Abderhalden-Kaufmann-Lignac syndrome: Difference between revisions
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==Overview== | ==Overview== | ||
'''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]]. | '''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]]. | ||
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{{Nephrology}} | {{Nephrology}} | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
Revision as of 19:28, 8 August 2012
| Abderhalden-Kaufmann-Lignac syndrome | |
| ICD-9 | 270.0 |
|---|---|
Overview
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.[1][2]
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
- ↑ B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7
- ↑ Who Named It?