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Enzyme Replacement Therapy in Children with Fabry Disease

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Abstract

Anderson-Fabry Disease (FD) is an X-linked glycosphingolipid storage disorder caused by a deficiency of α-galactosidase A. This deficiency results in a slowly progressive disease due to the accumulation of globotriaosylceramide (Gb3) in cells of various tissues and occurs in both males and females. The early non specific gastrointestinal symptoms and unexplained pain of this progressive condition often results in a delay in diagnosis by up to a decade. The safety and efficacy of treatment with Enzyme Replacement Therapy (ERT) with both agalsidase alfa and agalsidase beta has been well documented in adults. More recent studies have also shown the response to ERT in adults to be less effective when started in the later stages of disease progression. The optimal timing and dosing of ERT to delay or stop cardiac and renal complications of FD is currently unknown. The early clinical presentation of FD is heterogeneous with life threatening complications seen in adults being uncommon in children. The published literature of studies in children is currently limited but demonstrates safety and encouraging early efficacy data. Long term follow up data on the safety and efficacy of ERT in children is essential and this emphasizes the importance of accurate and meticulous data collection, both as individual treating clinicians and also for collating data on such rare diseases using the disease-specific global registries.

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Abbreviations

α-Gal A:

α-galactosidase A

BPI:

Brief pain inventory

CTH:

Ceramidetrihexoside

eGFR:

Estimated glomerular filtration rate

ERT:

Enzyme replacement therapy

FD:

Fabry disease

Gb3:

Globotriaosylceramide

GI:

Gastrointestinal

IAR:

Infusion associated reaction

IgE:

Immunoglobulin E

IgG:

Immunoglobulin G

LVM/h:

Left ventricular mass indexed for height

Lyso Gb3:

Globotriaocylsphingosine

MSSI:

Mainz Severity Score Index

pNN50:

Square root of the mean of the sum of squares of differences between adjacent filtered RR intervals that are >50 ms for the whole analysis

QoL:

Quality of life

QSART:

Quantitative sudomotor axon reflex test

QST:

Quantitative sensory testing

RR:

Inter-beat

SDNN:

Standard deviation of the normal beat to normal beat intervals over the length of the analysis

SDNN-i:

Mean of the standard deviation of all of the filtered RR intervals for all of the 5 min segments of the analysis

SDANN-i:

Standard deviation of the mean of all filtered RR intervals for all of the 5 min segments of the analysis

References

  1. Brady RO (1967 Jul) Enzymatic abnormalities in diseases of sphingolipid metabolism. Clin Chem 13(7):565–577

    PubMed  CAS  Google Scholar 

  2. Desnick RJ, Banikazemi M, Wasserstein M (2002 Jan) Enzyme replacement therapy for Fabry disease, an inherited nephropathy. Clin Nephrol 57(1):1–8

    PubMed  CAS  Google Scholar 

  3. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M et al (2003 Feb 18) Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 138(4):338–346

    PubMed  Google Scholar 

  4. Desnick RJ, Schuchman EH (2002 Dec) Enzyme replacement and enhancement therapies: lessons from lysosomal disorders. Nat Rev Genet 3(12):954–966

    Article  PubMed  CAS  Google Scholar 

  5. MacDermot KD, Holmes A, Miners AH (2001 Nov) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 38(11):769–775

    Article  PubMed  CAS  Google Scholar 

  6. MacDermot KD, Holmes A, Miners AH (2001 Nov) Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 38(11):750–760

    Article  PubMed  CAS  Google Scholar 

  7. Vedder AC, Strijland A, vd Bergh Weerman MA, Florquin S, Aerts JM, Hollak CE (2006) Manifestations of Fabry disease in placental tissue. J Inherit Metab Dis 29(1):106–111

