Nephropathic cystinosis: Late complications of a multisystemic disease

Pediatric Nephrology

Volumn 23, Issue 6, 2008, Pages 863-878

  Nesterova, Galina ^a   Gahl, William ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Complications; Cystinosis; Lysosomal storage; Nephropathic; Transport

Indexed keywords

CYSTINE; CYSTINOSIN; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR; GROWTH HORMONE; INSULIN; MEMBRANE PROTEIN; MERCAPTAMINE; PANCREAS ENZYME; PROTON PUMP INHIBITOR; TESTOSTERONE; THYROXINE;

AMINO ACID TRANSPORT; AUTOSOMAL RECESSIVE DISORDER; BLOOD ANALYSIS; BONE DISEASE; BRAIN ATROPHY; CARDIOVASCULAR DISEASE; CLINICAL EXAMINATION; CLINICAL FEATURE; CYSTINOSIS; DEATH; DEHYDRATION; DIABETES MELLITUS; DISEASE COURSE; ELECTROLYTE DISTURBANCE; ENDOCRINE DISEASE; EYE DISEASE; FAMILY HISTORY; FANCONI RENOTUBULAR SYNDROME; GASTROINTESTINAL SYMPTOM; GENE MUTATION; GROWTH RETARDATION; HEMODIALYSIS; HUMAN; HYPERTENSION; HYPOGONADISM; HYPOTHYROIDISM; INCIDENCE; INTERNET; INTRACRANIAL HYPERTENSION; KIDNEY DISEASE; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; LIFESPAN; LYSOSOME; MORBIDITY; MORTALITY; MUSCLE ATROPHY; NAUSEA; PANCREAS EXOCRINE INSUFFICIENCY; PATIENT COMPLIANCE; PERITONEAL DIALYSIS; PHOTOPHOBIA; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEINURIA; REVIEW; SUPPORT GROUP; SURVIVAL RATE; TERATOGENICITY; VOMITING;

ADMINISTRATION, ORAL; ADOLESCENT; ADULT; CHILD; CYSTEAMINE; CYSTINOSIS; DISEASE PROGRESSION; FANCONI SYNDROME; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; LIFE EXPECTANCY; MALE; MIDDLE AGED; SEVERITY OF ILLNESS INDEX; TREATMENT OUTCOME;

EID: 42649134517     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-007-0650-8     Document Type: Review

References (133)

1. Scriver C, Beaudet A, Sly W, Valle D Childs B, (2001) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, pp 5085-5101
2. Gahl WA, Thoene JG, Schneider JA (2002) Cystinosis. N Engl J Med 1347:111-121
3. Gahl WA (1986) Cystinosis coming of age. Adv Pediatr 33:95-126
4. Gahl WA, Kuehl EM, Iwata F, Lindblad A, Kaiser-Kupfer MI (2000) Corneal crystals in nephropathic cystinosis: Natural history and treatment with cysteamine eyedrops. Mol Genet Metab 71:100-120
5. Manz F, Gretz N (1994) Progression of chronic renal failure in a historical group of patients with nephropathic cystinosis. European Collaborative Study on Cystinosis. Pediatr Nephrol 8:466-471
6. Gahl WA, Kaiser-Kupfer MI (1987) Complications of nephropathic cystinosis after renal failure. Pediatr Nephrol 1:260-268
7. Theodoropoulos DS, Krasnewich D, Kaiser-Kupfer MI, Gahl WA (1993) Classic nephropathic cystinosis as an adult disease. JAMA 270:2200-2204
8. Gahl WA, Thoene JG, Schneider JA, O'Regan S, Kaiser-Kupfer MI, Kuwabara T (1988) NIH conference. Cystinosis: Progress in a prototypic disease. Ann Intern Med 109:557-569
9. Gahl W (2003) Early oral cysteamine therapy for nephropathic cystinosis. Eur J Pediatr 162[Suppl 1]:S38-41
10. Thoene JG (1983) Cysteamine treatment of nephropathic cystinosis. Prog Clin Biol Res 127:125-131
11. 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
12. Markello TC, Bernardini IM, Gahl WA (1993) Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 328:1157-1162
