title: Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
abstract: METHODS
  We report on a male patient with Tuberous Sclerosis Complex (TSC), which was prenatally diagnosed. At the age of 3 months the patient developed acute renal failure with excessive hyperuricemia. Kidney function improved after rehydration and application of rasburicase, however without full recovery. Due to the inappropriate high levels of uric acid compared to kidney function, screening of hypoxanthine-guanine phosphoribosyltransferase (HPRT) related diseases was initiated. Mutation analysis revealed a deletion of exon 2 and 3 of the HPRT gene confirming the diagnosis of Lesch-Nyhan Disease (LND). After initiation of allopurinol therapy renal function further improved. In the following months the patient developed clinically a typical neurological phenotype of LND and TSC with seizures, severe dystonia and developmental delay.
  
  
  CONCLUSIONS
  Acute renal failure is a rare complication of HPRT related diseases. Combination of two inherited diseases may lead to a delayed diagnosis due to a mixed and maybe misleading phenotype.
authors.affiliation: Department of Pediatric Nephrology, Charité, Berlin, Germany. Electronic address: julia.thumfart@charite.de.
authors.forename: Julia
authors.initials: J
authors.lastname: Thumfart
authors.affiliation: Department of Pediatric Neurology, Charité, Berlin, Germany.
authors.forename: Bernhard
authors.initials: B
authors.lastname: Weschke
authors.affiliation: Department of Pediatric Pneumology and Intensive Care, Charité, Berlin, Germany.
authors.forename: Hannelore
authors.initials: H
authors.lastname: Ringe
authors.affiliation: Department of Pediatric Gastroenterology and Metabolic Diseases, Charité, Berlin, Germany.
authors.forename: Natalie
authors.initials: N
authors.lastname: Weinhold
authors.affiliation: Department of Pediatric Nephrology, Charité, Berlin, Germany.
authors.forename: Dominik
authors.initials: D
authors.lastname: Müller
mesh_terms: D058186:Acute Kidney Injury / Q000209:etiology* / Q000628:therapy; D000493:Allopurinol / Q000627:therapeutic use; D002658:Developmental Disabilities / Q000209:etiology; D004421:Dystonia / Q000209:etiology; D005091:Exons; D005440:Fluid Therapy; D006074:Gout Suppressants / Q000627:therapeutic use; D006801:Humans; D033461:Hyperuricemia / Q000188:drug therapy / Q000209:etiology*; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics; D008297:Male; D010641:Phenotype; D012640:Seizures / Q000209:etiology; D014402:Tuberous Sclerosis / Q000150:complications*; D014503:Urate Oxidase / Q000627:therapeutic use
chemical_list: D006074:Gout Suppressants; C469709:rasburicase; D000493:Allopurinol; D014503:Urate Oxidase; D007041:Hypoxanthine Phosphoribosyltransferase
keywords: Acute renal failure; Lesch-Nyhan disease; Rasburicase; Tuberous sclerosis complex