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Pediatric Nephrology

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01.02.2008 | Brief Report

Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure

verfasst von: Hubert Wong, Janusz Feber, Pranesh Chakraborty, Alfred Drukker, Guido Filler

Erschienen in: Pediatric Nephrology | Ausgabe 2/2008

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Abstract

We report on a rare case of hypoxanthine guanine phosphoribosyl transferase (HGPRT) deficiency that presented in the newborn period with acute renal failure (ARF). The clinical diagnosis was made on the basis of non-oliguric ARF and evidence of crystal nephropathy on renal biopsy. HGPRT deficiency was eventually confirmed by enzymatic and genetic testing, showing a novel point mutation, 293 A>G. Immediate treatment consisted of peritoneal dialysis with, initially, lactate- then bicarbonate-buffered 1.36% glucose solution together with oral administration of allopurinol. Follow-up after more than 4 years continued to show hyper-echogenic kidneys with almost normal renal glomerular function. There continues to be no neurobehavioural abnormalities.

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Titel: Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure
verfasst von: Hubert Wong
Janusz Feber
Pranesh Chakraborty
Alfred Drukker
Guido Filler
Publikationsdatum: 01.02.2008
Verlag: Springer-Verlag
Erschienen in: Pediatric Nephrology / Ausgabe 2/2008
Print ISSN: 0931-041X
Elektronische ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-007-0612-1

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Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure

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