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Abderhalden–Kaufmann–Lignac syndrome

Abderhalden-Kaufmann-Lignac syndrome
Classification and external resources
ICD-9 270.0
NCI Abderhalden–Kaufmann–Lignac syndrome
Patient UK Abderhalden–Kaufmann–Lignac syndrome
File:Autorecessive.svg
Abderhalden-Kaufmann-Lignac syndrome has an autosomal recessive pattern of inheritance.

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.

Eponym

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

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.

See also

References

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


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