Abderhalden-Kaufmann-Lignac syndrome

Abderhalden-Kaufmann-Lignac syndrome
ICD-9	270.0

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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.

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.

File:Autorecessive.svg

See also

• cystinosin