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Renal transplantation in 22 children with nephropathic cystinosis

Pediatric Nephrology volume 5, pages 708–714 (1991)Cite this article

Abstract

In 1989, 22 children (11 boys, 11 girls aged 8–23 years) with nephropathic cystinosis, who had received a total of 28 renal allografts over the previous 14 years, were reviewed. Nineteen were alive, of whom 17 had functioning grafts 5 months to 13 years after transplantation. The mean serum creatinine level in these 17 was 135 μmol/l. Patient and graft survival did not differ from non-cystinotic children. Persistent hypothyroidism was found in 3 patients, transient diabetes mellitus in 1, severely disturbed vision in 1 and brain atrophy in 11. Arterial hypertension was present in 16 patients. Growth retardation was universal, although in 4 patients on cyclosporin A post-transplant catch-up growth occurred. Five patients over 15 years completed puberty. Readjustment in terms of school performance was good but was less good for psychosocial development. None of the patients had ever been treated with cystine-depleting agents; the data will therefore provide a historical control group with which to compare the results from a group treated with these agents.

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References

  1. Adamson MD, Anderson HC, Gahl WA (1989) Cystinosis. Semin Nephrol 9: 147–161

    PubMed  Google Scholar 

  2. Broyer M, Guillot M, Gubler MC, Habib R (1981) Infantile cystinosis: a reappraisal of early and late symptoms. Adv Nephrol 10: 137–166

    Google Scholar 

  3. Gahl WA, Schneider JA, Thoene JG, Chesney R (1986) Course of nephropathic cystinosis after age 10 years. J Pediatr 109: 605–608

    PubMed  Google Scholar 

  4. Gretz N, Manz F, Augustin R, Barrat TM, Bender-Götze C, Brandis M, Bremer HJ, Brodehl J, Broyer M, Bulla M, Callis L, Chantler C, Diekmann L, Dillon MJ, Egli F, Ehrich JHH, Endres W, Fanconi A, Feldhoff C, Geisert J, Gekle D, Geschöll-Bauer B, Grote K, Grüttner R, Hagge W, Haycock CB, Hennemann H, Klare B, Leupold D, Löhr H, Michalk D, Oliveira A, Ott F, Pistor K, Rau J, Schärer K, Schindera F, Schmidt H, Schulte-Wissermann H, Verrier-Jones K, Weber HP, Willenbockel U, Wolf H, et al. (1982) Survival time in cystinosis. A collaborative study. Proc Eur Dial Transplant Assoc 19: 582–588

    Google Scholar 

  5. Malekzadch MH, Neustein HB, Schneider JA, Pennisi AJ, Ettenger RB, Uittenbogaart CH, Kogut MD, Fine RN (1977) Cadaver renal transplantation in children with cystinosis. Am J Med 63: 525–533

    PubMed  Google Scholar 

  6. Broyer M, Donckerwolcke RA, Brunner FD, Brynger H, Jacobs C, Kramer P, Selwood NH, Wing AJ, Blake PH (1981) Combined report on regular dialysis and transplantation of children in Europe 1980. Proc Eur Dial Transplant Assoc 18: 60–87

    PubMed  Google Scholar 

  7. Brodehl J, Ehrich JHH, Krohn HP, Offner G, Byrd D (1984) Cystinosis: kidney transplantation in nephropathic cystinosis. In: Brodehl J, Ehrich JHH (eds) Paediatric Nephrology. Springer, Berlin Heidelberg New York, pp 172–178

    Google Scholar 

  8. Nissenson AR, Port FK (1989) Outcome of end-stage renal disease in patients with rare causes of renal failure. I. Inherited and metabolic disorders. Q J Med 73: 1055–1062

    PubMed  Google Scholar 

  9. Broyer M, Tete MJ, Gubler MC (1987) Late symptoms in infantile cystinosis. Pediatr Nephrol 1: 519–524

    PubMed  Google Scholar 

  10. Gahl WA, Kaiser-Kupfer MJ (1987) Complications of nephropathic cystinosis after renal failure. Pediatr Nephrol 1: 260–268

    PubMed  Google Scholar 

  11. Bercu BB, Orloff S, Schulman JD (1980) Pituitary resistance to thyroid hormone in cystinosis. J Clin Endocrinol Metab 51: 1262–1264