    Article  PubMed  CAS  Google Scholar 

  8. Tsutsumi O, Sato M, Sato K, Sato K, Mizuno M, Sakamoto S (1985 Mar) Early prenatal diagnosis of inborn error of metabolism: a case report of a fetus affected with Fabry’s disease. Asia Oceania J Obstet Gynaecol 11(1):39–45

    Article  PubMed  CAS  Google Scholar 

  9. Tsutsumi A, Uchida Y, Kanai T, Tsutsumi O, Satoh K, Sakamoto S (1984 Dec) Corneal findings in a foetus with Fabry’s disease. Acta Ophthalmol (Copenh) 62(6):923–931

    Article  CAS  Google Scholar 

  10. Ries M, Ramaswami U, Parini R, Lindblad B, Whybra C, Willers I et al (2003 Nov) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents. Eur J Pediatr 162(11):767–772

    Article  PubMed  Google Scholar 

  11. Lidove O, Ramaswami U, Jaussaud R, Barbey F, Maisonobe T, Caillaud C et al (2006 Sep) Hyperhidrosis: a new and often early symptom in Fabry disease. International experience and data from the Fabry Outcome Survey. Int J Clin Pract 60(9):1053–1059

    Article  PubMed  CAS  Google Scholar 

  12. Ramaswami U (2008 Apr) Fabry disease during childhood: clinical manifestations and treatment with agalsidase alfa. Acta Paediatr Suppl 97(457):38–40

    Article  PubMed  Google Scholar 

  13. Zarate YA, Hopkin RJ (2008) Fabry’s disease. Lancet 372(9647):1427–1435

    Article  PubMed  CAS  Google Scholar 

  14. Tondel C, Bostad L, Hirth A, Svarstad E (2008) Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 51(5):767–776

    Article  PubMed  Google Scholar 

  15. Tondel C, Bostad L, Laegreid LM, Houge G, Svarstad E (2008) Prominence of glomerular and vascular changes in renal biopsies in children and adolescents with Fabry disease and microalbuminuria. Clin Ther 30(Suppl B):S42

    Article  PubMed  Google Scholar 

  16. Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M (2008 Apr) Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 97(4):463–469

    Article  PubMed  Google Scholar 

  17. Cabrera-Salazar MA, O’Rourke E, Charria-Ortiz G, Barranger JA (2005 Jul) Radiological evidence of early cerebral microvascular disease in young children with Fabry disease. J Pediatr 147(1):102–105

    Article  PubMed  Google Scholar 

  18. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L et al (2001 Mar) A phase 1/2 clinical trial of enzyme replacement in fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 68(3):711–722

    Article  PubMed  CAS  Google Scholar 

  19. Schiffmann R, Kopp JB, Austin HA III, Sabnis S, Moore DF, Weibel T et al (2001 Jun 6) Enzyme replacement therapy in Fabry disease: a randomized controlled trial. J Am Med Assoc 285(21):2743–2749

    Article  CAS  Google Scholar 

  20. Schiffmann R, Floeter MK, Dambrosia JM, Gupta S, Moore DF, Sharabi Y et al (2003 Dec) Enzyme replacement therapy improves peripheral nerve and sweat function in Fabry disease. Muscle Nerve 28(6):703–710

    Article  PubMed  CAS  Google Scholar 

  21. Hoffmann B, Garcia de Lorenzo A, Mehta A, Beck M, Widmer U, Ricci R (2005 Mar) Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey). J Med Genet 42(3):247–252

    Article  PubMed  CAS  Google Scholar 

  22. Mehta A (2002 Jun) Agalsidase alfa: specific treatment for Fabry disease. Hosp Med 63(6):347–350

    PubMed  Google Scholar 

  23. Whybra C, Miebach E, Mengel E, Gal A, Baron K, Beck M et al (2009 Jun) A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease. Genet Med 11(6):441–449

    Article  PubMed  CAS  Google Scholar 

  24. Banikazemi M, Ullman T, Desnick RJ (2005 Aug) Gastrointestinal manifestations of Fabry disease: clinical response to enzyme replacement therapy. Mol Genet Metab 85(4):255–259

