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Review

Pharmacological treatment of nephropathic cystinosis with cysteamine

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Pages 2255-2262 | Published online: 25 Feb 2005

Bibliography

  • GAHL WA, BASHAN N, TIETZE F, BERNARDINI I, SCHULMAN JD: Lysosomal cystine transport is defective in cystinosis. Science (1982) 217(4566):1263–1265.
  • TOWN M, JEAN G, CHERQUI S et al: A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat. Genet. (1998) 18(4):319–324.
  • GAHL WA, THOENE J, SCHNEIDER JA: Cystinosis: a disorder of lysosomal membrane transport. In: The Metabolic & Molecular Bases of Inherited Disease (Volume III). Scriver CR, Beaudet AL, Valle D, Sly WS (Eds), 8th edn, McGraw-Hill, New York, USA (2001):5085–5108.
  • ••A comprehensive review of cystinosis.
  • GAHL WA, THOENE JG, SCHNEIDER JA: Cystinosis. N Engl. Med. (2002) 347(2):111–121.
  • ••A thorough clinical discussion ofcystinosis.
  • THE CYSTINOSIS COLLABORATIVE RESEARCH GROUP: Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nat. Genet. (1995) 10(2):246–248.
  • SHOTELERSUK V, LARSON D, ANIKSTER Y et al.: CTNS mutations in an American-based population of cystinosis patients. Am..): Hum. Genet. (1998) 63(5):1352–1362.
  • ANIKSTER Y, LUCERO C, TOUCHMAN JW et al.: Identification and detection of the common 65-kb deletion breakpoint in the nephropathic cystinosis gene (CTNS). Ma Genet. Metab. (1999) 66(2):111–116.
  • FORESTIER L, JEAN G, ATTARD M et al.: Molecular characterization of CTNS deletions in nephropathic cystinosis: development of a PCR-based detection assay. Am. J. Hum. Genet. (1999) 65(2):353–359.
  • TOUCHMAN JW, ANIKSTER Y, DIETRICH NL et al.: The genomic region encompassing the nephropathic cystinosis gene (CTNS): complete sequencing of a 200-kb segment and discovery of a novel gene within the common cystinosis-causing deletion. Genome Res. (2000) 10(2):165–173.
  • ANIKSTER Y, LUCERO C, GUO J et al.: Ocular nonnephropathic cystinosis: clinical, biochemical, and molecular correlations. Pediatr. Res. (2000) 47(1):17–23.
  • GRETZ N, MANZ F, AUGUSTIN R et al.: Survival time in cystinosis. A collaborative study. Proc. Eur. Dial. Transplant. Assoc. (1983) 19:582–589.
  • THEODOROPOULOS DS, KRASNEWICH D, KAISERKUPFER MI, GAHL WA: Classical nephropathic cystinosis as an adult disease. JAMA (1993) 270(18):2200–2204.
  • GAHL WA, DALAKAS MC, CHARNAS L et al: Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. N Engl. I Med. (1988) 319(22):1461–1464.
  • CHARNAS LR, LUCIANO CA, DALAKAS M et al.: Distal vacuolar myopathy in nephropathic cystinosis. Ann. Neurol (1994) 35(2):181–188.
  • SONIES BC, EKMAN EF, ANDERSSON HC et al: Swallowing dysfunction in nephropathic cystinosis. N. Engl. J. Med. (1990) 323(9):565–570.
  • KAISER-KUPFER MI, CARUSO RC, MINKLER DS, GAHL WA: Long-term ocular manifestations in nephropathic cystinosis. Arch. Ophthalmol (1986) 104(5):706–711.
  • FIVUSH B, GREEN OC, PORTER CC, BALFE JW, O'REGAN S, GAHL WA: Pancreatic endocrine insufficiency in posttransplant cystinosis. Am. Dis. Child. (1987) 141(10):1087–1089.
  • FIVUSH B, FLICK JA, GAHL WA: Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. Pediatr. (1988) 112(1):49–51.
  • ANIKSTER Y, LACBAWAN F, BRANTLY M et al.: Pulmonary dysfunction in adults with nephropathic cystinosis. Chest (2001) 119(2):394–401.
  • CHIK CL, FRIEDMAN A, MERRIAM GR, GAHL WA: Pituitary-testicular function in nephropathic cystinosis. Ann. Intern. Med. (1993) 119(7 Pt 1):568–575.