    PubMed  Google Scholar 

  12. Burke JR, El-Bishti MM, Maisey MN, Chantler C (1978) Hypothyroidism in children with cystinosis. Arch Dis Child 53: 947–951

    PubMed  Google Scholar 

  13. Ammenti A, Grossi A, Bernasconi S (1986) Infantile cystinosis and insulin-dependent diabetes mellitus. Eur J Pediatr 145: 548–549

    PubMed  Google Scholar 

  14. Fivush B, Green OC, Porter CC, Balfe JW, O'Regan S, Gahl WA (1987) Pancreatic endocrine insufficiency in posttransplant cystinosis. Am J Dis Child 141: 1087–1089

    PubMed  Google Scholar 

  15. Fivush B, Flick J, Gahl WA (1988) Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. J Pediatr 112: 49–51

    PubMed  Google Scholar 

  16. Ehrich JHH, Stoeppler L, Offner G, Brodehl J (1979) Evidence for cerebral involvement in nephropathic cystinosis. Neuropädiatrie 10: 128–137

    Google Scholar 

  17. Cochat P, Drachman R, Gagnadoux MF, Pariente D, Broyer M (1986) Cerebral atrophy and nephropathic cystinosis. Arch Dis Child 61: 401–403

    PubMed  Google Scholar 

  18. Jonas AJ, Couley SB, Marshall R, Johnson RA, Marks M, Rosenberg H (1987) Nephropathic cystinosis with central nervous system involvement. Am J Med 83: 966–970

    PubMed  Google Scholar 

  19. Levine S, Paparo G (1982) Brain lesions in a case of cystinosis. Acta Neuropathol (Berl) 57: 217–220

    Google Scholar 

  20. Ross DL, Strife CF, Towbin R, Bove KE (1982) Nonabsorptive hydrocephalus associated with nephropathic cystinosis. Neurology 32: 1330–1334

    PubMed  Google Scholar 

  21. Wöckel W, Meerbach W, Rüdiger D (1971) Zystinose mit Beteiligung des ZNS und der Muskulatur. Zbl Allg Pathol 114: 493–498

    Google Scholar 

  22. Kaiser-Kupfer MJ, Caruso RC, Minkler DS, Gahl WA (1986) Longterm ocular manifestations in nephropathic cystinosis. Arch Ophthalmol 104: 706–711

    PubMed  Google Scholar 

  23. Leipert KL, Morche F, Ehrich JHH (1987) Infantile nephropathische Zystinose: Elektroophthalmologische Befunde bei nierentransplantierten Patienten und deren Müttern. Fortschr Ophthalmol 84: 287–290

    PubMed  Google Scholar 

  24. Gahl WA, Dalakas MC, Charnas L, Chen KTK, Pezeshkpour GH, Kuwabara T, Davis SL, Chesney RW, Fink J, Hutchison HT (1988) Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl J Med 319: 1461–1464

    PubMed  Google Scholar 

  25. Schneider JA, Schulman JD, Thoene JG (1981) Cysteamine therapy in nephropathic cystinosis. N Engl J Med 304: 1171–1172

    Google Scholar 

  26. Gahl WA, Reed GF, Thoene JG, Schulman FD, Rizoo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corder JA (1987) Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 316: 971–977

    PubMed  Google Scholar 

  27. Schneider JA (1985) Therapy of cystinosis. N Engl J Med 313: 1473–1474

    PubMed  Google Scholar 

  28. Proesmans W, Baten E, Hoogmartens J, Bruynel P (1987) Nephropathic cystinosis: effect of long term cysteamine therapy. Clin Nephrol 27: 309–312

    PubMed  Google Scholar 

  29. Hoyer PF, Offner G, Brodehl J (1983) Acute rejection episodes after renal transplantation in children. Clin Nephrol 19: 61–66

    PubMed  Google Scholar 

  30. Offner G, Hoyer PF, Brodehl J, Pichlmayr R (1987) Cyclosporin A in paediatric kidney transplantation. Pediatr Nephrol 1: 125–130

