NEW INSIGHTS INTO RARE METABOLIC DISEASES IN PAEDIATRIC PRACTICE
DOI:
https://doi.org/10.46793/PP180325010FKeywords:
lysosomal enzyme, replacement therapy, rare diseaseAbstract
Rare diseases are those that affect at most one in 2000 persons worldwide. According to the date around 6000-7000 rare diseases have been described until now. Although there are so many differences between rare diseases patents that are affected are facing with the more or less same difficulties. Before a final diagnose they usually spend a few years losing a precious time for the treatment. The aim of this review article is to give insight into a several rare diseases that are successfully treated by enzyme replacement therapy (ERT). A complete search of the Cochrane Central Register of Controlled Trials (CENTRAL) in the Cochrane Library, MEDLINE and Pub Med up to January 2018 was carried out. Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid metabolism due to deficient or absent lysosomal a-galactosidase A activity. Gaucher disease is characterized by a deficiency of acid β-glucosidase and accumulation of glucosylceramide within lysosomes of tissue macrophages. The accumulation of glucosylceramide is responsible for the manifestations of Gaucher disease, including hepatomegaly, splenomegaly, thrombocytopenia, and anemia. MPS I characterized the defect in the gene for α-L-iduronidase (IUDA), an enzyme that degrades glycosaminoglycans (GAGs) in lysosomes. Pompe disease is a rare, progressive, debilitating and often fatal neuromuscular disorder resulting from the deficiency of a lysosomal enzyme, acid alpha-glucosidase (GAA). Enzyme testing on Dried Blood Spots (DBS) is a 1st tier/screening test for all four above mentioned metabolic rare diseases. An enzyme replacement therapy is the only effective treatment patients with Fabry disease, Pompe disease, Gausher disease and MPS I.
References
www.orpha.net
www.globalgenes.org
www.norbs.rs
Dominique PG, Fabry disease. Germain Orphanet Journal of Rare Diseases 2010, 5:30. http://www.ojrd.com/content/5/1/30
Dutsch M, Marthol H, Stemper B, Brys M, Haendl T, Hilz MJ: Small fiber dysfunction predominates in Fabry neuropathy. J Clin Neurophysiol 2002, 19:575-586. PMID: 12488789
Cable WJ, Kolodny EH, Adams RD: Fabry disease: impaired autonomic function. Neurology 1982, 32:498-502.
Neufeld EF: Lysosomal storage diseases. Annu Rev Biochem 1991, 60:257-280. DOI: 10.1146/annurev.bi.60.070191. 001353
Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M: Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey. Acta Paediatr 2006, 95:86-92. PMID: 16498740
Desnick RJ, Brady RO: Fabry disease in childhood. J Pediatr 2004, 144: S20-26. DOI: 10.1016/j.jpeds.2004.01.051
Zarate YA, Hopkin RJ: Fabry’s disease. Lancet 2008, 372:1427-1435. doi: 10.1016/S0140-6736(08)61589-5.
Charrow J: A 14-year-old boy with pain in hands and feet. Pediatr Ann 2009, 38:190-192. PMID: 19455947
Sheth KJ, Werlin SL, Freeman ME, Hodach AE: Gastrointestinal structure and function in Fabry’s disease. Am J Gastroenterol 1981, 76:246-251. PMID: 6274188
Hoffmann B, Schwarz M, Mehta A, Keshav S: Gastrointestinal symptoms in342 patients with Fabry disease: prevalence and response to enzyme replacement therapy. Clin Gastroenterol Hepatol 2007, 5:1447-1453. DOI: 10.1016/j.cgh.2007.08.012
Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, Pastores GM, Strotmann JM, Wilcox WR: Fabry disease: guidelines for the evaluation and management of multiorgan system involvement. Genet Med 2006, 8:539-548. DOI: 10.109701.gim.0000237866.70357.c6
Kang WH, Chun SI, Lee S: Generalized anhidrosis associated with Fabry’s disease. J Am Acad Dermatol 1987, 17:883-887. PMID: 3119682
Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB: Fabry disease and the skin: data from FOS, the Fabry Outcome Survey. Br J Dermatol 2007, 157:331-337. DOI: 10.1111/j.1365-2133.2007.08002.x
Gupta SN, Ries M, Murray GJ, Quirk JM, Brady RO, Lidicker JR, Schiffmann R, Moore DF: Skin-impedance in Fabry Disease: a prospective, controlled, non-randomized clinical study. BMC Neurol 2008, 8:41. DOI: 10.1186/1471-2377-8-41
Shelley ED, Shelley WB, Kurczynski TW: Painful fingers, heat intolerance, and telangiectases of the ear: easily ignored childhood signs of Fabry disease. Pediatr Dermatol 1995, 12:215-219. PMID: 7501549.
