Abderhalden Kaufman Lignac Syndrome

Information and facts about Eponymous diseases.

Abderhalden-Kaufman-Lignac syndrome is an autosomal recessive disease 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.

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