Abderhalden-Kaufmann-Lignac syndrome
| Abderhalden-Kaufmann-Lignac syndrome | |
| ICD-9 | 270.0 |
|---|---|
Template:Abderhalden-Kaufmann-Lignac syndrome
Synonyms and keywords: Abderhalden-Lignac-Kaufmann disease; nephropathic cystinosis
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.