13. Kimonis VE, Troendle J, Rose SR, Yang ML, Markello TC, Gahl WA (1995) Effects of early cysteamine therapy on thyroid function and growth in nephropathic cystinosis. J Clin Endocrinol Metab 80:3257-3261
14. Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA (2005) Swallowing dysfunction in 101 patients with nephropathic cystinosis: Benefit of long-term cysteamine therapy. Medicine (Baltimore) 84:137-146
15. Tsilou ET, Rubin BI, Reed G, Caruso RC, Iwata F, Balog J, Gahl WA, Kaiser-Kupfer MI (2006) Nephropathic cystinosis: Posterior segment manifestations and effects of cysteamine therapy. Ophthalmology 113:1002-1009
16. Kleta R, Bernardini I, Ueda M, Varade WS, Phornphutkul C, Krasnewich D, Gahl WA (2004) Long-term follow-up of well-treated nephropathic cystinosis patients. J Pediatr 145:555-560
17. McDowell GA, Town MM, van't Hoff W, Gahl WA (1998) Clinical and molecular aspects of nephropathic cystinosis. J Mol Med 76:295-302
18. Town M, Jean G, Cherqui S, Attard M, Forestier L, Whitmore SA, Callen DF, Gribouval O, Broyer M, Bates GP, van't Hoff W, Antignac CA (1998) Novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nat Genet 18:319-324
19. Kalatzis V, Cherqui S, Antignac C, Gasnier B (2001) Cystinosin, the protein defective in cystinosis, is a H+ - driven lysosomal cystine transporter. EMBO J 20:5940-5949
20. Shotelersuk V, Larson D, Anikster Y, McDowell G, Lemons R, Bernardini I, Guo J, Thoene J, Gahl WA (1998) CTNS mutations in an American-based population of cystinosis patients. Am J Hum Genet 63:1352-1362
21. McGowan-Jordan J, Stoddard K, Podolsky L, Orrbine E, McLaine P, Town M, Goodyer P, MacKenzie A, Heick H (1999) Molecular analysis of cystinosis: probable Irish origin of the most common French Canadian mutation. Eur J Hum Genet 7:671-678
22. Anikster Y, Lucero C, Guo J, Huizing M, Shotelersuk V, Bernardini I, McDowell G, Iwata F, Kaiser-Kupfer MI, Jaffe R, Thoene J, Schneider JA, Gahl WA (2000) Ocular nonnephropathic cystinosis: Clinical, biochemical, and molecular correlations. Pediatr Res 47:17-23
23. Kleta R, Anikster Y, Lucero C, Shotelersuk V, Huizing M, Bernardini I, Park M, Thoene J, Schneider J, Gahl WA (2001) CTNS mutations in African American patients with cystinosis. Mol Genet Metab 74:332-337
24. Kalatzis V, Antignac C (2002) Cystinosis: From gene to disease. Nephrol Dial Transplant 17:1883-1886
25. Thoene J, Lemons R, Anikster Y, Mullet J, Paelicke K, Lucero C, Gahl W, Schneider J, Shu SG, Campbell HT (1999) Mutations of CTNS causing intermediate cystinosis. Mol Genet Metab 67:283-289
26. 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
27. 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
28. Gahl WA, Bashan N, Tietze F, Schulman JD (1984) Lysosomal cystine counter-transport in heterozygotes for cystinosis. Am J Hum Genet 36:77-82
29. Attard M, Jean G, Forestier L, Cherqui S, van't Hoff W, Broyer M, Antignac C, Town M (1999) Severity of phenotype in cystinosis varies with mutations in the CTNS gene: Predicted effect on the model of cystinosin. Hum Mol Genet 8:2507-2514
30. Gahl WA, Tietze F (1987) Lysosomal cystine transport in cystinosis variants and their parents. Pediatr Res 21:193-196
