Abderhalden–Kaufmann–Lignac syndrome


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

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.

Diagnosis

Treatment

Eponym

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