| Abderhalden-Kaufmann-Lignac syndrome | |
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| Classification and external resources | |
| ICD-9 | 270.0 |
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.
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It is named for Emil Abderhalden, Eduard Kaufmann and George Lignac.[1][2]
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.
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