| Abderhalden–Kaufmann–Lignac syndrome | |
|---|---|
| Other names | Abderhalden–Lignac–Kaufmann disease |
 | |
| Abderhalden–Kaufmann–Lignac syndrome has an autosomal recessive pattern of inheritance. | |
Abderhalden–Kaufmann–Lignac syndrome (AKL 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
Eponym
It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.