Skip to main content
SpringerLink
Log in

Inherited Metabolic Disease

  • Chapter
  • First Online:
Practical Nephrology

  • 2426 Accesses

Abstract

A number of inherited metabolic diseases with renal manifestations were previously the remit of paediatric nephrologists, but as medical and scientific advances have improved the quality of life of these children, survival well into adult life is a reality. Therefore, adult nephrologists and their multiprofessional teams will be required to familiarise themselves with these conditions and provide continuing therapy. In some situations, such as pregnancy, information is limited and outcomes may be unknown but forming close links with paediatricians and networks of adult nephrologists looking after patients with rare conditions is likely to improve care.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 84.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 109.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van’t Hoff W, Antignac C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet. 1998;18(4):319–24.

    Article  CAS  PubMed  Google Scholar 

  2. Kalatzis V, Antignac C. Cystinosis: from gene to disease. Nephrol Dial Transplant. 2002;17(11):1883–6.

    Article  CAS  PubMed  Google Scholar 

  3. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med. 2002;347:111–21.

    Article  PubMed  Google Scholar 

  4. Levtchenko EN, van Dael CM, de Graaf-Hess AC, Wilmer MJ, van den Heuvel LP, Monnens LA, Blom HJ. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Ped Nephrol. 2006;21(1):110–3.

    Article  Google Scholar 

  5. Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med. 1993;328(16):1157–62.

    Article  CAS  PubMed  Google Scholar 

  6. Geelen JM, Monnens LA, Levtchenko EN. Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant. 2002;17(10):1766–70.

    Article  CAS  PubMed  Google Scholar 

  7. Brodin-Sartorius A, Tete MJ, Niaudet P, Antignac C, et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescents and adults. Kidney Int. 2012;81:179–89.

    Article  CAS  PubMed  Google Scholar 

  8. Cherqui S. Cysteamine therapy: a treatment for cystinosis, not a cure. Kidney Int. 2012;81:127–31.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  9. Langman CB, Greenbaum LA, Sarwal M, Grimm P, Niaudet P, et al. A randomised controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety. Clin J Am Soc Nephrol. 2012;7(7):1112–20.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  10. Buchan B, Kay G, Matthews KH, Cairns D. Suppository formulation as a potential treatment for nephropathic cystinosis. J Pharm Sci. 2012;101(10):3729–38.

    Article  CAS  PubMed  Google Scholar 

  11. Purdue PE, Takada Y, Danpure CJ. Identification of mutations associated with peroxisome-to-mitochondrion mistargeting of alanine/glyoxylate aminotransferase in primary hyperoxaluria type 1. J Cell Biol. 1990;111:2341–51.

    Article  CAS  PubMed  Google Scholar 

  12. Cregeen DP, Williams EL, Hulton SA, Rumsby G. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2. Human Mutation, Mutation in Brief [Online Journal]. 2003. http://www.interscience.wiley.com/humanmutation/pdf/mutation/671.pdf

  13. Belostotsky R, Seboun E, Idelson GH, Milliner DS, Becker-Cohen R, Rinat C, Monico CG, Feinstein S, Ben-Shalom E, Magen D, Weissman I, Charon C, Frishberg Y. Mutations in DHDPSL are responsible for primary hyperoxaluria type III. Am J Hum Genet. 2010;87:392–9.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Rumsby G. An overview of the role of genotyping in the diagnosis of the primary hyperoxalurias. Urol Res. 2005;33:318–20.

    Article  PubMed  Google Scholar 

  15. Williams EL, Acquaviva C, Amoroso A, Chevalier F, Coulter-Mackie M, Monico CM, Giachino D, Owen EP, Robbiano A, Salido E, Waterham H, Rumsby G. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene. Hum Mutat. 2009;30:910–7.

    Article  CAS  PubMed  Google Scholar 

  16. Illies F, Bonzel KE, Wingen AM, Latta K, Hoyer PF. Clearance and removal of oxalate in children on intensified dialysis for primary hyperoxaluria type 1. Kidney Int. 2006;70:1642–8.

    Article  CAS  PubMed  Google Scholar 

  17. Hoppe B, Graf D, Offner G, Latta K, Byrd DJ, Michalk D, Brodehl J. Oxalate elimination via haemodialysis or peritoneal dialysis in children with chronic renal failure. Pediatr Nephrol. 1996;10:488–92.

    Article  CAS  PubMed  Google Scholar 

  18. Perera MT, Sharif K, Lloyd C, Foster K, Hulton SA, Mirza DF, McKiernan PJ. Pre-emptive liver transplantation for primary hyperoxaluria (PH1) arrests long-term renal function deterioration. Nephrol Dial Transplant. 2011;26:354–9.

    Article  PubMed  Google Scholar 

  19. Cochat P, Fargue S, Harambat J. Primary hyperoxaluria type 1: strategy for organ transplantation. Curr Opin Organ Transplant. 2010;15:590–3.

