Article
Acute renal failure unmasking Lesch-Nyhan disease in a patient with tuberous sclerosis complex.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2016
Thumfart Julia, Weschke Bernhard, Ringe Hannelore, Weinhold Natalie, Müller Dominik
Abstract excerpt
CASE REPORT: 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...
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