Cystinosis: Multimedia

References

1. Nesterova G, Gahl W. Nephropathic cystinosis: late complications of a multisystemic disease. Pediatr Nephrol. Jun 2008;23(6):863-78. [Medline].

2. [Guideline] Scottish Intercollegiate Guidelines Network (SIGN). Diagnosis and management of chronic kidney disease. A national clinical guideline. Edinburgh (Scotland): Scottish Intercollegiate Guidelines Network (SIGN); 2008. [Full Text].

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4. Almond PS, Matas AJ, Nakhleh RE. Renal transplantation for infantile cystinosis: long-term follow-up. J Pediatr Surg. Feb 1993;28(2):232-8. [Medline].

5. Baum M. The Fanconi syndrome of cystinosis: insights into the pathophysiology. Pediatr Nephrol. Aug 1998;12(6):492-7. [Medline].

6. Bendavid C, Kleta R, Long R, et al. FISH diagnosis of the common 57-kb deletion in CTNS causing cystinosis. Hum Genet. Nov 2004;115(6):510-4. [Medline].

7. Dohil R, Newbury RO, Sellers ZM, et al. The evaluation and treatment of gastrointestinal disease in children with cystinosis receiving cysteamine. J Pediatr. Aug 2003;143(2):224-30. [Medline].

8. Elenberg E, Norling LL, Kleinman RE, Ingelfinger JR. Feeding problems in cystinosis. Pediatr Nephrol. Jun 1998;12(5):365-70. [Medline].

9. Facts and Comparisons. Cysteamine bitartrate. In: Drug Facts and Comparisons. 5^th ed. St. Louis, MO: Facts and Comparisons; 2000:590-1.

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17. Levtchenko EN, van Dael CM, de Graaf-Hess AC, Wilmer MJ, van den Heuvel LP, Monnens LA. Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis. Pediatr Nephrol. Jan 2006;21(1):110-3. [Medline].

18. Markello TC, Bernardini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med. Apr 22 1993;328(16):1157-62. [Medline].

19. Saleem MA, Milford DV, Alton H, et al. Hypercalciuria and ultrasound abnormalities in children with cystinosis. Pediatr Nephrol. Feb 1995;9(1):45-7. [Medline].

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21. Smolin LA, Clark KF, Schneider JA. An improved method for heterozygote detection of cystinosis, using polymorphonuclear leukocytes. Am J Hum Genet. Aug 1987;41(2):266-75. [Medline].

22. 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 (Baltimore). May 2005;84(3):137-46. [Medline].

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26. Wuhl E, Haffner D, Gretz N, et al. Treatment with recombinant human growth hormone in short children with nephropathic cystinosis: no evidence for increased deterioration rate of renal function. The European Study Group on Growth Hormone Treatment in Short Children with Nephropathic Cy. Pediatr Res. Apr 1998;43(4 Pt 1):484-8. [Medline].

27. Wuhl E, Haffner D, Offner G, et al. Long-term treatment with growth hormone in short children with nephropathic cystinosis. J Pediatr. Jun 2001;138(6):880-7. [Medline].

Further Reading

Keywords

cystinosis, cystine storage disease, Fanconi syndrome, infantile cystinosis, infantile nephropathic cystinosis, adolescent cystinosis, adult cystinosis, ocular cystinosis, end-stage kidney failure, cysteine, metabolic acidosis, electrolyte disturbances, renal transplantation, ocular cystinosis, polyuria, polydipsia, dehydration, normal anion gap hyperchloremic acidosis, hypophosphatemic rickets, failure to thrive, severe photophobia, corneal ulcerations, retinal blindness, delayed puberty, hypothyroidism, pancreatic disease, exocrine insufficiency, insulin-dependent diabetes mellitus, hepatosplenomegaly, nodular degenerative hyperplasia, distal vacuolar myopathy, calcifications, atrophy, pseudotumor cerebri, polydipsia, polyuria, renal tubular abnormalities

Contributor Information and Disclosures

Author

Ewa Elenberg, MD, Assistant Professor, Department of Pediatrics, Renal Section, Texas Children's Hospital, Baylor College of Medicine
Ewa Elenberg, MD is a member of the following medical societies: American Academy of Pediatrics, American Medical Association, and American Society of Nephrology
Disclosure: Nothing to disclose.

Medical Editor

Uri S Alon, MD, Director of Research and Education, Department of Pediatrics, Division of Pediatric Nephrology, Children's Mercy Hospital of Kansas City; Professor, University of Missouri at Kansas City
Uri S Alon, MD is a member of the following medical societies: American Federation for Medical Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from financial planner; Avanir Pharma Stock Investment from financial planner ; WebMD Salary and stock Employment and investment from financial planner

Managing Editor

Adrian Spitzer, MD, Professor, Department of Pediatrics, Albert Einstein College of Medicine; Director of NIH Training Program, Children's Hospital at Montefiore Medical Center
Adrian Spitzer, MD is a member of the following medical societies: American Academy of Pediatrics, American Federation for Medical Research, American Pediatric Society, American Society of Nephrology, American Society of Pediatric Nephrology, International Society of Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

CME Editor

Howard Trachtman, MD, Program Director, Pediatrics Research, Schneider Children's Hospital, Department of Pediatrics, Division of Nephrology, Professor, Albert Einstein College of Medicine
Howard Trachtman, MD is a member of the following medical societies: American Society of Hypertension, American Society of Nephrology, American Society of Pediatric Nephrology, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Chief Editor

Craig B Langman, MD, The Isaac A Abt, MD, Professor of Kidney Diseases, Feinberg School of Medicine, Northwestern University; Division Head of Kidney Diseases, Children's Memorial Hospital, Chicago
Craig B Langman, MD is a member of the following medical societies: American Academy of Pediatrics, American Society of Nephrology, and International Society of Nephrology
Disclosure: Amgen Grant/research funds None; Altus Pharmaceuticals Grant/research funds None; Genzyme Grant/research funds None; Merck Grant/research funds None; NIH Grant/research funds None