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. 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.
Renal tubular disease
Glucose in the urine
Low blood potassium levels
Cysteine deposits in conjunctiva of eye
Cysteine deposits in cornea