Abderhalden–Kaufmann–Lignac syndrome

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Abderhalden–Kaufmann–Lignac syndrome
Autorecessive.svg
Abderhalden–Kaufmann–Lignac syndrome has an autosomal recessive pattern of inheritance.
Classification and external resources
ICD-10 E72.0+ N16.3*
ICD-9-CM 270.0
OMIM 219800
Orphanet 411629

Abderhalden–Kaufmann–Lignac syndrome (AKL syndrome), also called Abderhalden–Lignac–Kaufmann disease or nephropathic cystinosis, is an autosomal recessive renal disorder of childhood comprising cystinosis and renal rickets.

Presentation[edit]

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.

Diagnosis[edit]

Treatment[edit]

Eponym[edit]

It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.[1][2]

See also[edit]

References[edit]

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

External links[edit]