The article presents a clinical case of Lesch-Nyhan syndrome, or hereditary forms of gout, recessive, coupled with X-linked disease associated with a complete absence of the enzyme hypoxanthine-guanine-phosphoribosyltransferase. The diagnosis of the syndrome Lesch — Nyhan put on the basis of the three main clinical symptoms: increased production of uric acid, neurological dysfunction, cognitive and behavioral narusheniy.Slozhnosti diagnosis of the disease in the patient presented due to rarity of this disease, poorly pronounced CNS, the absence of DNA — research and enzimodiagnostiki.
Lesch-Nyhan syndrome, hypoxanthine-guanine phosphoribosyl (GFRT), HPRT1 gene, hyperuricemia, gout, allopurinol
1. Lesch M., Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system function.. Am. J.Med. — 1964. — V. 36. — R. 561.
2. Anderson L., Ernst M., Davis S. Cognitive abilities of patients with Lesch–Nyhanditease. J. Autism. Dev. Disord. 1992; 22: 189–203.
3. Usov I.N., Astakhova L.N., Usova Yu.I. Giperurikemicheskiy sindrom Lesha-Nikhana. Zdravookhranenie Belorusii. — 1975. — №2. — S. 74—75.
4. Rudenskaya G.E., Zakharova E.Yu., Bessonova L.A., Zakharova O.M., Bobylova M.Yu., Fedorov E.S. Sindrom Lesha–Naykhana: fenotipicheskoe raznoobrazie i DNK-diagnostika. Meditsinskaya genetika. 2010; 9: S. 45–46
5. Schroeder S., Oster-Granite M., Berkson G. etal. Self-injurious behavior: gene-brain-behavior relationships. Ment. Retard.Dev. Disabil. Res. Rev. — 2001. — Vol. 7. — P. 3—12.
6. Torres R., Puig J. Hypoxanthine guaninephosphoribosyltransferase (HPRT) deficiency: Lesch—Nyhan syndrome. Orph. J.Rare Dis. — 2007. — Vol. 2:48
7. O’Neill J. Mutation carrer testing in Lesch—Nyhan syndrome fa mi li es: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. Ge net. Test. — 2004. — Vol. 8. —P. 64.
8. Neychev V., Jinnah H. Sudden death in Lesch—Nyhan disease. Dev. Med. Child. Neurol. — 2006. — Vol. 48. — P. 923—926.
9. Ea H., Bardin T., Jinnah H. etal. Severegouty arthritis andmild neurologic symptoms due to F199C, a newly identified variantof the hypoxanthine guan ne phosphoribosyl transferase. ArthritisRheum. — 2009. — Vol. 60. — P.2201—2204