31. Park M, Helip-Wooley A, Thoene J (2002) Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells. J Am Soc Nephrol 13:2878-2887
32. Guicciardi ME, Leist M, Gores GJ (2004) Lysosomes in cell death. Oncogene 23:2881-2890
33. Racusen LC, Wilson PD, Hartz PA, Fivush BA, Burrow CR (1995) Renal proximal tubular epithelium from patients with nephropathic cystinosis: immortalized cell lines as in vitro model systems. Kidney Int 48:536-543
34. Cherqui S, Sevin C, Hamard G, Kalatzis V, Sich M, Pequignot MO, Gogat K, Abitbol M, Broyer M, Gubler MC, Antignac C (2002) Intralysosomal cystine accumulation in mice lacking cystinosin, the protein defective in cystinosis. Mol Cell Biol 22:7622-7632
35. Lemire J, Kaplan BS (1984) The various renal manifestations of the nephropathic form of cystinosis. Am J Nephrol 4:81-85
36. Baum M (1998) The Fanconi syndrome of cystinosis: Insights into the pathophysiology. Pediatr Nephrol 12:492-497
37. Arant BS, Greifer I, Edelmann CM Jr, Spitzer A (1976) Effect of chronic salt and water loading on the tubular defects of a child with Fanconi syndrome (cystinosis). Pediatrics 58:370-377
38. Theodoropoulos DS, Shawker TH, Heinrichs C, Gahl WA (1995) Medullary nephrocalcinosis in nephropathic cystinosis. Pediatr Nephrol 9:412-418
39. Gahl WA (1997) Nephropathic cystinosis. Pediatr Rev 18:302-304
40. 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
41. Ray TL, Tobias JD (2004) Perioperative care of the patient with nephropathic cystinosis. Paediatr Anaesth 14:878-885
42. Langlois V, Geary D, Murray L, Champoux S, Hébert D, Goodyer P (2000) Polyuria and proteinuria in cystinosis have no impact on renal transplantation. A report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol 15:7-10
43. Pabico RC, Panner BJ, McKenna BA, Bryson MF (1980) Glomerular lesions in patients with late-onset cystinosis with massive proteinuria. Ren Physiol 3:347-354
44. Middleton R, Bradbury M, Webb N, O'Donoghue D, Van't Hoff W (2003) Cystinosis. A clinicopathological conference. "From toddlers to twenties and beyond" Adult-Paediatric Nephrology Interface Meeting, Manchester 2001. Nephrol Dial Transplant 18:2492-2495
45. Gahl WA, Schneider JA, Schulman JD, Thoene JG, Reed GF (1990) Predicted reciprocal serum creatinine at age 10 years as a measure of renal function in children with nephropathic cystinosis treated with oral cysteamine. Pediatr Nephrol 4:129-135
46. van't Hoff WG, Ledermann SE, Waldron M, Trompeter RS (1995) Early-onset chronic renal failure as a presentation of infantile nephropathic cystinosis. Pediatr Nephrol 9:483-484
47. Mahoney CP, Striker GE (2000) Early development of the renal lesions in infantile cystinosis. Pediatr Nephrol 15:50-56
48. Koizumi F, Koeda T, Wakaki K, Matumoto M, Kobashi K, Akao T, Fukase M (1985) Cystinosis with marked atrophy of the kidneys and thyroid. Histological and ultrastructural studies in an autopsy case. Acta Pathol Jpn 35:145-155
49. Burke JR, El-Bishti MM, Maisey MN, Chantler C (1978) Hypothyroidism in children with cystinosis. Arch Dis Child 53:947-951
50. Bercu BB, Orloff S, Schulman JD (1980) Pituitary resistance to thyroid hormone in cystinosis. J Clin Endocrinol Metab 51:1262-1268
