What should rheumatologists know about Gaucher disease and Fabry disease? Connecting the dots for an overview

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Citações na Scopus
0
Tipo de produção
article
Data de publicação
2024
DOI
Scopus
Web of Science
PubMed
Dimensions
Título da Revista
ISSN da Revista
Título do Volume
Editora
BMC
Autores
ROSA NETO, Nilton Salles
Citação
ADVANCES IN RHEUMATOLOGY, v.64, n.1, article ID 22, 9p, 2024
Projetos de Pesquisa
Unidades Organizacionais
Fascículo
Resumo
Gaucher and Fabry diseases are lysosomal storage disorders in which deficient enzyme activity leads to pathological accumulation of sphingolipids. These diseases have a broad phenotypic presentation. Musculoskeletal symptoms and pain complaints are frequently reported by patients. Thus, rheumatologists can be contacted by these patients, contributing to the correct diagnosis, earlier indication of appropriate treatment and improvement of their prognosis. This review describes important concepts about Gaucher and Fabry diseases that rheumatologists should understand to improve patients' quality of life and change the natural history of these diseases.
Palavras-chave
Inborn errors of metabolism, Lysosomal storage diseases, Sphingolipids, Sphingolipidoses, Gaucher disease, Fabry disease, Rheumatic diseases, Rare diseases
URI
https://observatorio.fm.usp.br/handle/OPI/59138
Referências
  1. Rabbo MA, 2021, LIPIDS HEALTH DIS, V20, DOI 10.1186/s12944-021-01466-0
  2. Aerts JM, 2008, P NATL ACAD SCI USA, V105, P2812, DOI 10.1073/pnas.0712309105
  3. Applegarth DA, 2000, PEDIATRICS, V105, part. no., DOI 10.1542/peds.105.1.e10
  4. Arends M, 2017, J AM SOC NEPHROL, V28, P1631, DOI 10.1681/ASN.2016090964
  5. Azevedo O, 2021, INT J MOL SCI, V22, DOI 10.3390/ijms22010206
  6. Beck M, 2018, DEV MED CHILD NEUROL, V60, P13, DOI 10.1111/dmcn.13600
  7. Bichet DG, 2023, FRONT MED-LAUSANNE, V10, DOI 10.3389/fmed.2023.1220637
  8. Chao CT, 2012, AM J KIDNEY DIS, V59, P161, DOI 10.1053/j.ajkd.2011.10.010
  9. Charrow J, 2000, ARCH INTERN MED, V160, P2835, DOI 10.1001/archinte.160.18.2835
  10. Cimaz R, 2011, CLIN RHEUMATOL, V30, P467, DOI 10.1007/s10067-010-1445-z
  11. Dardis A, 2022, ORPHANET J RARE DIS, V17, DOI 10.1186/s13023-022-02573-6
  12. Deegan PB, 2011, MEDICINE, V90, P52, DOI 10.1097/MD.0b013e3182057be4
  13. Deegan PB, 2006, J MED GENET, V43, P347, DOI 10.1136/jmg.2005.036327
  14. Drugan C, 2002, BLOOD CELL MOL DIS, V28, P13, DOI 10.1006/bcmd.2001.0479
  15. Echevarria L, 2016, CLIN GENET, V89, P44, DOI 10.1111/cge.12613
  16. Fateen E, 2019, HELIYON, V5, DOI 10.1016/j.heliyon.2019.e02574
  17. Ferreira CR, 2021, J INHERIT METAB DIS, V44, P164, DOI 10.1002/jimd.12348
  18. Ferreira CR, 2017, METABOLIC DISEASES: FOUNDATIONS OF CLINICAL MANAGEMENT, GENETICS, AND PATHOLOGY, 2ND EDITION, P367, DOI [10.3233/978-1-61499-718-4-367, 10.3233/TRD-160005]
  19. Gal A, 2011, J INHERIT METAB DIS, V34, P509, DOI 10.1007/s10545-010-9261-9
  20. Garman SC, 2007, ACTA PAEDIATR, V96, P6, DOI 10.1111/j.1651-2227.2007.00198.x
  21. Gault CR, 2010, ADV EXP MED BIOL, V688, P1
  22. Germain DP, 2016, NEW ENGL J MED, V375, P545, DOI 10.1056/NEJMoa1510198
  23. Hollak CEM, 2015, BEST PRACT RES CL EN, V29, P205, DOI 10.1016/j.beem.2014.08.006
  24. Hughes D, 2023, GENET MED, V25, DOI 10.1016/j.gim.2023.100968
  25. Hughes D, 2019, J BONE MINER RES, V34, P996, DOI 10.1002/jbmr.3734
  26. James RA, 2016, J PAEDIATR CHILD H, V52, P262, DOI 10.1111/jpc.13122
