mrjСовременная ревматологияModern Rheumatology Journal1996-70122310-158XIMA-PRESS, LLC10.14412/1996-7012-2010-620mrj-305Research ArticleСтатьиArticlesБолезнь Лёша-Нихена: клинические проявления и варианты течения, анализ собственного опытаBolezn' Lesha-Nikhena: klinicheskie proyavleniya i varianty techeniya, analiz sobstvennogo opytaEliseevM SEliseevM S-БарсковаВ. Г.BarskovaViktoria Georgiyevnabarskova@irramn.ru <mailto:barskova@irramn.ru>20101109201043№3 (2010)4752Copyright © Eliseev M.S., Барскова В.Г., 20102010Eliseev M.S., Барскова В.Г.Eliseev M.S., Barskova V.G.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://mrj.ima-press.net/mrj/article/view/305References<div><p>Lesch M., Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964; 36: 561-70.</p><p>Seegmiller J.E., Rosenbloom F.M., Kelley W.N. Enzyme defect associated with a sex- linked human neurological disorder and excessive purine synthesis. Science 1967; 155: 1682-4.</p><p>Beck C.T. Jacobus de Voragine (1230- 1298): first to describe a Lesch-Nyhan syndrome? Eur J Pediatr Surg 1992; 2(6): 355-6.</p><p>Crawhall J.C., Henderson J.F., Kelley W.N. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res 1972, 6: 504-13.</p><p>Torres R.J., Puig J.G. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2007; 2: 48.</p><p>Nyhan W.L. Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research. Pediatr Res 1972; 6(1): 1 -9.</p><p>Friedman T., Roblin R. Gene therapy for human genetic disease? Science 1972; 175: 949-55.</p><p>Jinan H.A., Friedman T. Gene therapy and the brain. Br Med Bull 1995; 51: 138-48.</p><p>Lowenstein P.R., Southgate T.D., Smith- Arica J.R. et al. Gene therapy for inherited neurological disorders: towards therapeutic intervention in the Lesch-Nyhan syndrome. Prog Brain Res 1998; 117: 485-501.</p><p>De Mars R., Sarto G., Felix J.S. et al. Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells. Science 1969; 164: 1303-5.</p><p>Bernan P.H., Balis M.E., Dancis J. A method for the prenatal diagnosis of the Lesch-Nyhan syndrome using fresh amniotic cells. Trans Am Neurol Assoc 1969; 94: 222-4.</p><p>Szybalski W. Use of the HPRT gene and the HAT selection technique in DNA-mediated transformation of mammalian cells: first steps toward developing hybridoma techniques and gene therapy. Bioessays 1992; 14(7): 495-500.</p><p>Melton D.W. HPRT gene organization and expression. Oxf Surv Euk Genes 1987; 4: 35-76.</p><p>Stout J.T., Caskey C.T. HPRT: Gene structure, expression, and mutation. Ann Rev Genet 1985; 19: 127-48.</p><p>Davidson B.L., Brown J.E., Weber C.H. et al. Synthesis of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli. Gene 1993; 123(2): 271-5.</p><p>Cariello N.F., Skopek T.R. In vivo mutation at the human HPRT locus. Trends Genet 1993; 9(9): 322-6.</p><p>Nyhan W.L.The recognition of Lesch- Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis 1997; 20(2): 171-8.</p><p>Jinnah H.A., De Gregorio L., Harris J.C. et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000; 463(3): 309-26.</p><p>Duan J., Nilsson L., Lambert B. Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Hum Mutat 2004 Jun; 23(6): 599-611.</p><p>Yamada Y., Nomura N., Yamada K. et al. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. Mol Genet Metab 2007; 90(1): 70-6.</p><p>Jinnah H.A., Ceballos-Picot I., Torres R.J. Attenuated variants of Lesch-Nyhan disease. Brain 2010; 133: 671-89.</p><p>Puig J.G., Torres R.J., Mateos F.A. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001; 80(2): 102-12.</p><p>Jinnah H.A., Friedman T. Lesch-Nyhan disease and its variants. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001; 2537-70.