Cystinosis. A clinicopathological conference. 'From toddlers to twenties and beyond' Adult-Paediatric Nephrology Interface Meeting, Manchester 2001

Nephrology Dialysis Transplantation

Volumn 18, Issue 12, 2003, Pages 2492-2495

  Middleton, Rachel ^a   Bradbury, Mark ^b   Webb, Nicholas ^b   O'Donoghue, Donal ^a   Van't Hoff, William ^c  

^a HOPE HOSPITAL   (United Kingdom)

^b ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

Cystinosis; Fanconi syndrome; Lysosome; Paediatric renal failure

Indexed keywords

ALFACALCIDOL; CARBONIC ACID; CYSTAFOS; CYSTINE; ENALAPRIL; GLUTEN; INDOMETACIN; MERCAPTAMINE; PHOSPHATE;

ARTICLE; CASE REPORT; CELIAC DISEASE; CYSTINOSIS; DISEASE COURSE; DUODENUM BIOPSY; FAILURE TO THRIVE; FAMILY HISTORY; FANCONI RENOTUBULAR SYNDROME; FEMALE; GENE MUTATION; GENETIC PREDISPOSITION; GLUTEN FREE DIET; HUMAN; INFANT; LABORATORY TEST; MALE; PATHOGENESIS; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CYSTINOSIS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE;

EID: 0344034275     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/gfg445     Document Type: Article

References (13)

1. Gahl WA, Tietze F, Bashan N, Bernadini I, Raiford D, Schulman JD. Characteristics of cystine counter-transport in normal and cystinotic lysosome-rich leucocyte granular fractions. Biochem J 1983; 216: 393-400
2. Sakarcan A, Timmons C, Baum M. Intracellular distribution of cystine in cystine-loaded proximal tubules. Paediatr Res 1990; 35: 447-450
3. Salmon RF, Baum M. Intracellular cystine loading inhibits transport in the rabbit proximal convoluted tubule. J Clin Invest 1990; 85: 340-344
4. Coor C, Salmon RF, Quigley R, Marver D, Baum M. Role of adenosine triphosphate (ATP) and NaKATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J Clin Invest 1991; 87: 955-961
5. Foreman JW, Benson JL. Effect of cystine loading and cystine dimethyl ester on renal brush border membrane transport. Paediatr Nephrol 1990; 4: 236-239
6. Coor C, Salmon RF, Quigley R, Marver D, Baum D. Role of adenosine triphosphate and NAK ATPase in the inhibition of proximal tubule transport with intracellular cystine loading. J Clin Invest 1991; 87: 955-961
7. Sakarcan A, Arichetta R, Baum M. Intracellular cystine loading causes proximal tubule respiratory dysfunction; effect of glycine. Paediatr Res 1992; 32: 710-713
8. Haq S, van't Hoff W. Cellular dysfunction in cystinosis. In: Broyer M, ed. Cystinosis. Elsevier, 1999; 14-19
9. Rizzo C, Ribes A, Pastore A et al. Pyroglutamic aciduria and nephropathic cystinosis. J Inher Metab Dis 1999; 22: 224-226
10. Broyer M, Tête MJ. Complications tardives de la cysinose. A propos de 33 cas ayant dépassé 18 ans. Ann Paediatr 1995; 42: 635-642
11. Broyer M, Tête MJ, Gubler MC. Late symptoms in infantile cystinosis. Paediatr Nephrol 1987; 1: 519-524
12. Wenner WJ, Murphy JL. The effects of cysteamine on the upper gastrointestinal tract of children with cystinosis. Pediatr Nephrol 1997; 11: 600-603
13. Markello TC, Bernadini IM, Gahl WA. Improved renal function in children with cystinosis treated with cysteamine. N Engl J Med 1993; 328: 1157-1162