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Wilson Disease Comorbid with Hereditary Sensory Autonomic Neuropathy Type IV and Gitelman Syndrome

 ( Kim Ju-Young ) - Seoul National University Bundang Hospital Department of Pediatrics

 ( Park Sung-Sup ) - Seoul National University Hospital Department of Laboratory Medicine
 ( Yang Hye-Ran ) - Seoul National University Bundang Hospital Department of Pediatrics

Abstract


Wilson disease a rare autosomal recessive inherited disorder of copper metabolism, is characterized by excessive deposition of copper in the liver, brain, and other tissues. Wilson disease is often fatal if it is not recognized early and treated when it is symptomatic. Gitelman syndrome is also an autosomal recessive kidney disorder characterized by low blood levels of potassium and magnesium, decreased excretion of calcium in the urine, and elevated blood pH. Hereditary sensory autonomic neuropathy type IV (HSAN-IV), a very rare condition that presents in infancy, is characterized by anhidrosis, absence of pain sensation, and self-mutilation. It is usually accompanied by developmental delay and mental retardation. We report a case of Wilson disease manifested as fulminant hepatitis, acute pancreatitis, and acute kidney injury in a 15-year-old boy comorbid with HSAN-IV and Gitelman syndrome. Such concurrence of three genetic diseases is an extremely rare case.

키워드

Wilson disease; Hereditary sensory autonomic neuropathy type IV; Gitelman syndrome; Recessive gene
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