Development of Fanconi syndrome during infancy in a patient with cystinosis [2]

Acta Paediatrica, International Journal of Paediatrics

Volumn 95, Issue 3, 2006, Pages 379-380

  Levtchenko, Elena ^a   Monnens, Leo ^a  

^a Department of Pediatric Nephrology ^*  (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CTNS PROTEIN; CYSTINE; MERCAPTAMINE; PROTEIN; UNCLASSIFIED DRUG;

AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL FEATURE; CYSTINOSIS; FANCONI RENOTUBULAR SYNDROME; GENE DELETION; HUMAN; INFANT; LETTER; LYSOSOME STORAGE DISEASE; MALE; PATHOGENESIS; PRIORITY JOURNAL; SYMPTOM;

CYSTEAMINE; CYSTINOSIS; FANCONI SYNDROME; HUMANS; INFANT; MALE; RENAL AGENTS;

EID: 33644584913     PISSN: 08035253     EISSN: None     Source Type: Journal    
DOI: 10.1080/08035250500369601     Document Type: Letter

References (6)

1. Gahl WA, Thoene JG, Schneider JA. Cystinosis. N Engl J Med 2002;347:111-21.
2. Baum M. The Fanconi syndrome of cystinosis: insights into the pathophysiology. Pediatr Nephrol 1998;12:492-7.
3. Levtchenko E, de Graaf-Hess A, Wilmer M, van den Heuvel L, Monnens L, Blom H. Comparison of cystine determination in mixed leukocytes vs polymorphonuclear leukocytes for diagnosis of cystinosis and monitoring of cysteamine therapy. Clin Chem 2004;50:1686-8.
4. Brodehl J, Hagge W, Gellissen K. Changes in kidney function in cystinosis. I. Inulin, PAH and electrolyte clearance in various stages of the disease. Ann Paediatr 1965;205:131-54.
5. Hagge W, Brodehl J. Changes of renal function in cystinosis. II. Aminoacid clearances. Ann Paediatr 1965;205:442-60.
6. Laube GF, Haq MR, van't Hoff WG. Exfoliated human proximal tubular cells: a model of cystinosis and Fanconi syndrome. Pediatr Nephrol 2005;20:136-40.