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Volumn 12, Issue , 2014, Pages 176-184

Cystinosis: Clinical presentation, pathogenesis and treatment

Author keywords

Cysteamine therapy; Cystinosis; Fanconi syndrome; Lysosomal storage disorder; Renal pathology

Indexed keywords

MERCAPTAMINE;

EID: 84908245571     PISSN: 15654753     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (23)

References (83)
  • 2
    • 0013829890 scopus 로고
    • Changes in kidney function in cystinosis. I. Inulin, PAH and electrolyte clearance in various stages of the disease
    • Broedhl J, Hagge W, Gellissen K. Changes in kidney function in cystinosis. I. Inulin, PAH and electrolyte clearance in various stages of the disease. Ann Pediatr 1965, 205:131-154
    • (1965) Ann Pediatr , vol.205 , pp. 131-154
    • Broedhl, J.1    Hagge, W.2    Gellissen, K.3
  • 3
    • 33644584913 scopus 로고    scopus 로고
    • Development of Fanconi syndrome during infancy in a patient with cystinosis
    • Levtchenko E, Monnens L. Development of Fanconi syndrome during infancy in a patient with cystinosis. Acta Paediatr 2006, 95: 379-380
    • (2006) Acta Paediatr , vol.95 , pp. 379-380
    • Levtchenko, E.1    Monnens, L.2
  • 6
    • 43849097689 scopus 로고    scopus 로고
    • Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathy cystinosis
    • Wilmer MJ, Christensen El, van den Heuvel LP, Monnens LA, Levtchenko EN. Urinary protein excretion pattern and renal expression of megalin and cubilin in nephropathy cystinosis. Am J Kidney Dis 2008, 51:893-903
    • (2008) Am J Kidney Dis , vol.51 , pp. 893-903
    • Wilmer, M.J.1    El, C.2    Van Den Heuvel, L.P.3    Monnens, L.A.4    Levtchenko, E.N.5
  • 7
    • 0027478064 scopus 로고
    • Improved renal function in children with cystinosis treated with cysteamine
    • Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993, 328:1157-1162
    • (1993) N Engl J Med , vol.328 , pp. 1157-1162
    • Markello, T.C.1    Bernardini, I.M.2    Gahl, W.A.3
  • 8
    • 0029557146 scopus 로고
    • Renal allograft survival according to primary diagnosis: A report of the North American Pediatric Renal Transplant Cooperative Study
    • Kashtan CE, McEnery PT, Tejani A, Stablein DM. Renal allograft survival according to primary diagnosis: a report of the North American Pediatric Renal Transplant Cooperative Study. Pediatr Nephrol 1995, 9:679-684
    • (1995) Pediatr Nephrol , vol.9 , pp. 679-684
    • Kashtan, C.E.1    McEnery, P.T.2    Tejani, A.3    Stablein, D.M.4
  • 13
    • 0032709292 scopus 로고    scopus 로고
    • New method for determining cystine in leukocytes and fibroblasts
    • Graaf-Hess A, Trijbels F, Blom H. New method for determining cystine in leukocytes and fibroblasts. Clin Chem 1999, 45: 2224-2228
    • (1999) Clin Chem , vol.45 , pp. 2224-2228
    • Graaf-Hess, A.1    Trijbels, F.2    Blom, H.3
  • 14
    • 4344707232 scopus 로고    scopus 로고
    • Comparison of cystine determination in mixed leukocytes vs polymerphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy
    • Levtchenko E, de Graaf-Hess A, Wilmer M, van den Heuvel L, Monnens L, Blom H. Comparison of cystine determination in mixed leukocytes vs polymerphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy. Clin Chem 2004, 50:1686-1688
    • (2004) Clin Chem , vol.50 , pp. 1686-1688
    • Levtchenko, E.1    De Graaf-Hess, A.2    Wilmer, M.3    Van Den Heuvel, L.4    Monnens, L.5    Blom, H.6
  • 15
    • 34249706461 scopus 로고    scopus 로고
    • Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry
    • Chabli A, Aupetit J, Raehm M, Ricquier D, Chadefaux-Vekemans B. Measurement of cystine in granulocytes using liquid chromatography-tandem mass spectrometry. Clin Biochem 2007, 40:692-698
    • (2007) Clin Biochem , vol.40 , pp. 692-698
