Management of bone disease in cystinosis: Statement from an international conference.

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  • Additional Information
    • Source:
      Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE
    • Publication Information:
      Publication: 2019- : [Hoboken, NJ] : Wiley
      Original Publication: [Lancaster, Eng.] MTP Press.
    • Subject Terms:
    • Abstract:
      Cystinosis is an autosomal recessive storage disease due to impaired transport of cystine out of lysosomes. Since the accumulation of intracellular cystine affects all organs and tissues, the management of cystinosis requires a specialized multidisciplinary team consisting of pediatricians, nephrologists, nutritionists, ophthalmologists, endocrinologists, neurologists' geneticists, and orthopedic surgeons. Treatment with cysteamine can delay or prevent most clinical manifestations of cystinosis, except the renal Fanconi syndrome. Virtually all individuals with classical, nephropathic cystinosis suffer from cystinosis metabolic bone disease (CMBD), related to the renal Fanconi syndrome in infancy and progressive chronic kidney disease (CKD) later in life. Manifestations of CMBD include hypophosphatemic rickets in infancy, and renal osteodystrophy associated with CKD resulting in bone deformities, osteomalacia, osteoporosis, fractures, and short stature. Assessment of CMBD involves monitoring growth, leg deformities, blood levels of phosphate, electrolytes, bicarbonate, calcium, and alkaline phosphatase, periodically obtaining bone radiographs, determining levels of critical hormones and vitamins, such as thyroid hormone, parathyroid hormone, 25(OH) vitamin D, and testosterone in males, and surveillance for nonrenal complications of cystinosis such as myopathy. Treatment includes replacement of urinary losses, cystine depletion with oral cysteamine, vitamin D, hormone replacement, physical therapy, and corrective orthopedic surgery. The recommendations in this article came from an expert meeting on CMBD that took place in Salzburg, Austria, in December 2016.
      (© 2019 The Authors. Journal of Inherited Metabolic Disease published by John Wiley & Sons Ltd on behalf of SSIEM.)
    • References:
      Pediatr Nephrol. 2010 Jan;25(1):3-5. (PMID: 19603191)
      Mol Genet Metab. 2014 Mar;111(3):314-320. (PMID: 24440466)
      J Bone Miner Res. 2018 Oct;33(10):1870-1880. (PMID: 29905968)
      J Pediatr. 2001 Jun;138(6):880-7. (PMID: 11391333)
      Ann Clin Biochem. 2012 Nov;49(Pt 6):546-53. (PMID: 22984195)
      Pediatr Nephrol. 2012 Jul;27(7):1139-48. (PMID: 22350304)
      Nephrol Dial Transplant. 2015 Mar;30(3):475-80. (PMID: 25348508)
      Pediatr Nephrol. 2010 Dec;25(12):2393-400. (PMID: 20458595)
      Orphanet J Rare Dis. 2016 Apr 22;11:47. (PMID: 27102039)
      J Clin Endocrinol Metab. 2014 Oct;99(10):E1854-61. (PMID: 25057883)
      J Investig Med. 2016 Apr;64(4):861-6. (PMID: 26969749)
      Nephrol Dial Transplant. 2018 Sep 1;33(9):1525-1532. (PMID: 29365190)
      Pediatr Nephrol. 2006 Feb;21(2):151-9. (PMID: 16247644)
      Am J Kidney Dis. 2011 Sep;58(3):374-82. (PMID: 21636193)
      N Engl J Med. 1988 Jul 28;319(4):223-6. (PMID: 3292915)
      Clin J Am Soc Nephrol. 2015 Jan 7;10(1):127-34. (PMID: 25352379)
