Organ retransplantation in inherited inborn of metabolism

  • Pierre Cochat
  • Neville V. Jamieson
  • Laurence Dubourg
  • Janusz Feber
  • Paulo C. Koch Nogueira
Part of the Transplantation and Clinical Immunology book series (TRAC, volume 29)


From the clinical point of view, the conditions associated with recurrence in the transplanted kidney can be classified into 3 groups: (i) inherited inborn errors of metabolism (IEM), (ii) systemic diseases with multiple organ involvement and (iii) glomerulonephritis [1]. Organ transplantation has been introduced during the last 15 years as a possible therapy of IEM. Such a management requires an accurate diagnosis, an early intervention in most cases and a precise knowledge of the biochemical defect. Because of the possible consequences and risks of transplantation, the place of organ replacement is the following issue of conventional therapy of IEM, i.e. treatment at the clinical phenotype level, at the metabolic level and at the dysfunctional protein level [2]. In most cases, transplantation provides the normal protein in its physiological cellular and subcellular locations with respect to its substrates and cosubstrates. Four main conditions can be considered (Tables 1 and 2): (1) transplantation as a replacement of an isolated damaged target organ, such as kidney in nephropathic cystinosis or heart in familial hypercholesterolemia; (2) transplantation as a source for a deficient protein such as displacement marrow transplantation in lysosomal storage diseases or orthotopic liver transplantation in primary hyperoxaluria type 1 (PH1); (3) transplantation as a concommittent protein source and replacement of damaged organ, such as liver transplantation in α-antitrypsin deficiency or tyrosinemia type 1; (4) in cases of combined transplantation, another organ has to be grafted as a replacement of the damaged native one, such as liver + heart in familial hypercholesterolemia or liver + kidney in PH1 [2].


Sickle Cell Disease Enzyme Replacement Therapy Inborn Error Familial Hypercholesterolemia Lysosomal Storage Disease 