    Article  PubMed  Google Scholar 

  20. Hoppe B, Latta K, von Schnakenburg C, Kemper MJ. Primary hyperoxaluria – the German experience. Am J Nephrol. 2005;25:276–81.

    Article  PubMed  Google Scholar 

  21. Harps E, Brinkert F, Ganschow R, Briem-Richter A, van Husen M, Schmidtke S, Nashan B, Fischer L, Kemper MJ. Immediate postoperative intensive care treatment for pediatric combined liver-kidney transplantation: outcome and prognostic factors. Transplantation. 2011;91:1127–31.

    Article  PubMed  Google Scholar 

  22. Johnson SA, Rumsby G, Cregreen D, Hulton SA. Primary hyperoxaluria type 2 in children. Pediatr Nephrol. 2002;17(8):597–601.

    Article  PubMed  Google Scholar 

  23. Ogier de Baulny H, Saudubray JM. Branched chain organic acidurias. Semin Neonatol. 2002;7:65–74.

    Article  CAS  PubMed  Google Scholar 

  24. Fowler B, Leonard JV, Baumgartner MR. Cause of and diagnostic approach to methylmalonic acidurias. J Inherit Metab Dis. 2008;31:350–60.

    Article  CAS  PubMed  Google Scholar 

  25. Ogier de Baulny H, Benoist JF, Rigal O, Touati G, Rabier D, Saudubray JM. Methylmalonic and proprionic acidaemias: management and outcome. J Inherit Metab Dis. 2005;28:415–23.

    Article  PubMed  Google Scholar 

  26. Hörster F, Hoffmann GF. Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. Pediatr Nephrol. 2004;19:1071–4.

    Article  PubMed  Google Scholar 

  27. Van’t Hoff WG, McKiernan PJ, Surtees RAH, Leonard JV. Liver transplantation for methylmalonic acidaemia. Eur J Pediatr. 1999;158:S70–4.

    Article  Google Scholar 

  28. Paik KH, Lee JE, Jin D-K. Successful dialysis in a boy with methylmalonic academia. Pediatr Nephrol. 2004;19:1180–1.

    Article  PubMed  Google Scholar 

  29. Morioka D, Kasahara M, Horikawa R, Yokoyama S, Fukuda A, Nakagawa A. Efficacy of living donor liver transplantation for patients with methylmalonic academia. Am J Transplant. 2007;7:2782–7.

    Article  CAS  PubMed  Google Scholar 

  30. Leonard JV, Walter JH, McKiernan PJ. The management of organic acidaemias: the role of transplantation. J Inherit Metab Dis. 2001;24:309–11.

    Article  CAS  PubMed  Google Scholar 

  31. McGuire PJ, Lim-Melia E, Diaz GA, Raymond K, Larkin A, Wasserstein MP, Sansaricq C. Combined liver-kidney transplantation for management of methylmalonic aciduria: a case report and review of the literature. Mol Genet Metab. 2008;93:22–9.

    Article  CAS  Google Scholar 

Supplementary Reading

  • Brodin-Sartorius A, Tete M-J, Niaudet P et al. Cysteamine therapy delays the progression of nephropathic cystinosis in late adolescence and adults. Kid Int. 2012;81:179–89

    Google Scholar 

  • Cochat P, Hulton SA, Acquaviva C, Danpure CJ, Daudon M, De Marchi M, Fargue S, Groothoff JW, Harambat J, Hoppe B, Jamieson N, Kemper MJ, Mandrile G, Marangella M, Picca S, Rumsby G, Salido E, Straub M, van Woerden CS, on behalf of OxalEurope. Primary hyperoxaluria type 1: indications for screening and guidance for diagnosis and treatment. Nephrol Dial Transplant. 2012;27:1729–36.

    Article  CAS  PubMed  Google Scholar 

Download references

Acknowledgements

The author would like to thank Drs Anupam Chakrapani and Joanna C Clothier for their input.

Author information

Authors and Affiliations

  1. Department of Nephrology, Birmingham Children’s Hospital, Steelhouse Lane, Birmingham, B4 6NH, UK

    Sally-Anne Hulton MD, FRCP, FRCPCH, MBBCh

Authors
  1. Sally-Anne Hulton MD, FRCP, FRCPCH, MBBCh
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sally-Anne Hulton MD, FRCP, FRCPCH, MBBCh .

Editor information

Editors and Affiliations

  1. UCL Department of Nephrology, Royal Free London NHS Foundation Trust, London, United Kingdom

    Mark Harber

Rights and permissions

Reprints and permissions

Copyright information

© 2014 Springer-Verlag London

About this chapter

Cite this chapter

Hulton, SA. (2014). Inherited Metabolic Disease. In: Harber, M. (eds) Practical Nephrology. Springer, London. https://doi.org/10.1007/978-1-4471-5547-8_45

Download citation

  • DOI: https://doi.org/10.1007/978-1-4471-5547-8_45

  • Published:

  • Publisher Name: Springer, London

  • Print ISBN: 978-1-4471-5546-1

  • Online ISBN: 978-1-4471-5547-8

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation