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| 1 | 儿童Fabry病的临床表现:来自Fabry病转归调查的数据显示文摘Background:Fabry disease is a rare X-linked disorder caused by deficient activity of the enzyme α-galactosidase A.This produces progressive lysosomal accumulation of globotriaosylceramide throughout the body,leading to organ failure and premature death.Aim:Here,we present the clinical manifestations of Fabry disease in children enrolled in FOS-the Fabry Outcome Survey-a European database of the natural history of Fabry disease and the effects of enzyme replacement therapy with agalsidase alfa(Replagal(tm)).Methods:Currently,there are 545 patients in FOS,from 11 European countries.We analysed the baseline demographic and clinical characteristics of 82 of these patients(40 boys,42 girls)who were below 18 y of age.The median age at evaluation(defined as the median age at entry into FOS)was 12.5 and 13.2 y for boys and girls,respectively.Results:The most frequent early clinical manifestations of Fabry disease were neurological(acroparaesthesiae,altered temperature sensitivity)and gastrointestinal symptoms(altered bowel habits and abdominal pain),which were documented in about 80%and 60%of patients,respectively,at the time of evaluation and subsequent entry into FOS.Tinnitus,vertigo,fatigue and angiokeratoma were present in over 40%of patients.Symptoms were noted in early childhood and occurred with similar frequency in boys and girls,although the onset of symptoms was 2-5 y later in girls than in boys.There was an approximately 3-y delay from onset of symptoms to diagnosis,and patients were frequently misdiagnosed.Conclusion:Although the life-threatening complications of Fabry disease,such as stroke and renal and heart failure,are not seen in children,the present analysis shows that other symptoms are common and may have an impact on quality of life. | Ramaswami U. Whybra C. Parini R. 郭战宏(译) | 2006 | 世界核心医学期刊文摘(儿科学分册)2006，2，8： | 1 |
| 2 | Enzyme-replacement therapy with agalsidase alfa inchildren with Fabry disease显示文摘 | Ries M Clarke JT Whybra C Timmons M Robinson C Schlaggal BL | 2006 | Pediatrics2006，118，3： | 1 |
| 3 | Anderson-Fabry dis- ease in children and adolescents显示文摘 | Beck M Whybra C Wendrich K | 2001 | Contributions to Nephrol- ogy2001，136，136： | 1 |
| 4 | IgA nephropathy in two adolescent sisters heterozygous for Fabry disease显示文摘 | Whybra C Schwartin A Kriegsmann J | | 0，，： | 1 |
| 5 | AndersonFabry disease in children and adolescents显示文摘 | Whybra C Wendrich K | 2001 | Contrib Nephrol2001，136，： | 1 |
| 6 | Clinical manifestation in female Fabry disease patients显示文摘 | Wendrich K Ries M | 2001 | Contrib Nephrol2001，136，： | 1 |
| 7 | Paraoxonase (PON1) gene polymorphisms in Fabry disease: correlation with renal disease显示文摘 | SHEMESH T WHYBRA C DELGADO-SANCHEZ S | 2010 | Nephron Clinical Practice2010，116，4： | 1 |
| 8 | Cardiac manifestations of Ander- n-Fabry disease in heterozygous females 显示文摘 | Kampmann C Baehner F Whybra C | 2002 | J Am Cnll Cardiol2002，40，： | 1 |
| 9 | Disease manifestations and X inactivation in heterozygous females with Fabry disease 显示文摘 | Maier EM Osterrieder S Whybra C | 2006 | Acta Paediatr Suppl2006，95，451： | 1 |
| 10 | IgA nephropathy in two adolescent sisters heterozygous for Fabry disease显示文摘 | Whybra C Schwarting A Kriegsmann J | 2006 | Pediatr Nephrol2006，21，9： | 1 |
| 11 | Clinical manifestation in female Fabry disease patients显示文摘 | Whybra C Wendrich K Ries M | 2001 | Contrib Nephrol2001，136，： | 1 |
| 12 | Enzyme-re- placement therapy with agalsidase alfa in children with Fabry disease 显示文摘 | RIESM CLARKE T R WHYBRA C | 2006 | Pediatrics2006，118，3： | 1 |
| 13 | Cumulative incidence rates of the mu- copolysaccharidoses in Germany显示文摘 | Baehner F Schmiedeskamp C Krummenauer F Miebach E Ba- jbouj M Whybra C | 2005 | J Inherit Metab Dis2005，28，6： | 1 |
| 14 | Clinical manifestations of Fabry disease in children : data from the Fabry Outcome Survey 显示文摘 | Ramaswami U Whybra C Parini R | 2006 | Acta Paediatr2006，95，1： | 1 |
| 15 | IgA nephropathy in two adolescent sisters heterozygous for Fabry disease显示文摘 | Whybra C Schwarting A Kriegsmann J | 2006 | Pediatr Nephrol2006，21，9： | 1 |
| 16 | Anderson-Fabry disease in children and adolescents显示文摘 | Beck M Whybra C Wendrich K | 2001 | Contrib Nephrol2001，136，： | 1 |
| 17 | Clinical manifestations of Fabry disease in children:data from the Fabry Outcome Survey显示文摘 | Ramaswami U Whybra C Parini R | 2006 | Acta Paediatr2006，95，1： | 1 |
| 18 | Anderson-Fabry disease in children and adolescents显示文摘 | Beck M Whybra C Wendrich K | 2001 | Contrib Nephrol2001，136，： | 1 |
| 19 | Clinical manifestation in female Fabry disease patients显示文摘 | Whybra C Wendrich K Ries M | 2001 | Contrib Nephrol2001，136，： | 1 |
| 20 | Clinical manifestations of Fabry disease in children:data from the Fabry Outcome Survey显示文摘 | Rsmaswami U Whybra C Parini R | | 0，，： | 1 |
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