</p><p>Christie R., Bay C., Kaufman I.A. et al. Lesch-Nyhan disease: Clinical experience with nineteen patients. Devel Med Child Neurol 1982; 24: 293-306.</p><p>Muzino T. Long-term follow-up of ten patients with Lesch-Nyhan syndrome. Neuropediatrics 1986; 17: 158-61.</p><p>Garcia M.G., Puig J.G., Torres R.J. Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients. Brain Behav Immun 2009; 23(8): 1125-31.</p><p>Breese G.R., Criswell H.E., Duncan G.E. et al. A dopamine deficiency model of Lesch- Nyhan disease - the neonatal-6-OHDA- lesioned rat. Brain Res Bull 1990; 25: 477-84.</p><p>Christie R., Bay C., Kaufman I.A. et al. Lesch-Nyhan disease: Clinical experience with nineteen patients. Devel Med Child Neurol 1982; 24: 293-306.</p><p>Ceccarelli M., Ciompi M.L., Pasero G. Acute renal failure during adenine therapy in Lesch-Nyhan syndrome. Adv Exp Med Biol 1974; 41: 671-5.</p><p>Ludman C.N., Dicks-Mireaux C., Saunders A.J. Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. Br J Radiol 1992; 65: 724-5.</p><p>Jenkins E.A., Hallett R.J., Hull R.G. Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism. Br J Rheumatol 1994; 33: 392-6.</p><p>Torres R.J., Prior C., Puig J.G. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism 2007; 56: 1179-86.</p><p>Brock W.A., Golden J., Kaplan G.W. Xanthine calculi in the Lesch-Nyhan syndrome. J Urol 1983; 130: 157-9.</p><p>Kranen S., Keough D., Gordon R.B. et al. Xanthine-containing calculi during allopurinol therapy. J Urol 1985; 133: 658-9.</p><p>Morino M., Shiigai N., Kusuyama H. et al. Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. Pediatr Radiol 1992; 22: 304.</p><p>Watts R.W.E., Spellacy E., Gibbs D.A. et al. Clinical, post-mortem, biochemical and therapeutic observation on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. QJM 1982; 24: 43-78.</p></div><br /><div><p>Lesch M., Nyhan W.L. A familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964; 36: 561-70.</p><p>Seegmiller J.E., Rosenbloom F.M., Kelley W.N. Enzyme defect associated with a sex- linked human neurological disorder and excessive purine synthesis. Science 1967; 155: 1682-4.</p><p>Beck C.T. Jacobus de Voragine (1230- 1298): first to describe a Lesch-Nyhan syndrome? Eur J Pediatr Surg 1992; 2(6): 355-6.</p><p>Crawhall J.C., Henderson J.F., Kelley W.N. Diagnosis and treatment of the Lesch-Nyhan syndrome. Pediatr Res 1972, 6: 504-13.</p><p>Torres R.J., Puig J.G. Hypoxanthine-guanine phosophoribosyltransferase (HPRT) deficiency: Lesch-Nyhan syndrome. Orphanet J Rare Dis 2007; 2: 48.</p><p>Nyhan W.L. Behavioral phenotypes in organic genetic disease. Presidential address to the Society for Pediatric Research. Pediatr Res 1972; 6(1): 1 -9.</p><p>Friedman T., Roblin R. Gene therapy for human genetic disease? Science 1972; 175: 949-55.</p><p>Jinan H.A., Friedman T. Gene therapy and the brain. Br Med Bull 1995; 51: 138-48.</p><p>Lowenstein P.R., Southgate T.D., Smith- Arica J.R. et al. Gene therapy for inherited neurological disorders: towards therapeutic intervention in the Lesch-Nyhan syndrome. Prog Brain Res 1998; 117: 485-501.</p><p>De Mars R., Sarto G., Felix J.S. et al. Lesch-Nyhan mutation: prenatal detection with amniotic fluid cells. Science 1969; 164: 1303-5.</p><p>Bernan P.H., Balis M.E., Dancis J. A method for the prenatal diagnosis of the Lesch-Nyhan syndrome using fresh amniotic cells. Trans Am Neurol Assoc 1969; 94: 222-4.</p><p>Szybalski W. Use of the HPRT gene and the HAT selection technique in DNA-mediated transformation of mammalian cells: first steps toward developing hybridoma techniques and gene therapy. Bioessays 1992; 14(7): 495-500.</p><p>Melton D.W. HPRT gene organization and expression. Oxf Surv Euk Genes 1987; 4: 35-76.