SAVREMENI STAVOVI O RETKIM METABOLIČKIM BOLESTIMA KOD DECE

Autori

  • Ivana Filipović Sanofi Genzyme, Beograd, Srbija

DOI:

https://doi.org/10.46793/PP180325010F

Ključne reči:

lizozomski enzim, supstituciona terapija, retke bolesti

Apstrakt

Retke bolesti su one bolesti koje pogađaju jednu od 2000 osoba širom sveta. Prema podacima oko 6000-7000 retkih bolesti je opisano do sada. Iako su one veoma različite oboleli se susreću sa slićnim problemima. Pre posatvljanja dijagnoze ponekad prođe i nekoliko godina, tokom kojih oni izgube dragocene vreme da započnu sa terapijom. Cilj ovog revijalnog rada je da da uvid u nekoliko retkih bolesti koje se uspešno tretiraju enzimskom supstitucionom terapijom. Istraživanje je sprovedeno pretragom the Cochrane Central Register of Controlled Trials (CENTRAL) in the Cochrane bibliotike, MEDLINE i Pub Me do januara 2018. Fabrijeva bolest je progresivno X vezano nasledno oboljenje poremećaja metabolizma glikosfingolipida usled odsustva ilii smanjne aktivnosti lizozomskog enzima a-galaktozidaze. Gošeova bolest se karaktriše nedostatkom ili kisele β-glucozidaze u akumulacijom glukozilceramida u lizozomima tkivnoh makrofaga. Akumulacija glukozilceramida je odgovoorna za kliničku sliku Gošeove boelsti koju karakteriše hepato, splenomegalija, trombocitopneija i anaemija. MPS I  progresivne, nasledne bolesti koje nastaju kako posledica genske mutacije gena za α-L-iduronidazu (IUDA), enzim kojji razlaže glicozaminoglikane (GAGs). Pompeova bolest je retko progresivno oboljenje koje dovodi do nesposobnosti i fatalnog neuromišićnog poremećaja koja nastaje kao posledica nedostataka lizozomalnog enzima alfa glukozidaze. Enzimsko testiranje iz suve kapi krvi je ključno za dijagnozu sve prethodno četiri pomenute retke bolesti. Enzimska supstituciona terapija je jedini efikasna tretman pacijenata sa Fabrijevom bolešću, Gošeovom bolešću, Pompeovom bolešću i MPS I.

Reference

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.

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