Abderhalden-Kaufmann-Lignac syndrome

Jump to: navigation, search
Abderhalden-Kaufmann-Lignac syndrome
ICD-9 270.0

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


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


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.

Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.

Related Chapters


  1. B.G. Firkin & J.A.Whitworth (1987). Dictionary of Medical Eponyms. Parthenon Publishing. ISBN 1-85070-333-7
  2. Who Named It?