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]]. | ||
==Presentation== | ==Presentation== | ||
Revision as of 20:19, 28 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.
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.