    Article  PubMed  CAS  Google Scholar 

  25. Banikazemi M, Desnick RJ (2006 Feb) Does enzyme replacement therapy improve symptoms of Fabry disease in patients undergoing dialysis? Nat Clin Pract Nephrol 2(2):72–73

    Article  PubMed  Google Scholar 

  26. Banikazemi M, Bultas J, Waldek S, Wilcox WR, Whitley CB, McDonald M et al (2007 Jan 16) Agalsidase-beta therapy for advanced Fabry disease: a randomized trial. Ann Intern Med 146(2):77–86

    PubMed  Google Scholar 

  27. Schiffmann R, Askari H, Timmons M, Robinson C, Benko W, Brady RO et al (2007 May) Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing. J Am Soc Nephrol 18(5):1576–1583

    Article  PubMed  CAS  Google Scholar 

  28. Ries M, Clarke JT, Whybra C, Timmons M, Robinson C, Schlaggar BL et al (2006 Sep) Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease. Pediatrics 118(3):924–932

    Article  PubMed  Google Scholar 

  29. Ries M, Clarke JT, Whybra C, Mehta A, Loveday KS, Brady RO et al (2007 Oct) Enzyme replacement in Fabry disease: pharmacokinetics and pharmacodynamics of agalsidase alpha in children and adolescents. J Clin Pharmacol 47(10):1222–1230

    Article  PubMed  CAS  Google Scholar 

  30. Ramaswami U, Wendt S, Pintos-Morell G, Parini R, Whybra C, Leon Leal JA et al (2007 Jan) Enzyme replacement therapy with agalsidase alfa in children with Fabry disease. Acta Paediatr 96(1):122–127

    Article  PubMed  CAS  Google Scholar 

  31. Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A et al (2008) Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease. J Pediatr 152(4). 563–570, 570.e1

    Google Scholar 

  32. Meikle PJ, Hopwood JJ, Clague AE, Carey WF (1999 Jan 20) Prevalence of lysosomal storage disorders. J Am Med Assoc 281(3):249–254

    Article  CAS  Google Scholar 

  33. Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H et al (2006 Jul) High incidence of later-onset fabry disease revealed by newborn screening. Am J Hum Genet 79(1):31–40

    Article  PubMed  CAS  Google Scholar 

  34. Desnick RJ (2001 Apr) Enzyme replacement and beyond. J Inherit Metab Dis 24(2):251–265

    Article  PubMed  CAS  Google Scholar 

  35. Sessa A, Toson A, Nebuloni M, Pallotti F, Giordano F, Battini G et al (2002) Renal ultrastructural findings in Anderson-Fabry disease. J Nephrol 15(2):109–112

    PubMed  Google Scholar 

  36. Sessa A, Meroni M, Battini G, Righetti M, Nebuloni M, Tosoni A et al (2003) Evolution of renal pathology in Fabry disease. Acta Paediatr Suppl 92(443):6–8, discussion 5

    PubMed  CAS  Google Scholar 

  37. Brady RO (2003 Dec) Gaucher and Fabry diseases: from understanding pathophysiology to rational therapies. Acta Paediatr Suppl 92(443):19–24

    PubMed  CAS  Google Scholar 

  38. Gadoth N, Sandbank U (1983 Aug) Involvement of dorsal root ganglia in Fabry’s disease. J Med Genet 20(4):309–312

    Article  PubMed  CAS  Google Scholar 

  39. Branton M, Schiffmann R, Kopp JB (2002 Jun) Natural history and treatment of renal involvement in Fabry disease. J Am Soc Nephrol 13(Suppl 2):S139–S143

    PubMed  Google Scholar 

  40. Branton MH, Schiffmann R, Sabnis SG, Murray GJ, Quirk JM, Altarescu G et al (2002 Mar) Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course. Medicine (Baltimore) 81(2):122–138

