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Cystinosis

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Inborn Metabolic Diseases

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Summary

Infantile cystinosis is a disease characterized by severe tubular Fanconi’s syndrome starting after several months of life, associated with a progressive alteration of kidney function leading to end-stage renal failure (ESRF) between 6 and 12 years of age. Other organs such as eyes, thyroid, liver, spleen, pancreas, and brain may be involved. The disease is related to a lysosomal accumulation of cystine without known enzyme defect. The only symptom of adult cystinosis, a different disease entity, is corneal deposits of cystine.

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References

  1. Tietze F, Bradley KH, Schulman JD (1972) Enzymatic reduction of cystine by subcellular fractions of cultured and peripheral leukocytes from normal and cystinotic individuals. Pediatr Res 6: 649

    Article  PubMed  CAS  Google Scholar 

  2. Gahl WA, Bashan N, Tietze F, et al. (1982) Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 217: 1263

    Article  PubMed  CAS  Google Scholar 

  3. Gahl WA, Tietze F, Bashan N, et al. (1983) Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich granular fractions. Biochem J 216: 393

    PubMed  CAS  Google Scholar 

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

    CAS  Google Scholar 

  5. Lemire J, Kaplan BS (1984) The various renal manifestations of the nephropathic form of cystinosis. Am J Nephrol 4: 81–85

    Article  PubMed  CAS  Google Scholar 

  6. Black J, Stapleton B, Roy S III, Ward J, Noe HN (1986) Varied types of urinary calculi in a patient with cystinosis without renal tubular acidosis. Pediatrics 78: 295–297

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  8. Broyer M (1989) On behalf of the EDTA registry committee. Kidney transplantation in children, data from the EDTA registry. Transplant Proc 21: 1985–1988

    PubMed  CAS  Google Scholar 

  9. Gahl WA, Kaiser-Kupfer MI (1987) Complications of nephropathic cystinosis after renal failure. Pediat Nephrol 1: 260–268

    Article  PubMed  CAS  Google Scholar 

  10. Gahl WA (1986) Cystinosis coming of age. Adv Pediatr 33: 95–126

    PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  12. Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M (1987) Ocular change in long term evolution of infantile cystinosis. Ophthalmic Paediatr Genet 8: 131–137

    Article  PubMed  CAS  Google Scholar 

  13. Chan A, Lynch M, Bailey JD, Ezrin C, Fraser D (1970) Hypothyroidism in cystinosis. Am J Med 48: 678–692

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  15. Bercu BB, Orloff S, Schulman JD (1980) Partial pituitary resistance to thyroid hormone in cystinosis. J Clin Endocrinol Metab 5: 1262

    Article  Google Scholar 

  16. Bakchine H, Niaudet P, Gagnadoux MF, Broyer M, Czernichow P (1984) Diabète induit par les corticosdes chez 6 enfants après transplantation rénale. Arch Fr Pediatr 41: 261–264

    PubMed  CAS  Google Scholar 

  17. Fiuusch B, Green OC, Porter GC, Balfe JW, O Regans S, Gahl WA (1987) Pancreatic endocrine insufficiency in post transplant cystinosis. Am J Dis Child 141: 1087–1089

    Google Scholar 

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

    Article  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

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

    Article  PubMed  CAS  Google Scholar 

  21. Goldman H, Scriver CR, Aaron K, Delvin E, Canlas Z (1971) Adolescent cystinosis: comparisons with infantile and adult forms. Pediatrics 47: 979–982

    PubMed  CAS  Google Scholar 

  22. Hauglustaine D, Corbeel L, Vandamme B, Serrus M, Michelsen P (1976) Glomerulonephritis in late onset cystinosis. Report of 2 cases and review of literature. Clin Nephrol 6: 529–535

    PubMed  CAS  Google Scholar 

  23. Cogan DG, Kuwabara T, Kinoshita J, Sheehan L, Merola L (1957) Cystinosis in an adult. JAMA 164: 394

    Article  CAS  Google Scholar 

  24. Brubaker RF, Wong VG, Schulman JD, Seegmiller JE, Kuwabara T (1970) Benign cystinosis. Am J Med 49: 546–550

    Article  PubMed  CAS  Google Scholar 

  25. 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

    Article  PubMed  CAS  Google Scholar 

  26. Smolin LA, Clark KF, Schneider JA (1987) An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocyte. Am J Hum Genet 41: 266–275

    PubMed  CAS  Google Scholar 

  27. Patrick AD, Young EP, Mossman J, Warren R, Kearney L, Rodeck CH (1987) First trimester diagnosis of cystinosis using intact chorionic villi. Prenat Diagn 7: 71–74

    Article  PubMed  CAS  Google Scholar 

  28. Betend B, David L, Vincent M, Hermier M, François R (1979) Successful indomethacin treatment of two paediatric patients with severe tubulopathy. He Iv Paediatr Acta 34: 339–344

    CAS  Google Scholar 

  29. Haycock GB, Al-Dahhan J, Mak RHK, Chantier C (1982) Effect of indomethacin on clinical progress and renal function in cystinosis. Arch Dis Child 57: 934–939

    Article  PubMed  CAS  Google Scholar 

  30. Guillot M, Broyer M, Cathelineau L, Boulegue D, Dartois AM, Folio D, Gimbaud P (1980) Nutrition entérale à débit constant en néphrologie pédiatrique. Resultats à long terme dans les néphroses congénitales, les cystinoses graves et les insuffisances rénales. Arch Fr Pediatr 37: 497–505

    Google Scholar 

  31. Gahl WA, Bernardini I, Dalakas M, Rizzo UB, Harper GP, Hoeg JM, Hurko O, Bemar J (1988) Oral carnitine therapy in children with cystinosis and renal Fanconi syndrome. J Clin Invest 81: 549–560

    Article  PubMed  CAS  Google Scholar 

  32. Kaiser-Kupfer M, Datiles MB, Gahl WA (1987) Corneal transplant in boy with nephropathic cystinosis. Lancet 1: 331

    Article  PubMed  CAS  Google Scholar 

  33. Katz B, Melles RB, Schneider J (1987) Recurrent crystal deposition after keratoplasty in nephropathic cystinosis. Am J Ophthalmol 104: 190–191

    PubMed  CAS  Google Scholar 

  34. Kaiser-Kupfer M, Fujikawal L, Kuwabara T, Fain S, Gahl WA (1987) Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. N Engl J Med 316: 775–779

    Article  PubMed  CAS  Google Scholar 

  35. Gahl WA, Reed G, 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

    Article  PubMed  CAS  Google Scholar 

  36. Da Silva VA, Zurbrüg RP, Lavanchu 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

    Article  PubMed  Google Scholar 

  37. 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 leukocyte free cystine in nephropathic cystinosis. Pediatr Res 23: 616–620

    Article  PubMed  CAS  Google Scholar 

  38. Pellet OL, Smith ML, Greene AA, Schneider JA (1988) Lack of complementation in somatic cell hybrids between fibroblasts from patients with different forms of cystinosis. Proc Natl Acad Sci USA 85: 3531–3534

    Article  Google Scholar 

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Authors
  1. M. Broyer
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Editor information

Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

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© 1990 Springer-Verlag Berlin Heidelberg

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Broyer, M. (1990). Cystinosis. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_20

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  • DOI: https://doi.org/10.1007/978-3-662-02613-7_20

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02615-1

  • Online ISBN: 978-3-662-02613-7

  • eBook Packages: Springer Book Archive

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