    • Chabli, A.1    Aupetit, J.2    Raehm, M.3    Ricquier, D.4    Chadefaux-Vekemans, B.5
  • 16
    • 0033675572 scopus 로고    scopus 로고
    • Early development of the renal lesions in infantile cystinosis
    • Mahoney CP, Striker GE. Early development of the renal lesions in infantile cystinosis. Pediatr Nephrol 2000, 15: 50-56
    • (2000) Pediatr Nephrol , vol.15 , pp. 50-56
    • Mahoney, C.P.1    Striker, G.E.2
  • 17
    • 0010765599 scopus 로고    scopus 로고
    • The pathology of the kidney in cystinosis
    • Broyer M (ed) Elsevier, Amsterdam
    • Gubler MC, Lacoste M, Sich M, Broyer M. The pathology of the kidney in cystinosis. In: Broyer M (ed) Cystinosis, 1st ed. Elsevier, Amsterdam 1999, pp 42-48
    • (1999) Cystinosis, 1st Ed. , pp. 42-48
    • Gubler, M.C.1    Lacoste, M.2    Sich, M.3    Broyer, M.4
  • 20
    • 0022487021 scopus 로고
    • Long-term ocular manifestations in nephropathic cystinosis
    • Kaiser-Kupfer Ml, Caruso RC, Minkler DS, Gahl WA. Long-term ocular manifestations in nephropathic cystinosis. Arch Ophtalmol 1986, 104:706-711
    • (1986) Arch Ophtalmol , vol.104 , pp. 706-711
    • Ml, K.1    Caruso, R.C.2    Minkler, D.S.3    Gahl, W.A.4
  • 22
    • 0014799692 scopus 로고
    • Hypothyroidism in cystinosis. A clinical, endocrinologic and histologic study involving sixteen patients with cystinosis
    • Chan AM, Lynch MJ, Bailey JD, Ezrin C, Fraser D. Hypothyroidism in cystinosis. A clinical, endocrinologic and histologic study involving sixteen patients with cystinosis. Am J Med 1970, 48:678-692
    • (1970) Am J Med , vol.48 , pp. 678-692
    • Chan, A.M.1    Lynch, M.J.2    Bailey, J.D.3    Ezrin, C.4    Fraser, D.5
  • 24
    • 0027506402 scopus 로고
    • Growth and pubertal development in nephropathic cystinosis
    • Winkler L, Offner G, Krull F, Broedhl J. Growth and pubertal development in nephropathic cystinosis. Eur J Pediatr 1993, 152: 244-249
    • (1993) Eur J Pediatr , vol.152 , pp. 244-249
    • Winkler, L.1    Offner, G.2    Krull, F.3    Broedhl, J.4
  • 25
    • 77949915681 scopus 로고    scopus 로고
    • Fertility status in male cystinosis patients treated with cysteamine
    • Besouw MT, Kremer JA, Janssen MC, Levtchenko EN. Fertility status in male cystinosis patients treated with cysteamine. Fertil Steril 2010, 93:1880-1883
    • (2010) Fertil Steril , vol.93 , pp. 1880-1883
    • Besouw, M.T.1    Kremer, J.A.2    Janssen, M.C.3    Levtchenko, E.N.4
  • 31
    • 84870410249 scopus 로고    scopus 로고
    • Cystinosis: The evolution of a treatable disease
    • Nesterova G, Gahl WA. Cystinosis: the evolution of a treatable disease. Pediatr Nephrol 2013, 28:51-59
    • (2013) Pediatr Nephrol , vol.28 , pp. 51-59
    • Nesterova, G.1    Gahl, W.A.2
  • 32
    • 18744364173 scopus 로고    scopus 로고
    • Swallowing dysfunction in 101 patients with nephropathic cystinosis-Benefit of long-term cysteamine therapy
    • Sonies BC, Almajid P, Kleta R, Bernardini I, Gahl WA. Swallowing dysfunction in 101 patients with nephropathic cystinosis-benefit of long-term cysteamine therapy. Medicine 2005, 84:137-146
    • (2005) Medicine , vol.84 , pp. 137-146
    • Sonies, B.C.1    Almajid, P.2    Kleta, R.3    Bernardini, I.4    Gahl, W.A.5
  • 34
    • 79961129117 scopus 로고    scopus 로고
    • The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells
    • Freed KA, Blangero J, Howard T, Johnson MP, Curran JE, Garcia YR, Lan HC, Abboud HE, Moses EK. The 57 kb deletion in cystinosis patients extends into TRPV1 causing dysregulation of transcription in peripheral blood mononuclear cells. J Med Genet 2011, 48: 563-566
    • (2011) J Med Genet , vol.48 , pp. 563-566
    • Freed, K.A.1    Blangero, J.2    Howard, T.3    Johnson, M.P.4    Curran, J.E.5    Garcia, Y.R.6    Lan, H.C.7    Abboud, H.E.8    Moses, E.K.9
