Abderhalden-Kaufmann-Lignac syndrome: Difference between revisions
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{{Infobox_Disease | {{Infobox_Disease | ||
| Name = Abderhalden-Kaufmann-Lignac syndrome | | Name = Abderhalden-Kaufmann-Lignac syndrome | ||
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{{SK}} Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis | {{SK}} Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis | ||
==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]]. | |||
==Historical Perspective== | |||
It is named for [[Emil Abderhalden]], [[Eduard Kaufmann]] and [[George Lignac]].<ref>B.G. Firkin & J.A.Whitworth (1987). ''Dictionary of Medical Eponyms''. Parthenon Publishing. ISBN 1-85070-333-7</ref><ref>[http://www.whonamedit.com/synd.cfm/57.html Who Named It?]</ref> | |||
==History and Symptoms== | |||
===Presentation=== | |||
Affected children are developmentally delayed with [[dwarfism]], [[osteomalacia|rickets]] and [[osteoporosis]]. Renal tubular disease is usually present causing [[Acquired renal aminoaciduria|aminoaciduria]], [[glycosuria]] and [[hypokalemia]].[[Cysteine]] deposition is most evident in the [[conjunctiva]] and [[cornea]]. | |||
[[Image:autorecessive.svg|thumb|left|Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.]] | |||
==Related Chapters== | ==Related Chapters== | ||
* [[Cystinosin]] | * [[Cystinosin]] | ||
Revision as of 23:55, 29 September 2012
| Abderhalden-Kaufmann-Lignac syndrome | |
| ICD-9 | 270.0 |
|---|---|
Template:Abderhalden-Kaufmann-Lignac syndrome
Synonyms and keywords: Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis
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.
Historical Perspective
It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.[1][2]
History and Symptoms
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.
Related Chapters
References
- ↑ B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7
- ↑ Who Named It?