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Cystinosis Literature

Cystinosis Literature

LAST UPDATE: Sunday January 10 2021


1.   Cystinosis beyond kidneys: gastrointestinal system and muscle involvement (Topaloglu A, et al. BMC Gastroenterol. Jul 2020) This prospective study of 21 cystinosis patients (mean age, 15 years) found that patients with mixed leukocyte cystine levels >=2 nmol 1/2-cystine/mg protein had a higher rate of gastrointestinal complications and swallowing dysfunction (although results were not statistically significant). The study reported a 30% rate of swallowing impairment in this relatively young cohort, highlighting the need for awareness and early evaluation in pediatric patients
2.    Clinical trial readiness study of distal myopathy and dysphagia in nephropathic cystinosis (Sadjadi R, et al. Muscle Nerve. Aug 2020) This second phase of an ongoing study of 20 adult cystinosis patients (60% with swallowing difficulty; 85% with muscle weakness) reported that a 5-week respiratory exercise regimen resulted in significant improvement in respiratory function, which may reduce aspiration risk in those with more severe dysphagia
3.    Chitotriosidase as a novel biomarker for therapeutic monitoring of nephropathic cystinosis (Veys K, et al. J Am Soc Nephrol. Apr 2020) This 2-year prospective study of 57 cystinosis patients (mean age, 22 years) reported that chitotriosidase enzyme activity was a potential predictor of treatment adherence and the presence of extrarenal disease manifestations. The authors listed potential advantages of chitotriosidase as a biomarker vs white blood cell cystine monitoring, including improved assessment of total body cystine load, and simplified test technology and logistics. However, a certain percentage of all people have congenital absence of chitotriosidase, and even among those with chitotriosidase, the differences distinguish between groups of patients better than between individuals.

1.  da Silva, V.A., Zurbrugg, R.P., Lavanchy, P., Blumberg, A., Suter, H., Wyss, S.R., Luthy, C.M. and Oetliker, O.H. Long-term treatment of infantile nephropathic cystinosis with cysteamine. N.Engl.J.Med.313:1460-1463, 1985.

2.  Gahl, W.A., Reed, G.F., Thoene, J.G., Schulman, J.D., Rizzo, W.B., Jonas, A.J., Denman, D.W., Schlesselman, J.J., Corden, B.J., and Schneider, J.A., Cysteamine therapy for children with nephropathic cystinosis. N.Engl.J.Med. 316:971-977, 1987.

3.  Reznik, V.M., Adamson, M., Adelman, R.D., Murphy, J.L., Gahl, W.A., Clark, K.F., and Schneider, J.A. Treatment of cystinosis with cysteamine from early infancy. Journal of Pediatrics ,119:491-493. 1990

4.   Reznik, V.M., Adamson, M., Adelman, R.D., Murphy, J.L., Gahl, W.A., Clark, K.F. and Schneider, J.A. Treatment of cystinosis with cysteamine from early infancy. J.Pediatr.119:491-493, 1991.

5.  Clark, K.F., Franklin, P.S., Reisch, J.S., Hoffman, H.J., Gahl, W.A., Thoene, J.G., and Schneider, J.A. Effect of cysteamine-HCl and phosphocysteamine dosage on renal function and growth in children with nephropathic cystinosis. Pediatric Research . 31:331A, 1992. (Abstract)

6.  Markello, T.C., Bernardini, I.M., and Gahl, W.A. Improved renal function in children with cystinosis treated with cysteamine. New England Journal of Medicine , 328 (16):1157-1162. 1993

7.  Cysteamine for cystinosis. Med.Lett.Drugs.Ther.36:118, 1994.

8.  Schneider, J.A. Approval of cysteamine for patients with cystinosis. Pediatric Nephrology , 9:254, 1995.

9.   Wenner, W.J., Murphy, J.L. The effects of cysteamine on the upper gastrointestinal tract of children with cystinosis. Pediatric Nephrology11(5): 600-3, Oct. 1997.

10.  Schneider, J.A., Clark, K.F., Greene, A.A., Reisch, J.S., Markello, T.C., Gahl, W.A., Thoene, J.G., Noonan, P.K., Berry, K.A. Recent advances in the treatment of cystinosis. J. Inher. Metab. Dis 18:387-397. 1995.

11.  Schneider, J.A. Cysteamine for treatment of cystinosis. Nephrology Dialysis Transplantation. 9. 97-102, 1996.


1.  Smith, M.L., Clark, K.F., Davis, S.E., Greene, A.A., Marcusson, E.G., Chen, Y-J. and Schneider, J.A. Diagnosis of cystinosis with use of placenta. N.Engl.J.Med.321:397-398, 1989.

2.   McDowell,G.A., Gahl, W.A., Stephenson, L.A., Schneider, J.A., Weissenback, J., Polymerpoulos, M.H., Town, M.H., van't Hoff, W., Farrall, M., Matthew, C.G., Linkage of the gene for cystinosis to markers on the short arm of chromosome17. Nature Genetics .  10, 246-248, 1995.

