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Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.

TitleNephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
Publication TypeJournal Article
Year of Publication2016
AuthorsVargiami, E., Printza N., Papadimiditriou E., Batzios S., Kyriazi M., Papachristou F., & Zafeiriou D. I.
JournalUrology
Volume97
Pagination194-196
Date Published2016 11
ISSN1527-9995
KeywordsChild, Preschool, Humans, Hypoxanthine Phosphoribosyltransferase, Lesch-Nyhan Syndrome, Male, Nephrocalcinosis, Renal Insufficiency
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.

DOI10.1016/j.urology.2016.04.004
Alternate JournalUrology
PubMed ID27079129

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