nephropathic
Abderhalden-Kaufmann-Lignac syndrome
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.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.
See also
References
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Last updated on Sunday January 27, 2008 at 15:21:54 PST (GMT -0800)
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This article is licensed under the GNU Free Documentation License.
Last updated on Sunday January 27, 2008 at 15:21:54 PST (GMT -0800)
View this article at Wikipedia.org - Edit this article at Wikipedia.org - Donate to the Wikimedia Foundation
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