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Cochat P, Guibaud P. Principles of organ transplantation in inborn errors of metabolism. In: Touraine JL et al. (eds.), Transplantation and Clinical Immunology XXII. Asterdam: Elsevier Science, 1991: 73–81.Google Scholar
  2. 2.
    Cochat P, Mahmoud A. Transplantation in primary hyperoxaluria type 1. Nephrol Dial Transplant. 1995; 10: 1293–1296.PubMedGoogle Scholar
  3. 3.
    Katz A, Mauer SM. Transplantation in primary hyperoxaluria type 1. Am. J. Med. 1992; 92: 341–342.PubMedCrossRefGoogle Scholar
  4. 4.
    Scheinman JI, Najarian JS, Mauer SM. Successful strategies for renal transplantation in primary oxalosis. Kidney Int. 1984; 25: 804–811.PubMedCrossRefGoogle Scholar
  5. 5.
    Thervet E, Legendre C, Daudon M et al. Is there a place for isolated renal transplantation in the treatment of type 1 primary hyperoxaluria? Experience from Paris. Nephrol. Dial. Transplant. In press.Google Scholar
  6. 6.
    Watts RWE, Calne RY, Rolles K et al. Successful treatment of primary hyperoxaluria type 1 by combined hepatic and renal transplantation. Lancet 1987; 2: 474–475.PubMedCrossRefGoogle Scholar
  7. 7.
    Cochat P, Schärer K. Should liver transplantation be performed before advanced renal insufficiency in primary hyperoxaluria type 1? Pediatr. Nephrol. 1993; 7: 212–218.PubMedCrossRefGoogle Scholar
  8. 8.
    Haffner D, Cochat P, Otto G, Steffen H, Schärer K. When should isolated liver transplantation be performed in hyperoxaluria type 1? Follow-up report of two children. Nephrol. Dial. Transplant. 1995; 10: 47–52.PubMedGoogle Scholar
  9. 9.
    Cochat P, Faure JL, Divry P et al. Liver transplantation in primary hyperoxaluria type 1. Lancet 1989; 1:1142–1143.PubMedCrossRefGoogle Scholar
  10. 10.
    Watts RWE. Treatment of primary hyperoxaluria type 1. J. Nephrol. 1994; 7: 208–214.Google Scholar
  11. 11.
    Broyer M, Brunner FP, Brynger H et al. Kidney transplantation in primary oxalosis: data from the EDTA Registry. Nephrol. Dial. Transplant. 1990; 5: 332–336.PubMedGoogle Scholar
  12. 12.
    Scheinman JI, Alexander M, Campbell ED, Chan JC, Latta K, Cochat P. Transplantation for primary hyperoxaluria in the USA. Nephrol. Dial. Transplant. 1995; 10: 42–46.PubMedGoogle Scholar
  13. 13.
    Watts RWE, Mansell MA. Oxalate, livers, and kidneys. Combined renal and hepatic transplants transform the outlook in primary hyperoxaluria type 1. Br. J. Med. 1990; 301: 772–773.CrossRefGoogle Scholar
  14. 14.
    Danpure CJ, Jennings PR. Peroxisomal alanine: glyoxylate aminotransferase deficiency in primary hyperoxaluria type 1. FEBS Lett. 1986; 201: 20–24.PubMedCrossRefGoogle Scholar
  15. 15.
    Jamieson NV. PH1 Transplant Registry Report 1984–1997. Fourth Workshop on Primary Hyperoxaluria, Torino, 7–8 March 1997.Google Scholar
  16. 16.
    Michielsen P. Recurrence of the original disease. Does it influence graft failure? Kidney Int. 1995; 48(Suppl. 52): S79–S84.Google Scholar
  17. 17.
    Friedlander MM, Kopolovic J, Rubinger D et al. Renal biopsy in Fabry’s disease eight years after successful renal transplantation. Clin. Nephrol. 1987; 27: 206–211.Google Scholar
  18. 18.
    Mosnier JF, Degott C, Bedrossian J et al. Recurrence of Fabry’ s disease in a renal allograft eleven years after successful renal transplantation. Transplantation 1991; 51: 759–762.PubMedCrossRefGoogle Scholar
  19. 19.
    Montgomery R, Zibari G, Hill GS, Ratner LE. Renal transplantation in sickle cell nephropathy. Transplantation 1994; 58: 618–620.PubMedCrossRefGoogle Scholar
  20. 20.
    Horina JH, Wirnsberger G, Horn S et al. Long term follow-up of a patient with lecithin cholesterol acyltransferase deficiency syndrome after kidney transplantation. Transplantation 1993; 56: 233–236.PubMedCrossRefGoogle Scholar
  21. 21.
    Nunez DJ, Williams PF, Herrick AL, Evans DB, MacColl KEL. Renal transplantation for chronic renal failure in acute porphyria. Nephrol. Dial. Transplant. 1987; 2: 271–274.PubMedGoogle Scholar
  22. 22.
    Segoloni GP, Colla L, Messina M, Stratta P. Renal transplantation in a case of mannosidosis. Transplantation 96; 61: 1654–1655.Google Scholar
  23. 23.
    Ehrich JHH, Brodehl J, Byrd DI et al. Renal transplantation in 22 children with nephropathic cystinosis. Pediatr. Nephrol. 1991; 5: 708–714.PubMedCrossRefGoogle Scholar
  24. 24.
    Kashtan CE, McEnery PT, Tejani A, Stablein DM. Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol 1995; 9: 679–684.PubMedCrossRefGoogle Scholar
  25. 25.
    Almond PS, Matas A, Nakhleh RE et al. Renal transplantation for infantile cystinosis: long-term follow-up. J. Pediatr. Surg. 1993; 28: 232–238.PubMedCrossRefGoogle Scholar

Copyright information

© Kluwer Academic Publishers 1997

Authors and Affiliations

  • Pierre Cochat
  • Neville V. Jamieson
  • Laurence Dubourg
  • Janusz Feber
  • Paulo C. Koch Nogueira

There are no affiliations available

Personalised recommendations