Germain DP: [Fabry’s disease (alpha-galactosidase-A deficiency): physiopathology, clinical signs, and genetic aspects]. J Soc Biol 2002, 196:161-173. PMID: 12360745
Keilmann A, Hajioff D, Ramaswami U: Ear symptoms in children with Fabry disease: data from the Fabry Outcome Survey. J Inherit Metab Dis 2009, 32:739-744.
Ries M, Gupta S, Moore DF, Sachdev V, Quirk JM, Murray GJ, Rosing DR, Robinson C, Schaefer E, Gal A, Dambrosia JM, Garman SC, Brady RO, Schiffmann R: Pediatric Fabry disease. Pediatrics 2005, 115:e344-355. DOI: 10.1542/peds.2004-1678
Kampmann C, Wiethoff CM, Whybra C, Baehner FA, Mengel E, Beck M: Cardiac manifestations of Anderson-Fabry disease in children and adolescents. Acta Paediatr 2008, 97:463-469. DOI: 10.1111/j.1651-2227.2008.00700.x
Cabrera-Salazar MA, O’Rourke E, Charria-Ortiz G, Barranger JA: Radiological evidence of early cerebral microvascular disease in young children with Fabry disease. J Pediatr 2005, 147:102-105. DOI: 10.1016/j.jpeds.2005.03.004
Wilcox et al. Anti-α-galactosidase A antibody response to agalsidase beta treatment: Data from the Fabry Registry Mol Genet Metab. 2012;105:443-9. DOI: 10.1016/j.ymgme.2011.12.006
Warnock et al. Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation. Nephrol Dial Transplant. 2012;27:1042-9. DOI: 10.1093/ndt/gfr420
Patel et al. Cardiovascular events in patients with Fabry disease: natural history data from the Fabry registry. J Am Coll Cardiol. 2011;57:1093-9. DOI: 10.1016/j.jacc.2010.11.018
Wanner et al. Prognostic indicators of renal disease progression in adults with Fabry disease: natural history data from the Fabry Registry. Clin J Am Soc Nephrol. 2010;5:2220-8. DOI: 10.2215/CJN.04340510
Watt et al. Agalsidase beta treatment is associated with improved quality of life in patients with Fabry disease: findings from the Fabry Registry. Genet Med. 2010;12:703-1. DOI: 10.1097/GIM.0b013e3181f13a4a
Ortiz et al. End-stage renal disease in patients with Fabry disease: natural history data from the Fabry Registry. Nephrol Dial Transplant. 2010;25:769-75. DOI: 10.1093/ndt/gfp554
Waldek et al. Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry. Genet Med. 2009;11:790-6. DOI: 10.1097/GIM.0b013e3181bb05bb
Sims et al. Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: Natural history data from the Fabry Registry. Stroke. 2009;40:788-94. DOI: 10.1161/STROKEAHA.108.526293
Wilcox et al. Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry. Mol Genet Metab. 2008;93:112-28. DOI: 10.1016/j.ymgme.2007.09.013
Ortiz et al. Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy. Nephrol Dial Transpl. 2008;23:1600-7. DOI: 10.1093/ndt/gfm848
Hopkin et al. Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry. Pediatr Res. 2008;64:550-5. DOI: 10.1203/PDR.0b013e318183f132
Eng et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007;30:184-9. DOI: 10.1007/s10545-007-0521-2
Eng et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med. 2006;8:539-48. DOI: 10.109701.gim.0000237866.70357.c6
Tondel C, Bostad L, Hirth A, Svarstad E: Renal biopsy findings in children and adolescents with Fabry disease and minimal albuminuria. Am J Kidney Dis 2008, 51:767-776. DOI: 10.1053/j.ajkd.2007.12.032
Ramaswami U, Najafian B, Schieppati A, Mauer M, Bichet DG: Assessment of renal pathology and dysfunction in children with Fabry disease. Clin J Am Soc Nephrol 2010, 5:365-370. DOI: 10.2215/CJN.08091109
Schwartz GJ, Haycock GB, Edelmann CM Jr, Spitzer A: A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics 1976, 58:259-263.