    Article  CAS  Google Scholar 

  41. Kampmann C, Baehner F, Whybra C, Martin C, Wiethoff CM, Ries M et al (2002 Nov 6) Cardiac manifestations of Anderson-Fabry disease in heterozygous females. J Am Coll Cardiol 40(9):1668–1674

    Article  PubMed  Google Scholar 

  42. Linhart A, Kampmann C, Zamorano JL, Sunder-Plassmann G, Beck M, Mehta A et al (2007 May) Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 28(10):1228–1235

    Article  PubMed  Google Scholar 

  43. Rolfs A, Bottcher T, Zschiesche M, Morris P, Winchester B, Bauer P et al (2005 Nov 19) Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study. Lancet 366(9499):1794–1796

    Article  PubMed  Google Scholar 

  44. Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G et al (2006 Jan) Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 95(1):86–92

    Article  PubMed  Google Scholar 

  45. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S et al (2001 Jul 5) Safety and efficacy of recombinant human alpha-galactosidase A–replacement therapy in Fabry’s disease. N Engl J Med 345(1):9–16

    Article  PubMed  CAS  Google Scholar 

  46. Schiffmann R (2007 Jan 16) Enzyme replacement in Fabry disease: the essence is in the kidney. Ann Intern Med 146(2):142–144

    PubMed  Google Scholar 

  47. Beck M, Ricci R, Widmer U, Dehout F, de Lorenzo AG, Kampmann C et al (2004 Dec) Fabry disease: overall effects of agalsidase alfa treatment. Eur J Clin Invest 34(12):838–844

    Article  PubMed  CAS  Google Scholar 

  48. Hoffmann B, Beck M, Sunder-Plassmann G, Borsini W, Ricci R, Mehta A (2007) Nature and prevalence of pain in Fabry disease and its response to enzyme replacement therapy–a retrospective analysis from the Fabry Outcome Survey. Clin J Pain 23(6):535–542

    Article  PubMed  Google Scholar 

  49. Hughes DA, Elliott PM, Shah J, Zuckerman J, Coghlan G, Brookes J et al (2008 Feb) Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa. Heart 94(2):153–158

    Article  PubMed  CAS  Google Scholar 

  50. Hoffmann B, Schwarz M, Mehta A, Keshav S (2007 Dec) Gastrointestinal symptoms in 342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 5(12):1447–1453

    Article  PubMed  Google Scholar 

  51. Feriozzi S, Schwarting A, Sunder-Plassmann G, West M, Cybulla M (2009) Agalsidase alfa slows the decline in renal function in patients with Fabry disease. Am J Nephrol 29(5):353–361

    Article  PubMed  CAS  Google Scholar 

  52. West M, Nicholls K, Mehta A, Clarke JT, Steiner R, Beck M et al (2009 May) Agalsidase alfa and kidney dysfunction in Fabry disease. J Am Soc Nephrol 20(5):1132–1139

    Article  PubMed  CAS  Google Scholar 

  53. Kovacevic-Preradovic T, Zuber M, Attenhofer Jost CH, Widmer U, Seifert B, Schulthess G et al (2008 Nov) Anderson-Fabry disease: long-term echocardiographic follow-up under enzyme replacement therapy. Eur J Echocardiogr 9(6):729–735

    Article  PubMed  CAS  Google Scholar 

  54. Imbriaco M, Pisani A, Spinelli L, Cuocolo A, Messalli G, Capuano E et al (2009 Jul) Effects of enzyme-replacement therapy in patients with Anderson-Fabry disease: a prospective long-term cardiac magnetic resonance imaging study. Heart 95(13):1103–1107

    Article  PubMed  CAS  Google Scholar 

  55. Tahir H, Jackson LL, Warnock DG (2007 Sep) Antiproteinuric therapy and fabry nephropathy: sustained reduction of proteinuria in patients receiving enzyme replacement therapy with agalsidase-beta. J Am Soc Nephrol 18(9):2609–2617