51. Betend B, Chatelain P, David L, Franćois R (1982) Treatment of rickets caused by infantile cystinosis using 1 alpha-hydroxyvitamin D. Arch Fr Pediatr 39:615-618
52. Zimakas PJ, Sharma AK, Rodd CJ (2003) Osteopenia and fractures in cystinotic children post renal transplantation. Pediatr Nephrol 18:384-390
53. Wühl E, Haffner D, Offner G, Broyer M, van't Hoff W, Mehls O (2001) European Study Group on Growth Hormone Treatment in Children with Nephropathic Cystinosis. Long-term treatment with growth hormone in short children with nephropathic cystinosis. J Pediatr 138:880-887
54. Lucky AW, Howley PM, Megyesi K, Spielberg SP, Schulman JD (1977) Endocrine studies in cystinosis: Compensated primary hypothyroidism. J Pediatr 91:204-210
55. Chan AM, Lynch MJ, Bailey JD, Ezrin C, Fraser D (1970) Hypothyroidism in cystinosis. A clinical, endocrinologic and histologic study involving sixteen patients with cystinosis. Am J Med 48:678-692
56. Broyer M, Tete MJ, Gubler MC (1987) Late symptoms in infantile cystinosis. Pediatr Nephrol 1:519-524
57. Tsilou ET, Rubin BI, Reed GF, Iwata F, Gahl W, Kaiser-Kupfer MI (2002) Age-related prevalence of anterior segment complications in patients with infantile nephropathic cystinosis. Cornea 21:173-176
58. Wong VG (1976) Ocular manifestations in cystinosis. Birth Defects Orig Arctic Ser 12:181-186
59. Richard G, Kroll P (1983) Retinal changes in cystinosis. Ophthalmologica 186:211-218
60. Dufier JL, Dhermy P, Gubler MC, Gagnadoux MF, Broyer M (1987) Ocular changes in long-term evolution of infantile cystinosis. Ophthalmic Paediatr Genet 8:131-137
61. Gahl WA, Hubbard VS, Orloff S (1984) Decreased sweat production in cystinosis. J Pediatr 104:904-905
62. Heller AN, Heller DS, Schwimmer A, Gordon RE, Cambria RJ (1994) Cystinosis and gingival hyperplasia: Demonstration of cystine crystals in gingival tissue and unusual aspects of management. J Periodontol 65:1139-1141
63. Busuttil DP, Liu Yin JA (2000) The bone marrow in hereditary cystinosis. Br J Haematol 111:385
64. Olcay L, Erdemli E, Kesimer M, Büyükasik Y, Okur H, Kalkanoǒlu HS, Coskun T, Altay C (2005) High cystine in platelets from patients with nephropathic cystinosis: A chemical, ultrastructural, and functional evaluation. J Clin Pathol 58:939-945
65. Kleta R, Kaskel F, Dohil R, Goodyer P, Guay-Woodford LM, Harms E, Ingelfinger JR, Koch VH, Langman CB, Leonard MB, Mannon RB, Sarwal M, Schneider JA, Skovby F, Sonies BC, Thoene JG, Trauner DA, Gahl WA (2005) NIH Office of Rare Diseases. First NIH/Office of Rare Diseases Conference on cystinosis: Past, present, and future. Pediatr Nephrol 20:452-454
66. Thoene JG, Oshima RG, Crawhall JC, Olson DL, Schneider JA (1976) Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. J Clin Invest 58:180-189
67. 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: Role in therapeutic cystine removal. J Biol Chem 260:4791-4798
68. Gahl WA, Tietze F, Butler JD, Schulman JD (1985) Cysteamine depletes cystinotic leucocyte granular fractions of cystine by the mechanism of disulphide interchange. Biochem J 228:545-550
69. Kleta R, Gahl WA (2004) Pharmacological treatment of nephropathic cystinosis with cysteamine. Expert Opin Pharmacother 5:2255-2262
70. Thoene JG (1995) Cystinosis. J Inherit Metab Dis 18:380-386