  • 37
    • 3242722276 scopus 로고    scopus 로고
    • Molecular pathogenesis of cystinosis: Effect of CTNS mutations on the transport activity and subcellular localization of cystinosin
    • Kalatzis V, Nevo N, Cherqui S, Gasnier B, Antignac C. Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin. Hum Mol Genet 2004, 13:1361-1371
    • (2004) Hum Mol Genet , vol.13 , pp. 1361-1371
    • Kalatzis, V.1    Nevo, N.2    Cherqui, S.3    Gasnier, B.4    Antignac, C.5
  • 38
    • 0019940282 scopus 로고
    • Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis
    • Gahl WA, Bashan N, Tietze F, Bernardini I, Schulman JD. Cystine transport is defective in isolated leukocyte lysosomes from patients with cystinosis. Science 1982, 217:1263-1265
    • (1982) Science , vol.217 , pp. 1263-1265
    • Gahl, W.A.1    Bashan, N.2    Tietze, F.3    Bernardini, I.4    Schulman, J.D.5
  • 39
    • 0020353717 scopus 로고
    • ATP-dependent lysosomal cystine efflux is defective in cystinosis
    • Jonas AJ, Smith ML, Schneider JA. ATP-dependent lysosomal cystine efflux is defective in cystinosis. J Biol Chem 1982, 257: 3185-3188
    • (1982) J Biol Chem , vol.257 , pp. 3185-3188
    • Jonas, A.J.1    Smith, M.L.2    Schneider, J.A.3
  • 43
    • 0035503565 scopus 로고    scopus 로고
    • Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter
    • Kalatzis V, Cherqui S, Antignac C, Gasnier B. Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter. EMBOJ 2001. 20: 5940-5949
    • (2001) EMBOJ , vol.20 , pp. 5940-5949
    • Kalatzis, V.1    Cherqui, S.2    Antignac, C.3    Gasnier, B.4
  • 44
    • 0022461989 scopus 로고
    • Further studies on the effect of chloroquine on the uptake, metabolism and intracellular translocation of [35S] cystine in cystinotic fibroblasts
    • Danpure CJ, Jennings PR, Fyfe DA. Further studies on the effect of chloroquine on the uptake, metabolism and intracellular translocation of [35S] cystine in cystinotic fibroblasts. Biochem Biophys Acta 1986, 885:256-265
    • (1986) Biochem Biophys Acta , vol.885 , pp. 256-265
    • Danpure, C.J.1    Jennings, P.R.2    Fyfe, D.A.3
  • 45
    • 0018849769 scopus 로고
    • Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin
    • Thoene JG, Lemons R. Modulation of the intracellular cystine content of cystinotic fibroblasts by extracellular albumin. Pediatr Res 1980, 14:785-787
    • (1980) Pediatr Res , vol.14 , pp. 785-787
    • Thoene, J.G.1    Lemons, R.2
  • 48
    • 0020420396 scopus 로고
    • Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leukocytes
    • Gahl WA, Tietze F, Bashan N, Steinherz R, Schulman JD. Defective cystine exodus from isolated lysosome-rich fractions of cystinotic leukocytes. J Biol Chem 1982, 257:9570-9575
    • (1982) J Biol Chem , vol.257 , pp. 9570-9575
    • Gahl, W.A.1    Tietze, F.2    Bashan, N.3    Steinherz, R.4    Schulman, J.D.5
  • 49
    • 0018574224 scopus 로고
    • Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease
    • Tietze F, Butler JD. Elevated cystine levels in cultured skin fibroblasts from patients with I-cell disease. Pediatr Res 1979, 13:1350-1355
    • (1979) Pediatr Res , vol.13 , pp. 1350-1355
    • Tietze, F.1    Butler, J.D.2
  • 53
    • 84984766757 scopus 로고    scopus 로고
    • Megalin and cubilin : Multifunctional endocytic receptors
    • Christensen El, Birn H. Megalin and cubilin : multifunctional endocytic receptors. Nat Rev Mol Cell Biol 2002, 3:256-266
    • (2002) Nat Rev Mol Cell Biol , vol.3 , pp. 256-266
    • El, C.1    Birn, H.2
  • 55
    • 84864962284 scopus 로고    scopus 로고
    • Endocytic receptors in the renal proximal tubule
    • Chritensen El, Birn H, Storm T, Weyer K, Nielsen R. Endocytic receptors in the renal proximal tubule. Physiology 2012, 27: 223-236
