Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.

Thumfart, Julia; Weschke, Bernhard; Ringe, Hannelore; Weinhold, Natalie; Müller, Dominik

Thumfart, Julia; Weschke, Bernhard; Ringe, Hannelore; Weinhold, Natalie; Müller, Dominik.

Affiliation

Thumfart J; Department of Pediatric Nephrology, Charité, Berlin, Germany. Electronic address: julia.thumfart@charite.de.
Weschke B; Department of Pediatric Neurology, Charité, Berlin, Germany.
Ringe H; Department of Pediatric Pneumology and Intensive Care, Charité, Berlin, Germany.
Weinhold N; Department of Pediatric Gastroenterology and Metabolic Diseases, Charité, Berlin, Germany.
Müller D; Department of Pediatric Nephrology, Charité, Berlin, Germany.

Eur J Paediatr Neurol ; 20(4): 649-51, 2016 Jul.

Article in En | MEDLINE | ID: mdl-27185581

Subject(s)

Acute Kidney Injury/etiology; Hyperuricemia/etiology; Lesch-Nyhan Syndrome/complications; Tuberous Sclerosis/complications; Acute Kidney Injury/therapy; Allopurinol/therapeutic use; Developmental Disabilities/etiology; Dystonia/etiology; Exons; Fluid Therapy; Gout Suppressants/therapeutic use; Humans; Hyperuricemia/drug therapy; Hypoxanthine Phosphoribosyltransferase/genetics; Infant; Lesch-Nyhan Syndrome/diagnosis; Lesch-Nyhan Syndrome/drug therapy; Lesch-Nyhan Syndrome/genetics; Male; Phenotype; Seizures/etiology; Urate Oxidase/therapeutic use

Key words

Acute renal failure; Lesch-Nyhan disease; Rasburicase; Tuberous sclerosis complex

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Tuberous Sclerosis / Hyperuricemia / Acute Kidney Injury / Lesch-Nyhan Syndrome Type of study: Diagnostic_studies / Etiology_studies Limits: Humans / Infant / Male Language: En Journal: Eur J Paediatr Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2016 Document type: Article Country of publication: United kingdom

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