Schwartz GJ, Munoz A, Schneider MF, Mak RH, Kaskel F, Warady BA, Furth SL: New equations to estimate GFR in children with CKD. J Am Soc Nephrol 2009, 20:629-637. DOI: 10.1681/ASN.2008030287
Counahan R, Chantler C, Ghazali S, Kirkwood B, Rose F, Barratt TM: Estimation of glomerular filtration rate from plasma creatinine concentration in children. Arch Dis Child 1976, 51:875-878. PMCID: PMC1546071
Tondel C, Ramaswami U, Aakre KM, Wijburg F, Bouwman M, Svarstad E: Monitoring renal function in children with Fabry disease: comparisons of measured and creatinine-based estimated glomerular filtration rate. Nephrol Dial Transplant 2010, 25:1507-1513. DOI: 10.1093/ndt/gfp658
Grabowski GA, Petsko GA, Kolodny EH. Grabowski G.A., Petsko G.A., Kolodny E.H. Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G eds. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw-Hill;2013.http://ommbid.mhmedical.com/ content.aspx?bookid=474&Sectionid=45374148 Accessed November 30, 2015.
Grabowski G, Gregory P, Kolodny E. Gaucher Disease. In: Shriver C, Beaudet A, Sly W, editors. The online Metabolic & Molecular Bases of Inherited Diseases. New York, NY: McGraw Hill Companies 2010. p. 3635-68.
Gaucher Cell, Photomicrograph #2: MedlinePlus Medical Encyclopedia Image." U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 25 Nov 2014. http://www.nlm.nih.gov/medlineplus/ency/imagepages/1451.htm
Grabowski GA, Petsko GA, Kolodny EH. Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. NewYork,NY:McGraw-Hill;2014.
http://ommbid. mhmedical.com/content.aspx?bookid =971&Sectionid=62643884 Accessed August 03, 2015.
Mistry P. Genetics and diagnosis of Gaucher disease. Clinical Advances in Hematology and Oncology 2012;10:7-9.
Kaplan P, Baris H, De Meirleir L, Di Rocco M, El-Beshlawy A, Huemer M, et al. Revised recommendations for the management of Gaucher disease in children. Eur J Pediatr 2013;172:447-58. DOI: 10.1007/s00431-012-1771-z
Grabowski GA, Petsko GA, Kolodny EH. Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. eds. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw-Hill; 2013.
Grabowski G. Phenotype, diagnosis, and treatment of Gaucher's disease. Lancet 2008;372:1263-71. DOI: 10.1016/S0140-6736(08)61522-6
Grabowski GA, Petsko GA, Kolodny EH. Grabowski G.A., Petsko G.A., Kolodny E.H. Gaucher Disease. In: Valle D, Beaudet AL, Vogelstein B, Kinzler KW, Antonarakis SE, Ballabio A, Gibson K, Mitchell G. Valle D, Beaudet A.L., Vogelstein B, Kinzler K.W., Antonarakis S.E., Ballabio A, Gibson K, Mitchell G eds. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw-Hill; 2013.
Estimates based on MPS I Registry data; **Estimates based on Moore et al. Orphanet J Rare Dis 2008;3:24 and MPS I Registry data.
Hirschhorn R, Reuser A.J. Glycogen Storage Disease Type II: Acid. In: Valle D, et al. OMMBID - The Online Metabolic and Molecular Bases of Inherited Diseases. New York,NY:McGraw-Hill;2013. http://ommbid.mhmedical.com/content.aspx?bookid=474&Sectionid=45374135 [Accessed April 2014].
van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008;11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X.
Thurberg BL1, Lynch Maloney C, Vaccaro C, Afonso K, Tsai AC, Bossen E, Kishnani PS, O'Callaghan M. Characterization of pre- and post-treatment pathology after enzyme replacement therapy for Pompe disease. Lab Invest. 2006 Dec;86(12):1208-20. DOI: 10.1038/labinvest.3700484
Kishnani PS et al. Pompe Disease: Diagnosis and Management Guidelines. Genetics in Medicine, 2006: 8(5) 267j-288. DOI: 10.109701.gim.0000218152.87434.f3
American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM). Diagnostic criteria for late-onset (childhood and adult) Pompe disease. Muscle Nerve. 2009;40(1):149-160.
Winchester B, Bali D, Bodamer OA, et al; for Pompe Disease Diagnostic Working Group. Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab. 2008;93(3):275-281.
