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Órgano oficial de difusión de la Federación Mexicana de Patología Clínica, AC y de la Asociación Latinoamericana de Patología Clínica/Medicina de Laboratorio

2004, Number 2

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Rev Mex Patol Clin Med Lab 2004; 51 (2)

Cystinosis. Clinic submission in four brothers

Romo JE, Díaz-Rosales JD, Granados-Chávez J, Ortiz-Morales L, Barahona MP, Belmont-Martínez L

Language: Spanish
References: 57
Page: 63-69
PDF size: 117.76 Kb.


ABSTRACT

Cystinosis is little frequent a metabolic disease that causes accumulation of cistine in organic weaves and with it the crystal appearance of cystine in the cornea, conjunctive, bone marrow, lymphatic ganglia, leukocytes and organs like the kidney mainly. A series of cases of pediatrics patients appears brothers, who went to medical services to present/display general state badly, photophobia, disfagia, malnutrition, deformity in inferior members, undergrowth and intellectual deficit. The laboratory reported data of renal insufficiency; they also excel data of raquitism in the image studies. The renal biopsy demonstrated multinucleate cells and electronic microscopy confirms the existence of multinucleate cells being located in epithelial cells of the capillary to glomerular, as well as intracellular refringents crystal deposits in regions of the interstice and the glomerulo. I diagnose made for these patients was: Cystinosis Nephropathic. We concluded that all the patients who present/display data like the presented/displayed ones, is due to study to them of integral form and to suspect cystinosis or other metabolic upheavals.


REFERENCES

  1. Attard M, Jean G, Forestier L, Cherqui S, van’t Hoff W, Broyer M et al. Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin. Hum Molec Genet 1999; 8: 2507-2514.

  2. Bois E, Feingold J, Frenay P, Briard ML. Infantile cystinosis in France: Genetics, incidence, geographic distribution. J Med Genet 1976; 13: 434-438.

  3. Burke JR, El-Bishti MM, Maisey MN, Chantler C. Hyperthyroidism in children with cystinosis. Arch Dis Child 1978; 53: 947-951.

  4. da Silva VA, Zurbrugg RP, Lavanchy P, Blumberg A, Suter H, Wyss SR et al. Long-term treatment of infantile nephropathic cystinosis with cysteamine. New Engl J Med 1985; 313: 1460-1463.

  5. De Braekeleer M. Hereditary disorders in Saguenay-Lac-St-Jean (Quebec, Canada). Hum Hered 1991; 41: 141-146.

  6. Fivush B, Flick JA, Gahl WA. Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. J Pediat 1988; 112: 49-51.

  7. Fivush B, Green OC, Porter CC, Balfe JW, O’Regan S, Gahl WA. Pancreatic endocrine insufficiency in post-transplant cystinosis. Am J Dis Child 1987; 141: 1087-1089.

  8. Forestier L, Jean G, Attard M, Cherqui S, Lewis C, van’t Hoff W et al. Molecular characterization of CTNS deletions in nephropathic cystinosis: Development of a PCR-based detection assay. Am J Hum Genet 1999; 65: 353-359.

  9. Gahl WA. Personal communication. Bethesda, Md, 1997.

  10. Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Lysosomal cystine transport is defective in cystinosis. Science 1982; 217: 1263-1265.

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

  12. Gahl WA, Dalakas MC, Charnas L, Chen KTK, Pezeshkpour GH, Kuwabara T et al. Myopathy and cystine storage in muscles in a patient with nephropathic cystinosis. New Engl J Med 1988; 319: 1461-1464.

  13. Gahl WA, Hubbard S, Orloff S. Decreased sweat production in cystinosis. J Pediat 1984; 104: 904-905.

  14. Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI. Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops. Molec Genet Metab 2000; 71: 100-120.

  15. Gahl WA, Reed GG, Thoene JG, Schulman JD, Rizzo WB, Jonas AJ et al. Cysteamine therapy for children with nephropathic cystinosis. New Engl J Med 1987; 316: 971-977.

  16. Gahl WA, Thoene JG, Schneider JA. Cystinosis. New Engl J Med 2002; 347: 111-121.

  17. Gahl WA, Thoene JG, Schneider JA, O’Regan S, Kaiser-Kupfer MI, Kuwabara T. Cystinosis: progress in a prototypic disease. Ann Intern Med 1988; 109: 557-569.

  18. Hurley JK, Liu HM. Myxedema coma in cystinosis. (Letter) J Pediat 1977; 91: 341-342.

  19. Jean G, Fuchshuber A, Town MM, Gribouval O, Schneider JA, Broyer M et al. High-resolution mapping of the gene for cystinosis, using combined biochemical and linkage analysis. Am J Hum Genet 1996; 58: 535-543.

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

  21. Jonas AJ, Smith ML, Schneider JA. ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem 1982; 257: 13185-13188.

  22. Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Jain S, Gahl WA. Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. New Engl J Med 1987; 316: 775-779.

  23. Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA. Effects of early cysteamine therapy on thyroid function growth in nephropathic cystinosis. J Clin Endocr Metab 1995; 80: 3257-3261.

  24. Lucky AW, Howley PM, Megyesi K, Spielberg SP, Schulman JD. Endocrine studies in cystinosis: Compensated primary hypothyroidism. J Pediat 1977; 91: 204-210.

  25. Mahoney CP, Striker GE, Hickman RO, Manning GB, Marchioro TL. Renal transplantation for childhood cystinosis. New Engl J Med 1970; 283: 397-402.

  26. Malekzadeh MH, Nurstein HB, Schneider JA, Pennisi AJ, Ettenger RB, Uittenbogaart CH, Kogut MD, Fine RN. Cadaver renal transplantation in children with cystinosis. Am J Med 1977; 63: 525-533.