71. 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
72. Gahl WA, Charnas L, Markello TC, Bernardini I, Ishak KG, Dalakas MC (1992) Parenchymal organ cystine depletion with long-term cysteamine therapy. Biochem Med Metab Biol 48:275-285
73. Levtchenko EN, Wilmer M, de Graaf-Hess AC, van den Heuvel LP, Blom H, Monnens LA (2004) From gene to disease: Cystinosis. Ned Tijdschr Geneeskd 148:476-478
74. Kleta R, Gahl WA (2002) Cystinosis: Antibodies and healthy bodies. J Am Soc Nephrol 13:2189-2191
75. Dohil R, Fidler M, Barshop BA, Gangoiti J, Deutsch R, Martin M, Schneider JA (2006) Understanding intestinal cysteamine bitartrate absorption. J Pediatr 148:764-769
76. Kleta R (2006) A deeper look into cysteamine absorption for the treatment of cystinosis. J Pediatr 148:718-719
77. Vilaseca MA, Camacho JA, Briones P, Farré C, Mas A (1995) Biochemical follow-up in late-treated nephropathic cystinosis. J Inherit Metab Dis 18:147-150
78. Kaiser-Kupfer MI, Fujikawa L, Kuwabara T, Jain S, Gahl WA (1987) Removal of corneal crystals by topical cysteamine in nephropathic cystinosis. N Engl J Med 316:775-779
79. Kaiser-Kupfer MI, Gazzo MA, Datiles MB, Caruso RC, Kuehl EM, Gahl WA (1990) A randomized placebo-controlled trial of cysteamine eye drops in nephropathic cystinosis. Arch Ophthalmol 108:689-693
80. Kaiser-Kupfer MI, Datiles MB, Gahl WA (1987) Corneal transplant in a boy with nephropathic cystinosis. Lancet 1:331
81. Gahl WA, Schneider JA, Thoene JG, Chesney R (1986) Course of nephropathic cystinosis after age 10 years. J Pediatr 109:605-608
82. Broyer M, Guillot M, Gubler MC, Habib R (1981) Infantile cystinosis: A reappraisal of early and late symptoms. Adv Nephrol Necker Hosp 10:137-166
83. Gahl W, Balog J, Kleta R (2007) Nephropathic cystinosis in adults: natural history and effect of oral cysteamine therapy. Annals Intern Med 147:242-250
84. Gahl WA, Dalakas MC, Charnas L, Chen KT, 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
85. Charnas LR, Luciano CA, Dalakas M, Gilliatt RW, Bernardini I, Ishak K, Cwik VA, Fraker D, Brushart TA, Gahl WA (1994) Distal vacuolar myopathy in nephropathic cystinosis. Ann Neurol 35:181-188
86. Müller-Felber W, Schröder M, Hirschmann M, Kastrup K, Töpfer M, Pongratz D (1999) Neurophysiological testing in long-standing cystinosis. Electromyogr Clin Neurophysiol 39:67-70
87. Harper GS, Bernardini I, Hurko O, Zuurveld J, Gahl WA (1987) Cystine storage in cultured myotubes from patients with nephropathic cystinosis. Biochem J 243:841-845
88. Sonies BC, Ekman EF, Andersson HC, Adamson MD, Kaler SG, Markello TC, Gahl WA (1990) Swallowing dysfunction in nephropathic cystinosis. N Engl J Med 323:565-570
89. Trauner DA, Fahmy RF, Mishler DA (2001) Oral motor dysfunction and feeding difficulties in nephropathic cystinosis. Pediatr Neurol 24:365-368
90. Anikster Y, Lacbawan F, Brantly M, Gochuico BL, Avila NA, Travis W, Gahl WA (2001) Pulmonary dysfunction in adults with nephropathic cystinosis. Chest 119:394-401
91. Broyer M, Tete MJ, Guest G, Bertheleme JP, Labrousse F, Poisson M (1996) Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J Inherit Metab Dis 19:65-75