    Article  PubMed  CAS  Google Scholar 

  56. Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE et al (2004 Jul) Long-term safety and efficacy of enzyme replacement therapy for Fabry disease. Am J Hum Genet 75(1):65–74

    Article  PubMed  CAS  Google Scholar 

  57. Whybra C, Kampmann C, Krummenauer F, Ries M, Mengel E, Miebach E et al (2004 Apr) The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy. Clin Genet 65(4):299–307

    Article  PubMed  CAS  Google Scholar 

  58. Parini R, Rigoldi M, Santus F, Furlan F, De Lorenzo P, Valsecchi G et al (2008 Sep) Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson-Fabry disease: testing the effects with the Mainz Severity Score Index. Clin Genet 74(3):260–266

    Article  PubMed  CAS  Google Scholar 

  59. Cleeland CS, Ryan KM (1994 Mar) Pain assessment: global use of the Brief Pain Inventory. Ann Acad Med Singapore 23(2):129–138

    PubMed  CAS  Google Scholar 

  60. Ramaswami U, Pintos G, Kalkim G, Parini R, Beck M (2006) Effect of agalsidase alfa on pain in adolescents with FD: Data from FOS- The Fabry outcome Survery. JIMD 29(Suppl 1):46

    Google Scholar 

  61. Milligan A, Hughes D, Goodwin S, Richfield L, Mehta A (2006) Intravenous enzyme replacement therapy: better in home or hospital? Br J Nurs 15(6):330–333

    PubMed  CAS  Google Scholar 

  62. Lubanda JC, Anijalg E, Bzduch V, Thurberg BL, Benichou B, Tylki-Szymanska A (2009 Apr) Evaluation of a low dose, after a standard therapeutic dose, of agalsidase beta during enzyme replacement therapy in patients with Fabry disease. Genet Med 11(4):256–264

    Article  PubMed  CAS  Google Scholar 

  63. Pintos-Morell G, Beck M (2009 Feb) Fabry disease in children and the effects of enzyme replacement treatment. Eur J Pediatr 168(11):1355–1363

    Article  PubMed  CAS  Google Scholar 

  64. Benichou B, Goyal S, Sung C, Norfleet AM, O’Brien F (2009 Jan) A retrospective analysis of the potential impact of IgG antibodies to agalsidase beta on efficacy during enzyme replacement therapy for Fabry disease. Mol Genet Metab 96(1):4–12

    Article  PubMed  CAS  Google Scholar 

  65. Auray-Blais C, Cyr D, Ntwari A, West ML, Cox-Brinkman J, Bichet DG et al (2008 Mar) Urinary globotriaosylceramide excretion correlates with the genotype in children and adults with Fabry disease. Mol Genet Metab 93(3):331–340

    Article  PubMed  CAS  Google Scholar 

  66. Schafer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G et al (2005 Apr) Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease. Hum Mutat 25(4):412

    Article  PubMed  Google Scholar 

  67. Vedder AC, Linthorst GE, van Breemen MJ, Groener JE, Bemelman FJ, Strijland A et al (2007 Feb) The Dutch Fabry cohort: diversity of clinical manifestations and Gb3 levels. J Inherit Metab Dis 30(1):68–78

    Article  PubMed  CAS  Google Scholar 

  68. Whitfield PD, Calvin J, Hogg S, O’Driscoll E, Halsall D, Burling K et al (2005) Monitoring enzyme replacement therapy in Fabry disease–role of urine globotriaosylceramide. J Inherit Metab Dis 28(1):21–33

    Article  PubMed  CAS  Google Scholar 

  69. Aerts JM, Groener JE, Kuiper S, Donker-Koopman WE, Strijland A, Ottenhoff R et al (2008 Feb 26) Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 105(8):2812–2817

    Article  PubMed  CAS  Google Scholar 

  70. Jaradeh SS, Prieto TE (2003 May) Evaluation of the autonomic nervous system. Phys Med Rehabil Clin N Am 14(2):287–305

