Focus
La malattia di Anderson-Fabry in etŕ pediatrica
ANDERSON-FABRY’S DISEASE IN PAEDIATRIC AGE
V.I. Guerci, M.G. Pittis, G. Ciana, et al.
Maggio 2003 - pagg. 309
Abstract
Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting
from deficient alpha-galactosidase A activity. The codifying gene has been mapped in
position Xq22.1 and more than 150 mutations are known, most of them confined to individual
pedigrees. Two different phenotypes have been recognised. The most frequent or “classical”
form involves mainly the vascular endothelium and different tissues, particularly kidney,
heart and central nervous system, whilst the second or “atypical” form is primarily limited to
the myocardium. Classic symptoms, such as neuropathic pain, febrile episodes, angiokeratoma
and ocular abnormalities usually start in the first or second decade of life. The progressive
renal, cardiac and cerebrovascular involvement leads to early death. The disease predominantly
affects males, but many female carriers also present variable clinical manifestations
due to random X inactivation. Diagnosis is usually made in adulthood and hitherto
treatment has been mainly symptomatic. Recently, recombinant enzyme replacement therapy
has become available. Paediatricians’ knowledge of the principal clinical symptomatology
of this rare disorder is necessary to make an early diagnosis and to start treatment as
soon as possible, thus avoiding irreversible organ damage. The complexity of this disease
needs a multidisciplinary approach and close monitoring of the clinical efficacy of the treatment.
Parole chiave
Classificazione MeSH
Bibliografia
1. Desnick RJ, Ioannou YA, Eng CM. Alpha-
Galactosidase A Deficiency: Fabry Disease.
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(eds). The Metabolic and Molecular Basis of
Inherited Diseases, 8th edn, New York, Mc-
Graw-Hill, 2001:3733-74.
2. Eng CM, Resnick DJ, Silverman LA, et al. Nature and frequency of mutations in the alpha-galactosidse da A gene that cause Fabry disease. Am J Hum Genet 1993;53:1186-9.
3. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-93.
4. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human α-galactosidase A replacement in Fabry disease. N Engl J Med 2001;345:9-16.
5. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285:2743-49.
6. Brady RO, Murray GJ, Moore DF, Shiffmann R. Enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 2001;4(Suppl 2):18-24.
7. Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002;62(6):1933-46.
8. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA 1999;281:249-54.
9. Morel P. Enfermedad de Fabry: reconocimiento en la edad pediŕtrica. An Esp Pediatr 2002;57(1):45-50.
10. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38(11): 750-60.
11. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophtalmol 1979;97:671-5.
12. Sciffmann R. Natural history of Fabry disease in males: preliminary observations. J Inherit Metab Dis 2001;24(Suppl. 2):1517.
13. Grunfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis 2001;24(suppl.2):71-4.
14. MacDermot KD, Holmes A, Miners AH. Natural History of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001;24(Suppl 2):13-4.
15. Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis 2001;24(Suppl.2):66-70.
16. Anderson W. A case of “Angio-keratoma”. Br J Dermatol 1898;X:113-7.
17. Kampmann C, Baehner F, Ries M, Beck M. Cardiac involvement in Anderson-Fabry disease. J Am Soc Nephrol 2002;13:S147- S149.
18. Germain DP, Avan P, Chassing A, Bonfilis P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002;3:10-9.
19. Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24(Suppl.2):75-83.
20. Ishii S, Nakao S, Minamikawa-Tachino R, et al. Alternative splicing in the alpha-galactosidase A Gene: increased exon inclusion results in the Fabry cardiac Phenotype. Am J Hum Genet 2002;70:994-1002.
21. Brady RO, Schiffmann R. Clinical features of and Recent Advances in Therapy for Fabry Disease. JAMA 2000;284:2771-75.
22. Mac Dermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38(11):769-75.
23. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease. Clin Chim Acta 1981;112:247-51.
24. Donati D, Novario R, Gastaldi L. Natural history and treatment of uremia secondary to Fabry’s disease: An european experience. Nephron 1987;46:353-9.
25. Tsakiris D, Simpson HK, Jones EH, et al. Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA registry. Nephrol Dial Transplant 1996;11:4.
26. Pyeritz RE, Ulman MD, Moser AB, et al. Plasma exchange removes glycosphingolipid in Fabry disease. Am J Med Genet 1980;7:301- 7.
27. Pastores GM, Thadhani R. Enzyme-replacement therapy for Anderson-Fabry disease. Lancet 2001;358:601-3.
28. Eng CM, Banikazemi M, Gordon RE, et al. A phase I/II Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearence, and Safety Studies. Am J Hum Genet 2001;68:711-22.
