Abderhalden Kaufmann Lignac Syndrome

Common Name(s)

Abderhalden Kaufmann Lignac Syndrome

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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Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Abderhalden Kaufmann Lignac Syndrome" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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