Abderhalden Kaufmann Lignac Syndrome

Nephropathic cystinosis


Type of disease: Rare Condition or Disease

Abderhalden Kaufmann Lignac syndrome is also called nephropathic cystinosis. This disorder, which causes damage to the kidneys and poor growth, typically appears in infancy. Kidneys that do not work properly can lead to loss of important salts and minerals in the body, and without these minerals the individual cannot grow as they should. Symptoms of this disorder include slow growth, excess thirst, dehydration, increased urination, soft bowed bones (rickets), and in some cases sensitivity to light. Nephropathic cystinosis is rare, and caused by mutation to both copies of a specific gene. The disease can be managed with specific medications to help improve kidney function and growth.

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