    PubMed  Google Scholar 

  31. Elsheikh M, Doehring-Schwerdtfeger E, Kaiser C, Ibrahim MA, Ghorash MA, Franke D, Porrath K, Kardorff R, Ehrich JHH (1989) Renal function in Sudanese school children withSchistosoma mansoni infection. Pediatr Nephrol 3: 259–264

    PubMed  Google Scholar 

  32. Wolff G, Ehrich JHH, Offner G, Brodehl J (1982) Psychosocial and intellectual development in 12 patients with nephropathic cystinosis. Acta Paediatr Scand 71: 1007–1011

    PubMed  Google Scholar 

  33. Rizzoni G, Broyer M, Brunner FP, Brynger H, Challah S, Fassbinder W, Oules R, Selwood NH, Wing AJ (1984) Combined report on regular dialysis and transplantation of children in Europe. Proc Eur Dial Transplant Assoc 21: 55–80

    Google Scholar 

  34. Spear GS, Gubler MC, Habib R, Broyer M (1989) Renal allografts in cystinosis and mesangial demography. Clin Nephrol 32: 256–261

    PubMed  Google Scholar 

  35. Koch VH, Lippe BM, Nelson PA, Boechat MI, Sherman BM, Fine RN (1989) Accelerated growth after recombinant human growth hormone treatment of children with chronic renal failure. J Pediatr 115: 365–371

    PubMed  Google Scholar 

  36. Lucky AW, Howley PM, Megyesi K, Spielberg SP, Schulman JD (1977) Endocrine studies in cystinosis: compensated primary hypothyroidism. J Pediatr 91: 204–210

    PubMed  Google Scholar 

  37. Reiss RE, Kuwabara T, Smith ML, Gahl WA (1988) Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. N Engl J Med 319: 223–226

    PubMed  Google Scholar 

  38. Dufier JL, Orssaud D, Dhermy P, Gubler MC, Gagnadoux MF, Kleinknecht C, Broyer M (1987) Ocular changes in some progressive hereditary nephropathies. Pediatr Nephrol 1: 525–530

    PubMed  Google Scholar 

  39. Broyer M, Guest G, Gagnadoux MF, Beurton D (1987) Hypertension following renal transplantation in children. Pediatr Nephrol 1: 16–21

    PubMed  Google Scholar 

  40. Gordjani N, Offner G, Hoyer PF, Brodehl J (1990) Hypertension following renal transplantation under treatment with ciclosporin A and azathioprine. Arch Dis Child 65: 275–279

    PubMed  Google Scholar 

  41. Cifuentes E, Gill FM, Roth K (1977) Evaluation of anemia in cystinosis. Pediatr Res 11: 454

    Google Scholar 

  42. Smolin LA, Clark KF, Thoene JG, Gahl WA, Schneider JA (1988) A comparison of the effectiveness of cysteamine and phosphocysteamine in elevating plasma cysteamine concentration and decreasing leucocyte free cystine in nephropathic cystinosis. Pediatr Res 23: 616–620

    PubMed  Google Scholar 

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Affiliations

  1. Kinderklinik, Abteilung Pädiatrische Nieren- und Stoffwechselkrankheiten, Medizinische Hochschule, Konstanty-Gutschow-Strasse 8, W-3000, Hannover 61, Federal Republic of Germany

    Jochen H. H. Ehrich, Johannes Brodehl, Dennis I. Byrd, Susanne Hossfeld, Peter F. Hoyer, Gisela Offner & Georg Wolff

  2. Physiologische Abteilung, Max-Planck-Institut für physiologische und klinische Forschung, Bad Nauheim, Federal Republic of Germany

    Klaus-Peter Leipert

Authors
  1. Jochen H. H. Ehrich
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  2. Johannes Brodehl
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  3. Dennis I. Byrd
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  4. Susanne Hossfeld
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  5. Peter F. Hoyer
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  6. Klaus-Peter Leipert
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  7. Gisela Offner
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  8. Georg Wolff
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Ehrich, J.H.H., Brodehl, J., Byrd, D.I. et al. Renal transplantation in 22 children with nephropathic cystinosis. Pediatr Nephrol 5, 708–714 (1991). https://doi.org/10.1007/BF00857880

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  • DOI: https://doi.org/10.1007/BF00857880

Key words

  • Nephropathic cystinosis
  • Renal transplantation