Abderhalden-Kaufmann-Lignac syndrome

Abderhalden-Kaufman-Lignac syndrome is an autosomal recessive disease of childhood comprising cystinosis and renal rickets.

It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.

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.

References

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