  27. Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. New Engl J Med 1993; 328: 1157-1162.

  28. McDowell GA. Personal communication. Bethesda, Md, 6/2/1995.

  29. McDowell GA, Gahl WA, Stephenson LA, Schneider JA, Weissenbach J, Polymeropoulos MH et al. Linkage of the gene for cystinosis to markers on the short arm of chromosome 17. Nature Genet 1995; 10: 246-248.

  30. McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P et al. Molecular analysis of cystinosis: Probable Irish origin of the most common French Canadian mutation. Europ J Hum Genet 1999; 7: 671-678.

  31. Patrick AD, Young EP, Mossman J, Warren R, Kearney L, Rodeck CH. First trimester diagnosis of cystinosis using intact chorionic villi. Prenatal Diag 1987; 7: 71-74.

  32. Pisoni RL, Lemons RM, Paelicke KM, Thoene JG. Description of a selection method highly cytotoxic for cystinotic fibroblasts but not normal human fibroblasts. Somat Cell Molec Genet 1992; 18: 1-6.

  33. Reiss RE, Kuwabara T, Smith ML, Gahl WA. Successful pregnancy despite placental cystine crystals in a woman with nephropathic cystinosis. New Engl J Med 1988; 319: 223-226.

  34. Schnaper HW, Cottel J, Merrill S, Marcusson E, Kissane JM, Shackelford GD et al. Early occurrence of end-stage renal disease in a patient with infantile nephropathic cystinosis. J Pediat 1992; 120: 575-578.

  35. Schneider JA. Therapy of cystinosis (Editorial). New Engl J Med 1985; 313: 1473-1474.

  36. Schneider JA, Bradley K, Seegmiller JE. Increased cystine in leukocytes from individuals homozygous and heterozygous for cystinosis. Science 1967; 157: 1321-1322.

  37. Schneider JA, Schulman JD, Seegmiller JE. Cystinosis and the Fanconi´s syndrome. In: Stanbury JB, Wyngaarden JB, Fredrickson DS. Metabolic basis of inherited disease. 4th ed. New York: McGraw-Hill, 1978; 1660-1682.

  38. Schneider JA, Verroust FM, Kroll WA, Garvin AJ, Horger EO III, Wong VG et al. Prenatal diagnosis of cystinosis. New Engl J Med 1974; 290: 878-882.

  39. Schulman JD. Cystinosis. Washington: US Government Printing Office, 1973.

  40. Schulman JD, Bradley KH. Cystinosis: Therapeutic implications of in vitro studies of cultured fibroblasts. J Pediat 1971; 78: 833-836.

  41. Schulman JD, Fujimoto WY, Bradley KH, Seegmiller JE. Identification of heterozygous genotype for cystinosis in utero by a new pulse-labeling technique: Preliminary report. J Pediat 1970; 77: 468-470.

  42. Sensenbrenner JA, Howell RR, Blizzard RM, Kenyon KR. Childhood cystinosis with hypothyroidism. Birth Defects Orig Art Ser 1974; 10 (4): 165-167.

  43. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I et al. CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet 1998; 63: 1352-1362.

  44. Smith ML, Pellett OL, Cass MMJ, Kennaway NG, Buist NRM, Buckmaster J et al. Prenatal diagnosis of cystinosis utilizing chorionic villus sampling. Prenatal Diag 1987; 7: 23-26.

  45. Smolin LA, Clark KF, Schneider JA. An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. Am J Hum Genet 1987; 41: 266-275.

  46. Sonies BC, Ekman EF, Andersson HC, Adamson MD, Kaler SG, Markello TC, Gahl WA. Swallowing dysfunction in nephropathic cystinosis. New Engl J Med 1990; 323: 565-570.

  47. Spear G, Slusser RJ, Tousimis AJ, Taylor CG, Schulman JD. Cystinosis: An ultrastructural and electron probe study of the kidney with unusual findings. Arch Path 1971; 21: 206-221.

  48. Steinherz R, Raiford D, Mittal KK, Schulman JD. Association of certain human leukocyte antigens with nephropathic cystinosis in the absence of linkage between these loci. Am J Hum Genet 1981; 33: 227-233.

  49. Steinherz R, Tietze F, Raiford D, Gahl WA, Schulman JD. Patterns of aminoacid efflux from isolated normal and cystinotic human leukocyte lysosomes. J Biol Chem 1982; 257: 6041-6049.

  50. Steinherz R, Tietze F, Triche T, Modesti A, Gahl WA, Schulman JD. Heterozygote detection in cystinosis, using leukocytes exposed to cystine dimethyl ester. New Engl J Med 1982; 306: 1468-1470.

  51. Teree TM, Friedman AB, Kent LM, Fetterman GH. Cystinosis and proximal tubular nephropathy in siblings: progressive development of the physiological and anatomical lesion. Am J Dis Child 1970; 119: 481-487.

  52. Touchman JW, Anikster Y, Dietrich NL, Maduro VVB, McDowell G, Shotelersuk V 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: 165-173.

  53. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA et al. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genet 1998; 18: 319-324.

  54. Weinberg T. Cystine storage disease: Report of a case. Am J Clin Path 1958; 29: 54-60.

  55. Williams BLH, Schneider JA, Trauner DA. Global intellectual deficits in cystinosis. Am J Med Genet 1994; 49: 83-87.

  56. Worthen HG, Good RA. The Toni-Fanconi´s syndrome with cystinosis: Clinical and metabolic study of two cases in a family and a critical review of the nature of the syndrome. Am J Dis Child 1960; 100: 653-688.

  57. Yudkoff M, Foreman JW, Segal S. Effects of cysteamine therapy in nephropathic cystinosis. New Engl J Med 1981; 304: 141-145.




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