92. Fink JK, Brouwers P, Barton N, Malekzadeh MH, Sato S, Hill S, Cohen WE, Fivush B, Gahl WA (1989) Neurologic complications in long-standing nephropathic cystinosis. Arch Neurol 46:543-548
93. Levine S, Paparo G (1982) Brain lesions in a case of cystinosis. Acta Neuropathol (Berl) 57:217-220
94. Cochat P, Drachman R, Gagnadoux MF, Pariente D, Broyer M (1986) Cerebral atrophy and nephropathic cystinosis. Arch Dis Child 61:401-403
95. Vogel DG, Malekzadeh MH, Cornford ME, Schneider JA, Shields WD, Vinters HV (1990) Central nervous system involvement in nephropathic cystinosis. J Neuropathol Exp Neurol 49:591-599
96. Dogulu CF, Tsilou E, Rubin B, Fitzgibbon EJ, Kaiser-Kupper MI, Rennert OM, Gahl WA (2004) Idiopathic intracranial hypertension in cystinosis. J Pediatr 145:673-678
97. Ross DL, Strife CF, Towbin R, Bove KE (1982) Nonabsorptive hydrocephalus associated with nephropathic cystinosis. Neurology 32:1330-1334
98. Almond PS, Matas AJ, Nakhleh RE, Morel P, Troppmann C, Najarian JS, Chavers B (1993) Renal transplantation for infantile cystinosis: long-term follow-up. J Pediatr Surg 28:232-238
99. Spilkin AM, Ballantyne AO, Babchuck LR, Trauner DA (2007) Non-verbal deficits in young children with a genetic metabolic disorder: WPPSI-III performance in cystinosis. Am J Med Genet B Neuropsychiatr Genet 144:444-447
100. Ehrich JH, Wolff G, Stoeppler L, Heyer R, Offner G, Brodehl J (1979) Psychosocial intellectual development of children with infantile cystinosis and cerebral atrophy. Klin Padiatr 191:483-492
101. Wolff G, Ehrich JH, Offner G, Brodehl J (1982) Psychosocial and intellectual development in 12 patients with infantile nephropathic cystinosis. Acta Paediatr Scand 71:1007-1011
102. Colah S, Trauner DA (1997) Tactile recognition in infantile nephropathic cystinosis. Dev Med Child Neurol 39:409-413
103. Ballantyne AO, Trauner DA (2000) Neurobehavioral consequences of a genetic metabolic disorder: Visual processing deficits in infantile nephropathic cystinosis. Neuropsychiatry Neuropsychol Behav Neurol 13:254-263
104. Nichols SL, Press GA, Schneider JA, Trauner DA (1990) Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. Pediatr Neurol 6:379-381
105. Delgado G, Schatz A, Nichols S, Appelbaum M, Trauner D (2005) Behavioral profiles of children with infantile nephropathic cystinosis. Dev Med Child Neurol 47:403-407
106. Ueda M, OBrien K, Rosing D, Ling A, Kleta R, McAreavey D, Bernardini I, Gahl W (2006) Coronary artery and other vascular calcifications in patients with cystinosis after kidney transplantation. Clin J Am Soc Nephrol 1:555-562
107. Murphy JL, Papathakis PC (1993) Hypercholesterolemia in children with cystinosis. Pediatr Nephrol 7:159-162
108. Dixit MP, Greifer I (2002) Nephropathic cystinosis associated with cardiomyopathy: A 27-year clinical follow-up. BMC Nephrol 3:8
109. Olgar S, Nisli K, Dindar A, Omeroglu RE, Ertugrul T (2006) Can cystinosis cause coronary artery dilatation? Pediatr Cardiol 27:263-268
110. Strayer DS (1979) Cystinosis and dissecting aortic aneurysm in a 7-year-old boy. Am J Dis Child 133:436-438
111. Winkler L, Offner G, Krull F, Brodehl J (1993) Growth and pubertal development in nephropathic cystinosis. Eur J Pediatr 152:244-249
112. Chik CL, Friedman A, Merriam GR, Gahl WA (1993) Pituitary-testicular function in nephropathic cystinosis. Ann Intern Med 119:568-575
113. Hillenbrand M, Stropahl G, Seiter H (1998) Massive tumour-like testicular cystine accumulation in a patient with infantile nephropathic cystinosis. Br J Urol 81:331-332
114. 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
115. Ammenti A, Grossi A, Bernasconi S (1986) Infantile cystinosis and insulin-dependent diabetes mellitus. Eur J Pediatr 145:548-549
116. 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
117. Filler G, Amendt P, von Bredow MA, Rohde W, Ehrich JH (1998) Slowly deteriorating insulin secretion and C-peptide production characterizes diabetes mellitus in infantile cystinosis. Eur J Pediatr 157:738-742
118. Robert JJ, Tête MJ, Guest G, Gagnadoux MF, Niaudet P, Broyer M (1999) Diabetes mellitus in patients with infantile cystinosis after renal transplantation. Pediatr Nephrol 13:524-529
119. Elenberg E, Norling LL, Kleinman RE, Ingelfinger JR (1998) Feeding problems in cystinosis. Pediatr Nephrol 12:365-370
120. 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
121. O'Brien K, Hussain N, Warady BA, Kleiner DE, Kleta R, Bernardini I, Heller T, Gahl WA (2006) Nodular regenerative hyperplasia and severe portal hypertension in cystinosis. Clin Gastroenterol Hepatol 4:387-394
122. Rossi S, Herrine SK, Navarro VJ (2005) Cystinosis as a cause of noncirrhotic portal hypertension. Dig Dis Sci 50:1372-1375
123. DiDomenico P, Berry G, Bass D, Fridge J, Sarwal M (2004) Noncirrhotic portal hypertension in association with juvenile nephropathic cystinosis: Case presentation and review of the literature. J Inherit Metab Dis 27:693-699
124. Klenn PJ, Rubin R (1994) Hepatic fibrosis associated with hereditary cystinosis: A novel form of noncirrhotic portal hypertension. Mod Pathol 7:879-882
125. Fivush B, Flick JA, Gahl WA (1988) Pancreatic exocrine insufficiency in a patient with nephropathic cystinosis. J Pediatr 112:49-51
126. Treem WR, Rusnack EJ, Ragsdale BD, Seikaly MG, DiPalma JS (1988) Inflammatory bowel disease in a patient with nephropathic cystinosis. Pediatrics 81:584-587
127. Assadi FK, Sandler RH, Wong PW, Salem M, Simenauer L (2002) Infantile cystinosis presenting as chronic constipation. Am J Kidney Dis 39:E24
128. Kalatzis V, Serratrice N, Hippert C, Payet O, Arndt C, Cazevieille C, Maurice T, Hamel C, Malecaze F, Antignac C, Muller A, Kremer EJ (2007) The ocular anomalies in a cystinosis animal model mimic disease pathogenesis. Pediatr Res 62:156-162
129. Geelen JM, Monnens LA, Levtchenko EN (2002) Follow-up and treatment of adults with cystinosis in the Netherlands. Nephrol Dial Transplant 17:1766-1770
130. Levtchenko E, Blom H, Wilmer M, van den Heuvel L, Monnens L (2003) ACE inhibitor enalapril diminishes albuminuria in patients with cystinosis. Clin Nephrol 60:386-389
131. Broyer M (2000) Cystinosis from childhood to adulthood. Nephrologie 21:13-18
132. Beckman DA, Mullin JJ, Assadi FK (1998) Developmental toxicity of cysteamine in the rat: Effects on embryo-fetal development. Teratology 58:96-102
133. Haase M, Morgera S, Bamberg C, Halle H, Martini S, Dragun D, Neumayer H-H, Budde K (2006) Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever. J Nephrol 19:677-681