It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac. [B.G. Firkin & J.A.Whitworth (1987). "Dictionary of Medical Eponyms". Parthenon Publishing. ISBN 1-85070-333-7] [ [http://www.whonamedit.com/synd.cfm/57.html Who Named It?] ]
Presentation
Affected children are developmentally delayed with dwarfism, rickets and osteoporosis. Renal tubular disease is usually present causing aminoaciduria, glycosuria and hypokalemia.
Cysteine deposition is most evident in the conjunctiva and cornea.
ee also
* cystinosin
References
Wikimedia Foundation.
2010.
Look at other dictionaries:
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