title: Novel HGPRT 293 A>G point mutation presenting as neonatal acute renal failure.
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.
authors.affiliation: Department of Paediatrics, Children's Hospital of Eastern Ontario (CHEO), University of Ottawa, 401 Smyth Road, Ottawa, ON, K1H 8L1, Canada. hwong@cheo.on.ca
authors.forename: Hubert
authors.initials: H
authors.lastname: Wong
authors.forename: Janusz
authors.initials: J
authors.lastname: Feber
authors.forename: Pranesh
authors.initials: P
authors.lastname: Chakraborty
authors.forename: Alfred
authors.initials: A
authors.lastname: Drukker
authors.forename: Guido
authors.initials: G
authors.lastname: Filler
mesh_terms: D058186:Acute Kidney Injury / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000628:therapy; D000493:Allopurinol / Q000627:therapeutic use; D003131:Combined Modality Therapy; D005500:Follow-Up Studies; D006074:Gout Suppressants / Q000627:therapeutic use; D015312:Hemodialysis Solutions; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000172:deficiency / Q000235:genetics* / Q000378:metabolism; D007231:Infant, Newborn; D007668:Kidney / Q000000981:diagnostic imaging; D007926:Lesch-Nyhan Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D008297:Male; D010530:Peritoneal Dialysis; D017354:Point Mutation; D016896:Treatment Outcome; D014463:Ultrasonography
chemical_list: D006074:Gout Suppressants; D015312:Hemodialysis Solutions; D000493:Allopurinol; D007041:Hypoxanthine Phosphoribosyltransferase