Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature.
| Τίτλος | Nephrocalcinosis and Renal Failure in Lesch-Nyhan Syndrome: Report of Two Familial Cases and Review of the Literature. |
| Publication Type | Journal Article |
| Year of Publication | 2016 |
| Authors | Vargiami, E., Printza N., Papadimiditriou E., Batzios S., Kyriazi M., Papachristou F., & Zafeiriou D. I. |
| Journal | Urology |
| Volume | 97 |
| Pagination | 194-196 |
| Date Published | 2016 11 |
| ISSN | 1527-9995 |
| Λέξεις κλειδιά | Child, 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. |
| DOI | 10.1016/j.urology.2016.04.004 |
| Alternate Journal | Urology |
| PubMed ID | 27079129 |