  • EHRICH JH, STOEPPLER L, OFFNER G, BRODEHL J: Evidence for cerebral involvement in nephropathic cystinosis. Neuropadiatrie (1979) 10(2):128–137.
  • FINK JK, BROUWERS P, BARTON N et al.: Neurologic complications in long-standing nephropathic cystinosis. Arch. Neurol (1989) 46(5):543–548.
  • GAHL WA, TIETZE F, BUTLER JD, SCHULMAN JD: Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange. Biochem. J. (1985) 228(3):545–550.
  • PISONI RL, THOENE JG, CHRISTENSEN HN: Detection and characterization of carrier-mediated cationic amino acid transport in lysosomes of normal and cystinotic human fibroblasts. Biol. Chem. (1985) 260(8):4791–4798.
  • THOENE JG, OSHIMA RG, CRAWHALL JC, OLSON DL, SCHNEIDER JA: Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. I Clin. Invest. (1976) 58(1):180–189.
  • GAHL WA, REED GF, THOENE JG et al.: Cysteamine therapy for children with nephropathic cystinosis. N Engl. I Med. (1987) 316(16):971–977.
  • MARKELLO TC, BERNARDINI IM, GAHL WA: Improved renal function in children with cystinosis treated with cysteamine. N Engl. J. Med. (1993) 328(16):1157–1162.
  • KIMONIS VE, TROENDLE J, YANG ML et al.: Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. I Clin. Endocrinol Metab. (1995) 80(11):3257–3261.
  • KAISER-KUPFER MI, FUJIKAWA L, KUWABARA T, GAHL WA: Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. N Engl. I Med. (1987) 316(13):775–779.
  • KAISER-KUPFER MI, GAZZO MA, DATILES MB et al.: A randomized placebo-controlled trial of cysteamine eyedrops in nephropathic cystinosis. Arch. Ophthalmol (1990) 108(5):689–693.
  • GAHL WA, KUEHL EM, NVATA F, LINDBLAD A, KAISER-KUPFER MI: Corneal crystals in nephropathic cystinosis: natural history and treatment with cysteamine eyedrops. Ma Genet. Metab. (2000) 71(1-2):100–120.
  • GAHL WA: Early oral cysteamine therapyfor nephropathic cystinosis. Eur: I Pediatr. (2003) 162\(Suppl. 1):538–541.
  • KLETA R, BERNARDINI I, UEDA M et al.: Long-term follow-up of well-treated nephropathic cystinosis patients. (2004) Pediatr. (In Press).
  • •A case report documenting the benefit of diligent treatment with cysteamine.
  • SMOLIN LA, CLARK KF, SCHNEIDER JA: An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. Am. Hum. Genet. (1987) 41(2):266–275.
  • SMITH ML, PELLETT OL, CASS MM et al.: Prenatal diagnosis of cystinosis utilizing chorionic villus sampling. Prenat. Diagn. (1987) 7(1):23–26.
  • BENDAVID C, KLETA R, LONG R et al.: FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Human Genet. (2004) (In Press).
  • CHERQUI S, SEVIN C, HAMARD G et al.: Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Ma Cell. Biol. (2002) 22(21):7622–7632.
  • PARK M, HELIP-WOOLEY A, THOENE J: Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J. Am. Soc. Nephrol (2002) 13(12):2878–2887.
  • YUDKOFF M, FOREMAN JW, SEGAL S: Effects of cysteamine therapy in nephropathic cystinosis. N Engl. I Med. (1981) 304(3):141–145.
  • GAHL WA, THOENE JG, SCHNEIDER JA et al: NIH conference. Cystinosis: progress in a prototypic disease. Ann. Intern. Med. (1988) 109(7):557–569.
  • GAHL WA, CHARNAS L, MARKELLO TC et al.: Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem. Med. Metab. Biol. (1992) 48(3):275–285.
  • DA SILVA VA, ZURBRUGG RP, LAVANCHY P et al.: Long-term treatment of infantile nephropathic cystinosis with cysteamine. N Engl. I Med. (1985) 313(23):1460–1463.
  • VANT HOFF WG, GRETZ N: The treatment of cystinosis with cysteamine and phosphocysteamine in the United Kingdom and Eire. Pediatr. Nephrol (1995) 9(6):685–689.
