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Complications of nephropathic cystinosis after renal failure

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Abstract

Fifteen patients with nephropathic cystinosis, ranging in age from 13 to 27 years, were studied. Two were in renal failure; 13 had functioning renal allografts; 5 had severe, uncorrectable loss of visual acuity as well as posterior synechiae and crystal deposits on the lens surface. All 15 patients had photophobia and corneal erosions to variable degress. All patients were growth retarded with delayed bone ages. Puberty occurred late, but was generally complete by 17 years of age. Hepatic function appeared normal. Only 1 patient had neurological deterioration, but 11 patients had some degree of cerebral atrophy radiologically. The continued accumulation of cystine within cystinotic tissues results in serious extrarenal complications many years after renal transplantation in cystinosis.

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References

  1. Schneider JA, Schulman JD (1983) Cystinosis. In: Stanbury JB, Wyngaarden JB, Fredrickson DS, Goldstein JL, Brown MS (eds) The metabolic basis of inherited disease, 5th edn. McGraw-Hill, New York, pp 1844–1866

    Google Scholar 

  2. Gahl WA (1986) Cystinosis. Adv Pediatr 33:95–126

    PubMed  Google Scholar 

  3. Gretz N, Manz F, Augustin R (1982) Survival time in cystinosis: a collaborative study. Proc Eur Dial Transplant Assoc 19:582–589

    Google Scholar 

  4. Langlois RP, O'Regan S, Pelletier M, Robitaille P (1981) Kidney transplantation in uremic children with cystinosis. Nephron 28:273–275

    PubMed  Google Scholar 

  5. Broyer M, Guillot M, Gubler MC, Habib R (1981) Infantile cystinosis: a reappraisal of early and late symptoms. In: Hamburger J, Crosnier J, Grunfeld JP, Maxwell MH (eds) Advances in nephrology. Year Book, Chicago, pp 137–166

    Google Scholar 

  6. 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 

  7. Thoene JG, Oshima RG, Crawhill JC, Olson DL, Schneider JA (1976) Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest 58:180–189

    PubMed  Google Scholar 

  8. Gahl WA, Reed GF, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ, Denman DW, Schlesselman JJ, Corden BJ, Schneider JA (1987) Cysteamine therapy for children with nephropathic cystinosis. N Engl J Med 316:971–977

    PubMed  Google Scholar 

  9. Kaiser-Kupfer MI, Caruso RC, Minckler DS, Gahl WA (1986) Long-term ocular manifestations in nephropathic cystinosis. Arch Ophthalmol 104:706–711

    PubMed  Google Scholar 

  10. Gahl WA, Bashan N, Tietze F, Schulman JD (1984) Lysosomal cystine counter-transport in heterozygotes for cystinosis. Am J Hum Genet 36:277–282

    PubMed  Google Scholar 

  11. Schneider JA, Wong V, Bradley K, Seegmiller JE (1968) Biochemical comparisons of the adult and childhood forms of cystinosis. N Engl J Med 279:1253–1257

    PubMed  Google Scholar 

  12. Bernardini I, Rizzo WB, Dalakas M, Bernar J, Gahl WA (1985) Plasma and muscle free carnitine deficiency due to renal Fanconi syndrome. J Clin Invest 75:1124–1130

    PubMed  Google Scholar 

  13. Bohmer T, Bergrem H, Eiklid K (1978) Carnitine deficiency induced during intermittent haemodialysis for renal failure. Lancet I:126–128

    Google Scholar 

  14. Gahl WA, Tietze F, Bashan N, Steinherz R, Schulman JD (1982) Defective cystine exodus from isolated lysosomerich fractions of cystinotic leucocytes. J Biol Chem 257: 9570–9575

    PubMed  Google Scholar 

  15. Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD (1982) Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217: 1263–1265

    PubMed  Google Scholar 

  16. Gahl WA, Tietze F, Bashan N, Bernardini I, Raiford D, Schulman JD (1983) Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions. Biochem J 216:393–400

    PubMed  Google Scholar 

  17. Gahl WA, Tietze F, Butler JDeB, Schulman JD (1985) Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange. Biochem J 228:545–550

    PubMed  Google Scholar 

  18. Pisoni, RL, Thoene JG, Christensen HN (1985) Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. J Biol Chem 260:4791–4798

    PubMed  Google Scholar 

  19. Wong V (1976) Ocular manifestations in cystinosis. Birth Defects 12:181–186

    Google Scholar 

  20. Yamamoto GK, Schulman JD, Schneider J (1979) Long-term ocular changes in cystinosis: Observations in renal transplant recipients. J Pediatr Ophthalmol Strabismus 16:21–25

    PubMed  Google Scholar 

  21. Sanderson PO, Kuwabara T, Stark WI, Wong VG, Collins EM (1974) Cystinosis: a clinical, histopathologic and ultrastructural study. Arch Ophthalmol 91:270–274

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

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

    PubMed  Google Scholar 

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

    Google Scholar 

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

    Google Scholar 

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

    PubMed  Google Scholar 

  28. Schnaper HW, Cole BR, Hodges FJ, Robson AM (1983) Cerebral cortical atrophy in pediatric patients with end-state renal disease. Am J Kidney Dis 2:645–650

    PubMed  Google Scholar 

  29. Avner ED, Ellis D, Jaffe R (1983) Veno-occlusive disease of the liver associated with cysteamine treatment of nephropathic cystinosis. J Pediatr 102:793–796

    PubMed  Google Scholar 

  30. Gahl WA, Schulman JD, Thoene JG, Schneider J (1983) Hepatotoxicity of cysteamine? J Pediatr 103:1008–1009

    Google Scholar 

  31. Da Silva VA, Zurbrugg RP, Lavanchy P, Blumberg A, Suter H, Wyss SR, Luthy CM, Oetliker OH (1985) Long-term treatment of infantile nephropathic cystinosis with cysteamine. N Engl J Med 313:1460–1463

    PubMed  Google Scholar 

  32. Corden BJ, Schulman JD, Schneider JA, Thoene JG (1981) Adverse reactions to oral cysteamine use in nephropathic cystinosis. Dev Pharmacol Ther 3:25–30

    PubMed  Google Scholar 

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Authors and Affiliations

  1. Section on Human Biochemical Genetics, Human Genetics Branch, National Institute of Child Health and Human Development, NICHD, National Institute of Health, Building 10, Room 10N-318, 9000 Rockville Pike, 20892, Bethesda, MD, USA

    William A. Gahl

  2. Clinical Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA

    Muriel I. Kaiser-Kupfer

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  1. William A. Gahl
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  2. Muriel I. Kaiser-Kupfer
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Gahl, W.A., Kaiser-Kupfer, M.I. Complications of nephropathic cystinosis after renal failure. Pediatr Nephrol 1, 260–268 (1987). https://doi.org/10.1007/BF00849221

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  • DOI: https://doi.org/10.1007/BF00849221

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