29. Schiffmann R, Murray GJ, Treco D, et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000; 97:365-70.
2. Eng CM, Resnick DJ, Silverman LA, et al. Nature and frequency of mutations in the alpha-galactosidse da A gene that cause Fabry disease. Am J Hum Genet 1993;53:1186-9.
3. Nakao S, Takenaka T, Maeda M, et al. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-93.
4. Eng CM, Guffon N, Wilcox WR, et al. Safety and efficacy of recombinant human α-galactosidase A replacement in Fabry disease. N Engl J Med 2001;345:9-16.
5. Schiffmann R, Kopp JB, Austin HA, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001; 285:2743-49.
6. Brady RO, Murray GJ, Moore DF, Shiffmann R. Enzyme replacement therapy in Fabry disease. J Inherit Metab Dis 2001;4(Suppl 2):18-24.
7. Thurberg BL, Rennke H, Colvin RB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002;62(6):1933-46.
8. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of Lysosomal Storage Disorders. JAMA 1999;281:249-54.
9. Morel P. Enfermedad de Fabry: reconocimiento en la edad pediŕtrica. An Esp Pediatr 2002;57(1):45-50.
10. MacDermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males. J Med Genet 2001;38(11): 750-60.
11. Sher NA, Letson RD, Desnick RJ. The ocular manifestations in Fabry’s disease. Arch Ophtalmol 1979;97:671-5.
12. Sciffmann R. Natural history of Fabry disease in males: preliminary observations. J Inherit Metab Dis 2001;24(Suppl. 2):1517.
13. Grunfeld JP, Lidove O, Joly D, Barbey F. Renal disease in Fabry patients. J Inherit Metab Dis 2001;24(suppl.2):71-4.
14. MacDermot KD, Holmes A, Miners AH. Natural History of Fabry disease in affected males and obligate carrier females. J Inherit Metab Dis 2001;24(Suppl 2):13-4.
15. Sessa A, Meroni M, Battini G, et al. Renal pathological changes in Fabry disease. J Inherit Metab Dis 2001;24(Suppl.2):66-70.
16. Anderson W. A case of “Angio-keratoma”. Br J Dermatol 1898;X:113-7.
17. Kampmann C, Baehner F, Ries M, Beck M. Cardiac involvement in Anderson-Fabry disease. J Am Soc Nephrol 2002;13:S147- S149.
18. Germain DP, Avan P, Chassing A, Bonfilis P. Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients. BMC Med Genet 2002;3:10-9.
19. Linhart A, Lubanda JC, Palecek T, et al. Cardiac manifestations in Fabry disease. J Inherit Metab Dis 2001;24(Suppl.2):75-83.
20. Ishii S, Nakao S, Minamikawa-Tachino R, et al. Alternative splicing in the alpha-galactosidase A Gene: increased exon inclusion results in the Fabry cardiac Phenotype. Am J Hum Genet 2002;70:994-1002.
21. Brady RO, Schiffmann R. Clinical features of and Recent Advances in Therapy for Fabry Disease. JAMA 2000;284:2771-75.
22. Mac Dermot KD, Holmes A, Miners AH. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females. J Med Genet 2001; 38(11):769-75.
23. Mayes JS, Scheerer JB, Sifers RN, Donaldson ML. Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry’s disease. Clin Chim Acta 1981;112:247-51.
24. Donati D, Novario R, Gastaldi L. Natural history and treatment of uremia secondary to Fabry’s disease: An european experience. Nephron 1987;46:353-9.
25. Tsakiris D, Simpson HK, Jones EH, et al. Report on management of renal failure in Europe, XXVI, 1995. Rare diseases in renal replacement therapy in the ERA-EDTA registry. Nephrol Dial Transplant 1996;11:4.
26. Pyeritz RE, Ulman MD, Moser AB, et al. Plasma exchange removes glycosphingolipid in Fabry disease. Am J Med Genet 1980;7:301- 7.
27. Pastores GM, Thadhani R. Enzyme-replacement therapy for Anderson-Fabry disease. Lancet 2001;358:601-3.
28. Eng CM, Banikazemi M, Gordon RE, et al. A phase I/II Clinical Trial of Enzyme Replacement in Fabry Disease: Pharmacokinetic, Substrate Clearence, and Safety Studies. Am J Hum Genet 2001;68:711-22.
29. Schiffmann R, Murray GJ, Treco D, et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci USA 2000; 97:365-70.