</p><p>Stout J.T., Caskey C.T. HPRT: Gene structure, expression, and mutation. Ann Rev Genet 1985; 19: 127-48.</p><p>Davidson B.L., Brown J.E., Weber C.H. et al. Synthesis of normal and variant human hypoxanthine-guanine phosphoribosyltransferase in Escherichia coli. Gene 1993; 123(2): 271-5.</p><p>Cariello N.F., Skopek T.R. In vivo mutation at the human HPRT locus. Trends Genet 1993; 9(9): 322-6.</p><p>Nyhan W.L.The recognition of Lesch- Nyhan syndrome as an inborn error of purine metabolism. J Inherit Metab Dis 1997; 20(2): 171-8.</p><p>Jinnah H.A., De Gregorio L., Harris J.C. et al. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res 2000; 463(3): 309-26.</p><p>Duan J., Nilsson L., Lambert B. Structural and functional analysis of mutations at the human hypoxanthine phosphoribosyl transferase (HPRT1) locus. Hum Mutat 2004 Jun; 23(6): 599-611.</p><p>Yamada Y., Nomura N., Yamada K. et al. Molecular analysis of HPRT deficiencies: an update of the spectrum of Asian mutations with novel mutations. Mol Genet Metab 2007; 90(1): 70-6.</p><p>Jinnah H.A., Ceballos-Picot I., Torres R.J. Attenuated variants of Lesch-Nyhan disease. Brain 2010; 133: 671-89.</p><p>Puig J.G., Torres R.J., Mateos F.A. The spectrum of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency. Clinical experience based on 22 patients from 18 Spanish families. Medicine (Baltimore) 2001; 80(2): 102-12.</p><p>Jinnah H.A., Friedman T. Lesch-Nyhan disease and its variants. In: Scriver C.R., Beaudet A.L., Sly W.S., Valle D., eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001; 2537-70.</p><p>Christie R., Bay C., Kaufman I.A. et al. Lesch-Nyhan disease: Clinical experience with nineteen patients. Devel Med Child Neurol 1982; 24: 293-306.</p><p>Muzino T. Long-term follow-up of ten patients with Lesch-Nyhan syndrome. Neuropediatrics 1986; 17: 158-61.</p><p>Garcia M.G., Puig J.G., Torres R.J. Abnormal adenosine and dopamine receptor expression in lymphocytes of Lesch-Nyhan patients. Brain Behav Immun 2009; 23(8): 1125-31.</p><p>Breese G.R., Criswell H.E., Duncan G.E. et al. A dopamine deficiency model of Lesch- Nyhan disease - the neonatal-6-OHDA- lesioned rat. Brain Res Bull 1990; 25: 477-84.</p><p>Christie R., Bay C., Kaufman I.A. et al. Lesch-Nyhan disease: Clinical experience with nineteen patients. Devel Med Child Neurol 1982; 24: 293-306.</p><p>Ceccarelli M., Ciompi M.L., Pasero G. Acute renal failure during adenine therapy in Lesch-Nyhan syndrome. Adv Exp Med Biol 1974; 41: 671-5.</p><p>Ludman C.N., Dicks-Mireaux C., Saunders A.J. Renal ultrasonographic appearances at presentation in an infant with Lesch-Nyhan syndrome. Br J Radiol 1992; 65: 724-5.</p><p>Jenkins E.A., Hallett R.J., Hull R.G. Lesch-Nyhan syndrome presenting with renal insufficiency in infancy and transient neonatal hypothyroidism. Br J Rheumatol 1994; 33: 392-6.</p><p>Torres R.J., Prior C., Puig J.G. Efficacy and safety of allopurinol in patients with hypoxanthine-guanine phosphoribosyltransferase deficiency. Metabolism 2007; 56: 1179-86.</p><p>Brock W.A., Golden J., Kaplan G.W. Xanthine calculi in the Lesch-Nyhan syndrome. J Urol 1983; 130: 157-9.</p><p>Kranen S., Keough D., Gordon R.B. et al. Xanthine-containing calculi during allopurinol therapy. J Urol 1985; 133: 658-9.</p><p>Morino M., Shiigai N., Kusuyama H. et al. Extracorporeal shock wave lithotripsy and xanthine calculi in Lesch-Nyhan syndrome. Pediatr Radiol 1992; 22: 304.</p><p>Watts R.W.E., Spellacy E., Gibbs D.A. et al. Clinical, post-mortem, biochemical and therapeutic observation on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. QJM 1982; 24: 43-78.</p></div><br />
The authors declare that there are no conflicts of interest present.