title: Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
abstract: Lesch-Nyhan syndrome is an X-linked recessive inborn error of purine metabolism, due to deficiency of the enzyme HPRT (hypoxanthine-guanine phosphoribosyl transferase) and underlying HPRT gene mutations (over 300 mutations identified up to date). It is characterized by a wide range of neurological symptoms and signs (mainly a combination of spastic diplegia with choreoathetosis and an overall psychomotor redardation). Herein, we report of two cousins with Lesch-Nyhan syndrome and a confirmed novel HPRT gene mutation: c.65T>C, who both developed nephrocalcinosis and renal failure, findings not been previously published in children with HPRT deficiency.
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Euthymia
authors.initials: E
authors.lastname: Vargiami
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Nikoleta
authors.initials: N
authors.lastname: Printza
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Eleni
authors.initials: E
authors.lastname: Papadimiditriou
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Spyros
authors.initials: S
authors.lastname: Batzios
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Maria
authors.initials: M
authors.lastname: Kyriazi
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece.
authors.forename: Fotios
authors.initials: F
authors.lastname: Papachristou
authors.affiliation: 1st Department of Pediatrics, Medical School, Aristotle University of Thessaloniki, Thessaloniki, Greece. Electronic address: jeff@med.auth.gr.
authors.forename: Dimitrios I
authors.initials: DI
authors.lastname: Zafeiriou
mesh_terms: D002675:Child, Preschool; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics; D007926:Lesch-Nyhan Syndrome / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D009397:Nephrocalcinosis / Q000209:etiology*; D051437:Renal Insufficiency / Q000209:etiology*
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase