Abderhalden–Kaufmann–Lignac syndrome

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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.

Eponym

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

See also

• Cystinosin

External links

Classification	ICD-10: E72.0+ N16.3* ICD-9-CM: 270.0 OMIM: 219800
External resources	Orphanet: 411629