  27. Javier RM, 2011, OSTEOPOROSIS INT, V22, P1255, DOI 10.1007/s00198-010-1342-y
  28. Kang LL, 2018, BLOOD CELL MOL DIS, V68, P60, DOI 10.1016/j.bcmd.2017.04.001
  29. Kishnani PS, 2022, MOL GENET METAB, V135, P154, DOI 10.1016/j.ymgme.2021.12.009
  30. Lal TR, 2020, NEUROLOGY, V95, pE2119, DOI 10.1212/WNL.0000000000010605
  31. Lenders M, 2022, GUT MICROBES, V14, DOI 10.1080/19490976.2022.2027852
  32. Lenders M, 2021, NEPHROL DIAL TRANSPL, V36, P14, DOI 10.1093/ndt/gfab038
  33. Lenders M, 2021, DRUGS, V81, P635, DOI 10.1007/s40265-021-01486-1
  34. Lenders M, 2020, MOL THER-METH CLIN D, V19, P24, DOI 10.1016/j.omtm.2020.08.012
  35. Loret A, 2023, ORPHANET J RARE DIS, V18, DOI 10.1186/s13023-023-02810-6
  36. Manger B, 2007, CLIN RHEUMATOL, V26, P335, DOI 10.1007/s10067-006-0299-x
  37. Manna R, 2017, INTERN EMERG MED, V12, P1059, DOI 10.1007/s11739-017-1704-y
  38. Marchesoni CL, 2010, J PEDIATR-US, V156, P828, DOI 10.1016/j.jpeds.2010.02.012
  39. Mehta A, 2004, EUR J CLIN INVEST, V34, P236, DOI 10.1111/j.1365-2362.2004.01309.x
  40. Meikle PJ, 1999, JAMA-J AM MED ASSOC, V281, P249, DOI 10.1001/jama.281.3.249
  41. Michels H, 2008, CURR OPIN RHEUMATOL, V20, P76, DOI 10.1097/BOR.0b013e3282f169fe
  42. Mistry PK, 2011, AM J HEMATOL, V86, P110, DOI 10.1002/ajh.21888
  43. Moiseev S, 2020, ANN RHEUM DIS, V79, DOI 10.1136/annrheumdis-2019-215476
  44. Nalysnyk L, 2017, HEMATOLOGY, V22, P65, DOI 10.1080/10245332.2016.1240391
  45. Ortiz A, 2018, MOL GENET METAB, V123, P416, DOI 10.1016/j.ymgme.2018.02.014
  46. Pagnini I, 2011, ARTHRIT CARE RES, V63, P390, DOI 10.1002/acr.20385
  47. Platt FM, 2018, NAT REV DIS PRIMERS, V4, DOI 10.1038/s41572-018-0025-4
  48. Platt FM, 2014, NATURE, V510, P68, DOI 10.1038/nature13476
  49. Politei J, 2016, EUR J RHEUMATOL, V3, P182, DOI 10.5152/eurjrheum.2016.15073
  50. Quinville BM, 2021, INT J MOL SCI, V22, DOI 10.3390/ijms22115793
  51. Reed M, 2013, BLOOD CELL MOL DIS, V51, P185, DOI 10.1016/j.bcmd.2013.04.006
  52. Revel-Vilk S, 2018, BRIT J HAEMATOL, V182, P467, DOI 10.1111/bjh.15402
  53. Neto NSR, 2020, ADV RHEUMATOL, V60, DOI 10.1186/s42358-019-0111-7
  54. Rosenbloom BE, 2022, AM J HEMATOL, V97, P1337, DOI 10.1002/ajh.26675
  55. Saito S, 2011, J HUM GENET, V56, P467, DOI 10.1038/jhg.2011.31
  56. Sanchez-Niño MD, 2011, NEPHROL DIAL TRANSPL, V26, P1797, DOI 10.1093/ndt/gfq306
  57. Sanderson S, 2006, ARCH DIS CHILD, V91, P896, DOI 10.1136/adc.2005.091637
  58. Schiffmann R, 2016, PEDIATR NEUROL, V64, P10, DOI 10.1016/j.pediatrneurol.2016.07.001
  59. Stepien KM, 2023, ORPHANET J RARE DIS, V18, DOI 10.1186/s13023-023-02796-1
  60. Stirnemann J, 2012, ORPHANET J RARE DIS, V7, DOI 10.1186/1750-1172-7-77
  61. Sun A, 2018, ANN TRANSL MED, V6, DOI 10.21037/atm.2018.11.39
  62. Suner L, 2022, NEW ENGL J MED, V386, P1932, DOI 10.1056/NEJMicm2116167
  63. Vellodi A, 2009, J INHERIT METAB DIS, V32, P660, DOI 10.1007/s10545-009-1164-2
  64. Villalobos J, 2013, JIMD REP, V8, P91, DOI 10.1007/8904_2012_165
  65. Wanner C, 2018, MOL GENET METAB, V124, P189, DOI 10.1016/j.ymgme.2018.06.004
  66. Wenstrup RJ, 2002, BRIT J RADIOL, V75, pA2, DOI 10.1259/bjr.75.suppl_1.750002
  67. Wong KD, 2004, MOL GENET METAB, V82, P192, DOI 10.1016/j.ymgme.2004.04.011
  68. Yuasa T, 2017, J ECHOCARDIOGR, V15, P151, DOI 10.1007/s12574-017-0340-x
  69. Zampetti A, 2012, BRIT J DERMATOL, V166, P712, DOI 10.1111/j.1365-2133.2012.10742.x

Coleções
Artigos e Materiais de Revistas Científicas - HC/ICHC