  • NIAUDET P, TETE MJ, BROYER M: Renal disease in cystinosis. In: Cystinosis. Broyer M (Ed.), Elsevier, Paris, France (1999):36–41.
  • PROESMANS W, BATEN E, HOOGMARTENS J, BRUYNEEL P: Nephropathic cystinosis: effect of long-term cysteamine therapy. Clin. Nephrol. (1987) 27(6):309–312.
  • SCHNEIDER JA: Treatment of cystinosis: Simple in principle, difficult in practice. (2004) Pediatr. (In Press).
  • Cysteamine for cystinosis. Med. Lett. Drugs The]: (1994) 36(938):118.
  • SCHNEIDER JA: Approval of cysteamine for patients with cystinosis. Pediatr. Nephrol. (1995) 9(2):254.
  • KLETA R, GAHL WA: Cystinosis: antibodies and healthy bodies. Am. Soc. Nephrol. (2002) 13(8):2189–2191.
  • SKOVBY F, KLETA R, ANIKSTER Y, CHRISTENSEN R, GAHL WA: Cystinosis in Denmark: Mutation analysis and treatment with cystamine, the disulfide of cysteamine. Am.,/ Hum. Genet. (2002) 71(4):5413 (Abstract).
  • IWATA F, KUEHL EM, REED GF et al: A randomized clinical trial of topical cysteamine disulfide (cystamine) versus free thiol (cysteamine) in the treatment of corneal cystine crystals in cystinosis. Mol Genet. Metal,. (1998) 64(4):237–242.
  • TSILOU ET, THOMPSON D, LINDBLAD AS et al: A multicentre randomised double masked clinical trial of a new formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis. Br. J. Ophthalmol. (2003) 87(1):28–31.
  • TENNEZE L, DAURAT V, TIBI A, CHAUMET-RIFFAUD P, FUNCK-BRENTANO C: A study of the relative bioavailabifity of cysteamine hydrochloride, cysteamine bitartrate and phosphocysteamine in healthy adult male volunteers. Br: J. Clin. Pharmacol (1999) 47(1):49–52.
  • BELLDINA EB, HUANG MY, SCHNEIDER JA, BRUNDAGE RC, TRACY TS: Steady-state pharmacokinetics and pharmacodynamics of cysteamine bitartrate in paediatric nephropathic cystinosis patients. Br. J. Clin. Pharmacol (2003) 56(5):520–525.
  • WENNER WJ, MURPHY JL: The effects of cysteamine on the upper gastrointestinal tract of children with cystinosis. Pediatr. Nephrol (1997) 11(5):600–603.
  • DOHIL R, NEWBURY RO, SELLERS ZM, DEUTSCH R, SCHNEIDER JA: The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine. Pediatr. (2003) 143(2):224–230.
  • CORDEN BJ, SCHULMAN JD, SCHNEIDER JA, THOENE JG: Adverse reactions to oral cysteamine use in nephropathic cystinosis. Dev. Pharmacol Ther: (1981) 3(1):25–30.
  • BECKMAN DA, MULLIN JJ, ASSADI FK: Developmental toxicity of cysteamine in the rat: effects on embryo-fetal development. Teratology (1998) 58(3-4):96–102.
  • SOOHOO N, SCHNEIDER JA, KAPLAN RM: A cost-effectiveness analysis of the orphan drug cysteamine in the treatment of infantile cystinosis. Med. Decis. Making (1997) 17(2):193–198.
  • MEWISSEN DJ, BRUCER M: Late effects of gamma radiation on mice protected with cysteamine or cystamine. Nature (1957) 179(4552):201–202.
  • RAY-CHAUDHURI SP, CHAUDHURI JP, CHATTERJEE S: Cysteamine protection of grasshopper chromosomes from X-ray-induced aberrations under aerobic and anaerobic conditions. Int. .1. Radial-. Biol. (1962) 5(6):591–595.
  • OSHIMA RG, WILLIS RC, FURLONG CE, SCHNEIDER JA: Binding assays for amino acids. The utilization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples. J. Biol. Chem. (1974) 249(19):6033–6039.
  • KLETA R, ANIKSTER Y, LUCERO C et al.: CTNS mutations in African American patients with cystinosis. Ma Genet. Metal,. (2001) 74(3):332–337.
  • WINBERG J: The 24-hour true endogenous creatinine clearance in infants and children without renal disease. Acta Paediatr. (1959) 48:443–452.

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