Fabry disease in childhood

Journal of Pediatrics

Volumn 144, Issue 5 SUPPL., 2004, Pages

  Desnick, Robert J ^a   Brady, Roscoe O ^b  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

AGALSIDASE ALFA; AGALSIDASE BETA; CARBAMAZEPINE; GABAPENTIN; METOCLOPRAMIDE; NARCOTIC ANALGESIC AGENT; NONSTEROID ANTIINFLAMMATORY AGENT; PANCRELIPASE; PHENYTOIN;

ABDOMINAL DISCOMFORT; ACUTE ABDOMEN; CHILD; CHILDHOOD; CLINICAL FEATURE; CLINICAL TRIAL; CONFERENCE PAPER; CORNEA OPACITY; DIARRHEA; DIGESTIVE SYSTEM FUNCTION DISORDER; ENZYME REPLACEMENT; EYE DISEASE; FABRY DISEASE; FACE DYSMORPHIA; FAMILY HISTORY; GENETIC COUNSELING; HEMANGIOKERATOMA; HUMAN; LABORATORY TEST; NAUSEA AND VOMITING; NEUROPATHIC PAIN; PRIORITY JOURNAL; SKELETON MALFORMATION; SKIN DISEASE;

EID: 2342524106     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpeds.2004.01.051     Document Type: Conference Paper

References (34)

1. Brady RO, Gal AE, Bradley RM, Martensson E, Warshaw AL, Laster L. Enzymatic defect in Fabry's disease: ceramidetrihexosidase deficiency. N Engl J Med 1967;276:1163-7.
2. Desnick RJ, Ioannou YA, Eng CM. Alpha-galactosidase A deficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS, et al, eds. Metabolic and molecular bases of inherited disease. New York: McGraw Hill; 2001. p. 3733-74.
3. 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;38:750-60.
4. Colombi A, Kostyal A, Bracher R, Gloor F, Mazzi R, Tholen H. Angiokeratoma corporis diffusum - Fabry's disease. Helv Med Acta 1967; 34:67-83.
5. Meikle PJ, Hopwood JJ, Clague AE, Carey WF. Prevalence of lysosomal storage disorders. JAMA 1999;281:249-54.
6. MacDermot 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;38:769-75.
7. Van Loo A, Vanholder R, Madsen K, Praet M, Kint J, De Paepe A, et al. Novel frameshift mutation in a heterozygous woman with Fabry disease and end-stage renal failure. Am J Nephrol 1996;16:352-7.
8. Puck JM, Willard HF. X inactivation in females with X-linked disease. N Engl J Med 1998;338:325-8.
9. Desnick RJ, Simmons RL, Allen KY, Woods JE, Anderson CF, Najarian JS, et al. Correction of enzymatic deficiencies by renal transplantation: Fabry's disease. Surgery 1972;72:203-11.
10. Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, et al. An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med 1995;333:288-93.
11. von Scheidt W, Eng CM, Fitzmaurice TF, Erdmann E, Hubner G, Olsen EG, et al. An atypical variant of Fabry's disease with manifestations confined to the myocardium. N Engl J Med 1991;324:395-9.
12. Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, et al. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a "renal variant" phenotype. Kidney Int 2003;64:801-7.
13. Morgan SH, Crawfurd MA. Anderson-Fabry disease. BMJ 1988; 297:872-3.
14. Schiffmann R, Murray GJ, Treco D, Daniel P, Sellos-Moura M, Myers M, et al. Infusion of alpha-galactosidase A reduces tissue globotriaosylceramide storage in patients with Fabry disease. Proc Natl Acad Sci U S A 2000;97:365-70.
15. Eng CM, Banikazemi M, Gordon RE, Goldman M, Phelps R, Kim L, et al. A phase 1/2 clinical trial of enzyme replacement in Fabry disease: pharmacokinetic, substrate clearance, and safety studies. Am J Hum Genet 2001;68:711-22.
16. Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, et al. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA 2001;285:2743-9.
17. Eng CM, Guffon N, Wilcox WR, Germain DP, Lee P, Waldek S, et al. Safety and efficacy of recombinant human alpha-galactosidase A - replacement therapy in Fabry's disease. N Engl J Med 2001;345:9-16.
18. Moore DF, Altarescu G, Herscovitch P, Schiffmann R. Enzyme replacement reverses abnormal cerebrovascular responses in Fabry disease. BMC Neurol 2002;2:4.
19. Brady RO, Schiffmann R. Clinical features of and recent advances in therapy for Fabry disease. JAMA 2000;284:2771-5.
20. Filling-Katz MR, Merrick HF, Fink JK, Miles RB, Sokol J, Barton NW. Carbamazepine in Fabry's disease: effective analgesia with dose-dependent exacerbation of autonomic dysfunction. Neurology 1989;39: 598-600.
21. Argoff CE, Barton NW, Brady RO, Ziessman HA. Gastrointestinal symptoms and delayed gastric emptying in Fabry's disease: response to metoclopramide. Nucl Med Commun 1998;19:887-91.
22. Sheth KJ, Werlin SL, Freeman ME, Hodach AE. Gastrointestinal structure and function in Fabry's disease. Am J Gastroenterol 1981;76:246-51.
23. Nelis GF, Jacobs GJ. Anorexia, weight loss, and diarrhea as presenting symptoms of angiokeratoma corporis diffusum (Fabry-Anderson's disease). Dig Dis Sci 1989;34:1798-800.
24. Desnick RJ, Allen KY, Desnick SJ, Raman MK, Bernlohr RW, Krivit W. Fabry's disease: enzymatic diagnosis of hemizygotes and heterozygotes: alpha-galactosidase activities in plasma, serum, urine, and leukocytes. J Lab Clin Med 1973;81:157-71.
25. Brady RO, Uhlendorf BW, Jacobson CB. Fabry's disease: antenatal detection. Science 1971;172:174-5.
26. Desnick RJ, Brady R, Barranger J, Collins AJ, Germain DP, Goldman M, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Ann Intern Med 2003;138:338-46.
27. Lockman LA, Hunninghake DB, Krivit W, Desnick RJ. Relief of pain of Fabry's disease by diphenylhydantoin. Neurology 1973;23:871-5.
28. Lenoir G, Rivron M, Gubler MC, Dufier JL, Tome FS, Guivarch M. [Fabry's disease: carbamazepine therapy in acrodyniform syndrome]. Arch Fr Pediatr 1977;34:704-16.
29. Germain DP. [Fabry's disease (alpha-galactosidase-A deficiency): recent therapeutic innovations]. J Soc Biol 2002;196:183-90.
30. Elleder M, Poupetova H, Kozich V. [Fetal pathology in Fabry's disease and mucopolysaccharidosis type I]. Cesk Patol 1998;34:7-12.
31. Linthorst G, Blom G, Speijer D, Hollak C, Aerts J. Therapy for Fabry disease: comparison of agalsidase alpha and beta enzyme preparations. [abstract]. J Inher Metab Dis 2002;25(Suppl 1):115.
32. Lee K, Jin X, Zhang K, Copertino L, Andrews L, Baker-Malcolm J, et al. Biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003; 13:305-13.
33. Thurberg BL, Rennke H, Colvin RB, Dikman S, Gordon RE, Collins AB, et al. Globotriaosylceramide accumulation in the Fabry kidney is cleared from multiple cell types after enzyme replacement therapy. Kidney Int 2002; 62:1933-46.
34. Weinreb NJ, Charrow J, Andersson HC, Kaplan P, Kolodny EH, Mistry P, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: a report from the Gaucher Registry. Am J Med 2002;113:112-9.