    • (2012) Physiology , vol.27 , pp. 223-236
    • El, C.1    Birn, H.2    Storm, T.3    Weyer, K.4    Nielsen, R.5
  • 56
    • 80052592689 scopus 로고    scopus 로고
    • Medelian disorders of membrane trafficking
    • De Mattel's MA, Luini A. Medelian disorders of membrane trafficking. NEJM 2011, 365 :927-938
    • (2011) NEJM , vol.365 , pp. 927-938
    • De Mattel'S, M.A.1    Luini, A.2
  • 57
    • 0034676433 scopus 로고    scopus 로고
    • CIC-5 CI-Channel disruption impairs endocytosis in a mouse model for Dent's disease
    • Piwon N, Gunther W, Schwake M, Bosl MR, Jentsch TJ. CIC-5 CI-channel disruption impairs endocytosis in a mouse model for Dent's disease. Nature 2000, 408:369-373
    • (2000) Nature , vol.408 , pp. 369-373
    • Piwon, N.1    Gunther, W.2    Schwake, M.3    Bosl, M.R.4    Jentsch, T.J.5
  • 59
    • 78349266424 scopus 로고    scopus 로고
    • The pathogenesis of cystinosis: Mechanisms beyond cystine accumulation
    • Wimer MJ, Emma F, Levtchenko EN. The pathogenesis of cystinosis: mechanisms beyond cystine accumulation. Am J Physiol Renal Physiol 2010, 299: 905-916
    • (2010) Am J Physiol Renal Physiol , vol.299 , pp. 905-916
    • Wimer, M.J.1    Emma, F.2    Levtchenko, E.N.3
  • 61
    • 0032991086 scopus 로고    scopus 로고
    • Induction of monocyte chemoattractant protein-1 by albumin is mediated by nuclear factor kappa B in proximal tubular cells
    • Wang Y, Rangan GK, Tay YC, Wang Y, Harris DC. Induction of monocyte chemoattractant protein-1 by albumin is mediated by nuclear factor kappa B in proximal tubular cells. J Am Soc Nephrol 1999, 10:1204-1213
    • (1999) J Am Soc Nephrol , vol.10 , pp. 1204-1213
    • Wang, Y.1    Rangan, G.K.2    Tay, Y.C.3    Wang, Y.4    Harris, D.C.5
  • 62
    • 0034851108 scopus 로고    scopus 로고
    • Regulation of endothelin-1 and transforming growth factor-beta 1 production in cultured proximal tubular cells by albumin and heparan sulfate glycosaminoglycans
    • Yard BA, Chorianopoulos E, Herr D, van der Woude FJ. Regulation of endothelin-1 and transforming growth factor-beta 1 production in cultured proximal tubular cells by albumin and heparan sulfate glycosaminoglycans. Nephrol Dial Transplant 2001, 16:1769-1775
    • (2001) Nephrol Dial Transplant , vol.16 , pp. 1769-1775
    • Yard, B.A.1    Chorianopoulos, E.2    Herr, D.3    Van Der Woude, F.J.4
  • 63
    • 68449100239 scopus 로고    scopus 로고
    • Diabetic albuminuria is due to a small fraction of nephrons distinguished by albumin-stained tubules and glomerular adhesions
    • Kralik PM, Long Y, Song Y, Yang L, Wei H, Coventry S, Zheng S, Epstein PN. Diabetic albuminuria is due to a small fraction of nephrons distinguished by albumin-stained tubules and glomerular adhesions. Am J Pathol 2009, 175:500-509
    • (2009) Am J Pathol , vol.175 , pp. 500-509
    • Kralik, P.M.1    Long, Y.2    Song, Y.3    Yang, L.4    Wei, H.5    Coventry, S.6    Zheng, S.7    Epstein, P.N.8
  • 66
    • 37649005234 scopus 로고    scopus 로고
    • Autophagy in the pathogenesis of disease
    • Levine B, Kroemer G. Autophagy in the pathogenesis of disease. Cell 2008, 132: 27-42
    • (2008) Cell , vol.132 , pp. 27-42
    • Levine, B.1    Kroemer, G.2
  • 67
    • 79961122410 scopus 로고    scopus 로고
    • Regulation of autophagy by lysosomal positioning
    • Korolchuk VI, Rubinsztein DC. Regulation of autophagy by lysosomal positioning. Autophagy 2011, 7:9, 927-928
    • (2011) Autophagy , vol.7 , Issue.9 , pp. 927-928
    • Korolchuk, V.I.1    Rubinsztein, D.C.2
  • 68
    • 77957678023 scopus 로고    scopus 로고
    • Abnormal mitochondrial autophagy in nephrophatic cystinosis
    • Sansanwal P, Sarwal MM. Abnormal mitochondrial autophagy in nephrophatic cystinosis. Autophagy 2010, 6:971-973
