Lesch-Nyhan Disease: Clinical Experience with Nineteen Patients
作者： Richard Christie , Carolyn Bay , Irvin A. Kaufman , Bohdan Bakay , Margaret Borden
DOI: 10.1111/J.1469-8749.1982.TB13621.X
关键词:
摘要: UMMARY The clinical phenotype in Lesch-Nyhan disease has been analyzed 19 patients studied hospital. In each case the diagnosis was made on basis of inactivity enzyme hypoxanthine guanine phosphoribosyltransferase erythrocyte lysates. All had RESUME La maladie de Lesch-Nyhan: revue d'une experience clinique chez sujets ZUSAMMENFASSUNG Lesch-Nyhan Syndrom: eine Zusammenfassung der klinischen Erfahrungen mit Patienten An Patienten, die im Krankenhaus behandelt wurden, wurde klinische Phanotyp des Syndroms analysiert. Die Diagnose jedem Fall durch den Inaktivitatsnachweis Enzyms Hypoxanthinguaninphosphoribosyltransferase Erythrocytenlysat gestellt. Alle Patienten hatten Hyperuricaemie und bei meisten Fallen als erster Hinweis ‘orangefarbene Sand’ Windel angegeben. ein selbstzerstorerisches Verhalten, das charakteristischste war Kauen an Fingernageln Lippen. Neurologisch allen Spastik unwillkurliche choreoathetoide Bewegungen gefunden. einer Ausnahme einen erniedrigten Intelligenzquotienten. RESUMEN Enfermedad revision y experiencia clinica con pacientes Se analizo el fenotipo clinico en la enfermedad pacientes hospitalizados. En cada caso diagnostico se hizo basandose inactividad del enzima hipoxantina guanina fosforibosiltransferasa eritrocitos lisados. Todos tenian hiperuricemia presencia ‘arena naranja’ panal fue una observacion prominente precoz. un comportamiento automutilante, siendo forma mas caracteristica morderse los dedos o labios. sindrome neurologico espasticidad movimientos involuntarios coreoatetosicos. Todos, excepto caso, inteligencia por debajo normal.
sci-hub.se 参考文章(38)
Manzke H, Harms D, Dörner K, Treatment of congenital hyperuricemia Monatsschrift Kinderheilkunde. ,vol. 119, pp. 424- ,(1971)
Bohdan Bakay, Mary A. Telfer, William L. Nyhan, Assay of hypoxanthine-guanine and adenine phosphoribosyl transferases: A simple screening test for the Lesch-Nyhan syndrome and related disorders of purine metabolism☆ Biochemical Medicine. ,vol. 3, pp. 230- 243 ,(1969) , 10.1016/0006-2944(69)90022-2
Maurice D. Kogut, George N. Donnell, William L. Nyhan, Lawrence Sweetman, Disorder of purine metabolism due to partial deficiency of hypoxanthine-guanine phosphoribosyltransferase The American Journal of Medicine. ,vol. 48, pp. 148- 161 ,(1970) , 10.1016/0002-9343(70)90111-7
Joel M. Kaufman, Martin L. Greene, J. Edwin Seegmiller, Urine uric acid to creatinine ratio—a screening test for inberited disorders of purine metabolism The Journal of Pediatrics. ,vol. 73, pp. 583- 592 ,(1968) , 10.1016/S0022-3476(68)80274-4
Nyhan Wl, Sakati N, Fish Ch, Bryson Y, Self-mutilative behavior in the Cornelia de Lange syndrome. American journal of mental deficiency. ,vol. 76, pp. 319- 324 ,(1971)
James F. Marks, John Baum, Alice MacFarlen, Jacob L. Kay, Doman K. Keele, Lesch-Nyhan syndrome treated from the early neonatal period. Pediatrics. ,vol. 42, pp. 357- 359 ,(1968)
Jerome B. Ilson, Alfred L. Scherzer, Normal intelligence in the Lesch-Nyhan syndrome. Pediatrics. ,vol. 44, pp. 116- 120 ,(1969)
W L Nyhan, J Pesek, L Sweetman, D G Carpenter, C H Carter, Genetics of an X-Linked Disorder of Uric Acid Metabolism and Cerebral Function Pediatric Research. ,vol. 1, pp. 5- 13 ,(1967) , 10.1203/00006450-196701000-00001
W. L. Nyhan, B. Bakay, J. D. Connor, J. F. Marks, D. K. Keele, Hemizygous Expression of Glucose-6-Phosphate Dehydrogenase in Erythrocytes of Heterozygotes for the Lesch-Nyhan Syndrome Proceedings of the National Academy of Sciences of the United States of America. ,vol. 65, pp. 214- 218 ,(1970) , 10.1073/PNAS.65.1.214
Georges E. Rivard, Parvin Izadi, Jack Lazerson, John D. McLaren, Charles Parker, Charles H. Fish, Functional and metabolic studies of platelets from patients with Lesch-Nyhan syndrome. British Journal of Haematology. ,vol. 31, pp. 245- 253 ,(1975) , 10.1111/J.1365-2141.1975.TB00854.X