3.  Town, M., Jean, G., Cherqui, S., Attard, M., Forestier, L., Whitmore, S.A., Callen, D.F., Grivouval, O., Broyer, M., Bates, G.P., van't Hoff, W., Antignac, C. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis. Nature Genetics. 18: 319-324. Apr. 1998

4. Thoene, J.G. Cystinosis. J. Inher. Metab. Dis. 18 :380-386. 1995.

Metabolic Defect/Cystine Transport

1.   Thoene, J.G., Oshima, R.G., Crawhall, J.C., Olson, D.L. and Schneider, J.A. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo. J.Clin.Invest.58:180-189, 1976.

2.   Oshima, R.G., Willis, R.C., Furlong, C.E. and Schneider, J.A. Binding assays for amino acids. The utlization of a cystine binding protein from Escherichia coli for the determination of acid-soluble cystine in small physiological samples. J.Biol.Chem.249:6033-6039, 1974.

3.   Smith, M.L., Furlong, C.E., Greene, A.A. and Scheider, J.A. Cystine: Binding protein assay. Methods in Enzymology143:144-148, 1987.

4.  Gahl, W.A., Schneider, J.A., and Aula, P.P. Lysosomal Transport Disorders: Cystinosis and Sialic Acid Storage Disorders. The Metabolic and Molecular Bases of Inherited Disease,   126:3763-3797. 1992


1.   Broyer, M., Tête, M.J., Guest, G., Berthélémé, J.P., Labrousse, F., Poisson, M. Clinical polymorphism of cystinosis encephalopathy. Results of treatment with cysteamine. J. Inher. Metab. Dis. 19 :65-75 (1996)

2.   Ballantyne, A.O., Scarvie, K.M., Trauner, D.A. Academic achievement in individuals with infantile nephropathic cystinosis. Am. J. Med. Genet. 74:157-161 (1997)

3.  Colah, S., Trauner, D.A., Tactile recognition in infantile nephropathic cystinosis. Dev. Med. Child. Neuro. 39:409-413 (1997)

4.  Scarvie, K.M., Ballantyne, A.O., Trauner, D.A., Visuomotor performance in children with infantile nephropathic cystinosis. Perceptual and Motor Skills 82:67-75 (1996)

5.  Trauner, D.A., Hesselink, J.R., Schneider, J.A., Williams, B.L.H.  MRI study of white matter changes in nephropathic cystinosis. (submitted)

6.  Markusic, D.M., Ballantyne, A.O., Light, M., Trauner, D.A. Behavioral differences in children with nephropathic cystinosis. Annals of Neurology  (40) 2. Aug. 1996.

7.  Trauner, D.A., Chase, C., Scheller, J., Katz, B., Schneider, J.A., Neurologic and cognitive deficits in children with cystinosis. J. of Peds. 112, 6:912-914. June 1988.

8.  Williams, B.L.H., Schneider, J.A., Trauner, D.A., Global intellectual deficits in cystinosis. Am. J. Med. Genet. 49:83-87 (1994).

9.  Nichols, S.L., Press, G.A., Schneider, J.A., Trauner, D.A., Cortical atrophy and cognitive performance in infantile nephropathic cystinosis. Ped. Neur. (6)6:379-381 (1990).

10.  Sarfaty, T.D., Coffey, S.A., Weber-Fox, C.M., Hodge, B.L., Trauner, D.A., Neville, H.J., A neurophysiological analysis of visuospatial attention in children with cystinosis, carrier siblings, and controls. Neuro. 42 (Suppl 3) 278 April 1992.


1.  Schneider, J.A., Katz, B., Melles, R.B., Update on nephropathic cystinosis. Pediatric Nephrology 4:645-653, 1990.

2.  Sonies, B.C., Ekman, E.F., Anderson, H.C., Adamson, M.D., Kaler, S.G., Markello, T.C., Gahl, W.A. Swallowing dysfunction in nephropathic cystinosis. N.Engl.J.Med. , Vol. 323, No.9: 565-570. (Aug., 30 1990)

3.  Clark, K.F., Slymen, D.J., Schneider, J.A., Thoene, J.A, Stetz, S., Gahl, W.A., Bernardini, I., Lew, P.J., Sebring, N.G. A comparative study of indomethacin for treatment of the fanconi syndrome in cystinosis. Journal of Rare Diseases II(6): 5-12, Nov/Dec 1996.

4.   Gahl, W.A., Nephropathic cystinosis. Pediatrics in Review  5.  Theodoropoulos, D.S., Krasnewich, D., Kaiser-Kupfer, M.I., Gahl, W.A. Classic nephropathic cystinosis as an adult disease. JAMA 270(18):2200-2204, 1993.

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