Abderhalden-Kaufmann-Lignac syndrome: Difference between revisions

	Abderhalden-Kaufmann-Lignac syndrome;
ICD-9	270.0

Revision as of 20:20, 28 September 2012

Synonyms and keywords: Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis

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.

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 {{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]].
 ==Presentation==

Abderhalden-Kaufmann-Lignac syndrome
ICD-9	270.0