    • (2010) Autophagy , vol.6 , pp. 971-973
    • Sansanwal, P.1    Sarwal, M.M.2
  • 69
    • 84868128390 scopus 로고    scopus 로고
    • P62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathy cystinosis
    • Sansanwal P, Sarwal MM. P62/SQSTM1 prominently accumulates in renal proximal tubules in nephropathy cystinosis. Pediatr Nephrol 2012, 27: 2137-2144
    • (2012) Pediatr Nephrol , vol.27 , pp. 2137-2144
    • Sansanwal, P.1    Sarwal, M.M.2
  • 71
    • 36148938793 scopus 로고    scopus 로고
    • A review of the role of enhanced apoptosis in the pathophysiology of cystinosis
    • Thoene JG. A review of the role of enhanced apoptosis in the pathophysiology of cystinosis. Mol Genet Metab 2007, 92:292-298
    • (2007) Mol Genet Metab , vol.92 , pp. 292-298
    • Thoene, J.G.1
  • 72
    • 84867194585 scopus 로고    scopus 로고
    • Activation of AMP kinase plays a role in the increased apoptosis in the renal proximal tubule in cystinosis
    • Taub M, Cutuli F. Activation of AMP kinase plays a role in the increased apoptosis in the renal proximal tubule in cystinosis. Biochem Biophys Res Commun 2012, 426:516-521
    • (2012) Biochem Biophys Res Commun , vol.426 , pp. 516-521
    • Taub, M.1    Cutuli, F.2
  • 73
    • 0036891796 scopus 로고    scopus 로고
    • Lysosomal cystine storage augments apoptosis in cultured human fibroblasts and renal tubular epithelial cells
    • 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, 13:2878-2887
    • (2002) J Am Soc Nephrol , vol.13 , pp. 2878-2887
    • Park, M.1    Helip-Wooley, A.2    Thoene, J.3
  • 74
    • 76749111949 scopus 로고    scopus 로고
    • Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis
    • Sansanwal P, Kambham N, Sarwal MM. Caspase-4 may play a role in loss of proximal tubules and renal injury in nephropathic cystinosis. Pediatr Nephrol 2010, 25:105-109
    • (2010) Pediatr Nephrol , vol.25 , pp. 105-109
    • Sansanwal, P.1    Kambham, N.2    Sarwal, M.M.3
  • 75
    • 39049085896 scopus 로고    scopus 로고
    • Generation and evolution of atubular glomeruli in the progression of renal disorders
    • Chevalier RL, Forbes MS. Generation and evolution of atubular glomeruli in the progression of renal disorders. J Am Soc Nephrol 2008, 19:197-206
    • (2008) J Am Soc Nephrol , vol.19 , pp. 197-206
    • Chevalier, R.L.1    Forbes, M.S.2
  • 76
    • 0026782704 scopus 로고
    • Cystine dimethyl ester reduces the forces driving sodium-dependent transport in LLC-PK1 cells
    • Bennun A, Bashan N, Potashnik R, Cohenluria R, Moran A. Cystine dimethyl ester reduces the forces driving sodium-dependent transport in LLC-PK1 cells. Am J Physiol Cell Physiol 1992, 263: C516-C520
    • (1992) Am J Physiol Cell Physiol , vol.263 , pp. C516-C520
    • Bennun, A.1    Bashan, N.2    Potashnik, R.3    Cohenluria, R.4    Moran, A.5
  • 77
    • 0025905226 scopus 로고
    • Role of adenosine-triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading
    • Coor C, Salmon RF, Quigley R, Marver D, Baum M. Role of adenosine-triphosphate (ATP) and NaK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J Clin Invest 1991, 87:955-961
    • (1991) J Clin Invest , vol.87 , pp. 955-961
    • Coor, C.1    Salmon, R.F.2    Quigley, R.3    Marver, D.4    Baum, M.5
  • 78
    • 0001374640 scopus 로고
    • The Fanconi syndrome with cystinosis. Electron microscopy of renal biopsy specimens from five patients
    • Jackson JD, Smith F, Litman N, Yuile C, Latta H. The Fanconi syndrome with cystinosis. Electron microscopy of renal biopsy specimens from five patients. Am J Med 1962, 33:893-910
    • (1962) Am J Med , vol.33 , pp. 893-910
    • Jackson, J.D.1    Smith, F.2    Litman, N.3    Yuile, C.4    Latta, H.5


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