Abderhalden-Kaufmann-Lignac syndrome

Synonyms and keywords: 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.

Historical Perspective

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

History and Symptoms

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

Related Chapters

Cystinosin

References

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

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[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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