      Kidney Int. 2015 Mar;87(3):502-28. (PMID: 25651364)
      Mol Cell Biol. 2002 Nov;22(21):7622-32. (PMID: 12370309)
      Kidney Int. 2015 Dec;88(6):1356-1364. (PMID: 26331407)
      Nat Rev Nephrol. 2019 Sep;15(9):577-589. (PMID: 31197263)
      J Bone Miner Res. 2013 Jan;28(1):2-17. (PMID: 23197339)
      J Pediatr. 2017 Apr;183S:S2-S4. (PMID: 28343472)
      Am J Kidney Dis. 2003 Oct;42(4 Suppl 3):S1-201. (PMID: 14520607)
      JIMD Rep. 2014;16:25-30. (PMID: 24798266)
      Pediatr Nephrol. 2005 Mar;20(3):313-8. (PMID: 15692835)
      J Pediatr. 2004 Oct;145(4):555-60. (PMID: 15480385)
      Endocrinology. 2015 Jun;156(6):2349-64. (PMID: 25811319)
      J Inherit Metab Dis. 2019 Sep;42(5):1019-1029. (PMID: 31177550)
      Science. 1982 Sep 24;217(4566):1263-5. (PMID: 7112129)
      Kidney Int. 2013 Nov;84(5):886-94. (PMID: 23802194)
      N Engl J Med. 1988 Dec 1;319(22):1461-4. (PMID: 3185663)
      Pediatr Nephrol. 2015 Jun;30(6):945-51. (PMID: 25526929)
      N Engl J Med. 1987 Apr 16;316(16):971-7. (PMID: 3550461)
      Curr Opin Pediatr. 2014 Apr;26(2):198-206. (PMID: 24535492)
      Bone. 2000 Feb;26(2):103-9. (PMID: 10678403)
      Nat Rev Nephrol. 2017 Feb;13(2):115-131. (PMID: 27990015)
      J Bone Miner Metab. 2005;23(3):266-9. (PMID: 15838631)
      Ann Intern Med. 2007 Aug 21;147(4):242-50. (PMID: 17709758)
      N Engl J Med. 1990 Aug 30;323(9):565-70. (PMID: 2381441)
      Acta Paediatr. 2008 Sep;97(9):1159-64. (PMID: 18624988)
      Semin Nephrol. 2009 Mar;29(2):133-43. (PMID: 19371804)
      Kidney Int. 2012 Jan;81(2):179-89. (PMID: 21900880)
      Am J Pathol. 2019 May;189(5):1053-1064. (PMID: 30794806)
      Nephrol Dial Transplant. 2014 Sep;29 Suppl 4:iv87-94. (PMID: 25165189)
      Nat Genet. 1998 Apr;18(4):319-24. (PMID: 9537412)
      PLoS One. 2015 Feb 06;10(2):e0113482. (PMID: 25659076)
      Nephrol Dial Transplant. 2017 Jul 1;32(7):1098-1113. (PMID: 28873969)
      J Transl Med. 2015 May 07;13:143. (PMID: 25947233)
      Pediatr Nephrol. 2012 Nov;27(11):2123-2127. (PMID: 22664570)
      Pediatr Nephrol. 2013 Jan;28(1):51-9. (PMID: 22903658)
      N Engl J Med. 1993 Apr 22;328(16):1157-62. (PMID: 8455682)
      Clin J Am Soc Nephrol. 2014 Feb;9(2):344-53. (PMID: 24311704)
      Pediatr Nephrol. 2003 Apr;18(4):384-90. (PMID: 12700967)
      Kidney Int. 2006 Jun;69(11):1945-53. (PMID: 16641930)
      Transpl Int. 2012 Mar;25(3):276-82. (PMID: 22187956)
      Endocr Dev. 2009;16:49-57. (PMID: 19494660)
      Kidney Int. 2006 Oct;70(8):1463-7. (PMID: 16941029)
      Pediatr Nephrol. 1997 Oct;11(5):578-83. (PMID: 9323283)
      Kidney Int. 2017 Jul;92(1):26-36. (PMID: 28646995)
      N Engl J Med. 1987 Mar 26;316(13):775-9. (PMID: 3821824)
      JIMD Rep. 2018;38:1-6. (PMID: 28405942)
    • Contributed Indexing:
      Keywords: CKD-MBD; Fanconi syndrome; chronic kidney disease; cystinosis; cystinosis metabolic bone disease; hypophosphatemic rickets; transplantation
    • Accession Number:
      5UX2SD1KE2 (Cysteamine)
    • Publication Date:
      Date Created: 20190610 Date Completed: 20200916 Latest Revision: 20240731
    • Publication Date:
      20240731
    • Accession Number:
      PMC7379238
    • Accession Number:
      10.1002/jimd.12134
    • Accession Number:
      31177550