    Article  PubMed  Google Scholar 

  71. Schiffmann R, Scott LJ (2002) Pathophysiology and assessment of neuropathic pain in Fabry disease. Acta Paediatr Suppl 91(439):48–52

    Article  PubMed  CAS  Google Scholar 

  72. Laaksonen SM, Roytta M, Jaaskelainen SK, Kantola I, Penttinen M, Falck B (2008 Jun) Neuropathic symptoms and findings in women with Fabry disease. Clin Neurophysiol 119(6):1365–1372

    Article  PubMed  Google Scholar 

  73. Peltier A, Smith AG, Russell JW, Sheikh K, Bixby B, Howard J et al (2009 Apr) Reliability of quantitative sudomotor axon reflex testing and quantitative sensory testing in neuropathy of impaired glucose regulation. Muscle Nerve 39(4):529–535

    Article  PubMed  Google Scholar 

  74. Cleeland CS (2002) Pain assessment: the advantages of using pain scales in lysosomal storage diseases. Acta Paediatr Suppl 91(439):43–47

    Article  PubMed  CAS  Google Scholar 

  75. McDermott AM, Toelle TR, Rowbotham DJ, Schaefer CP, Dukes EM (2006 Feb) The burden of neuropathic pain: results from a cross-sectional survey. Eur J Pain (London, England) 10(2):127–135

    Article  Google Scholar 

  76. Beck M (2009 Feb) Agalsidase alfa for the treatment of Fabry disease: new data on clinical efficacy and safety. Expert Opin Biol Ther 9(2):255–261

    Article  PubMed  CAS  Google Scholar 

  77. Mehta A, Ricci R, Widmer U, Dehout F, Garcia de Lorenzo A, Kampmann C et al (2004) Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 34(3):236–242

    Article  PubMed  CAS  Google Scholar 

  78. Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ et al (2005) Pediatric Fabry disease. Pediatrics 115(3):e344–e355

    Article  PubMed  Google Scholar 

  79. Hopkin RJ, Bissler J, Banikazemi M, Clarke L, Eng CM, Germain DP et al (2008 Nov) Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res 64(5):550–555

    Article  PubMed  Google Scholar 

  80. Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH (2007 Nov) Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis 30(6):943–951

    Article  PubMed  CAS  Google Scholar 

  81. Dworkin RH, Turk DC, Wyrwich KW, Beaton D, Cleeland CS, Farrar JT et al (2008 Feb) Interpreting the clinical importance of treatment outcomes in chronic pain clinical trials: IMMPACT recommendations. J Pain 9(2):105–121

    Article  PubMed  Google Scholar 

  82. Hughes DA, Ramaswami U, Elliott P, Deegan P, Lee P, Waldek S, Apperley G, Cox T, Mehta AB (2004) UK National guidelines for the diagnosis and management of Anderson-Fabry Disease. http://wwwncgnhsuk/documents/lsd_guidelines_for_anderson-fabry_disease-010805pdf

  83. Genzyme (2009) A study of two Fabrazyme Dosing Regimens in Treatment-naïve, Male Pediatric Patients Without Severe Symptoms (FIELD). http://clinicaltrialsgov/ct2/show/NCT00701415

  84. Counahan R, Chantler C, Ghazali S, Kirkwood B, Rose F, Barratt TM (1976 Nov) Estimation of glomerular filtration rate from plasma creatinine concentration in children. Arch Dis Child 51(11):875–878

    Article  PubMed  CAS  Google Scholar 

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Authors and Affiliations

  1. Department of Paediatrics, Addenbrooke’s Hospital, Cambridge, UK

    Uma Ramaswami

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  1. Uma Ramaswami
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Correspondence to Uma Ramaswami .

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Editors and Affiliations

  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Ramaswami, U. (2010). Enzyme Replacement Therapy in Children with Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_28

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