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Nephrol Dial Transplant (2003) 18: 2492-2495
© 2003 European Renal Association-European Dialysis and Transplant Association

Child-Adult Interface

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

Rachel Middleton1, Mark Bradbury2, Nicholas Webb2, Donal O'Donoghue1 and William Van’t Hoff3

1Department of Renal Medicine, Hope Hospital, Salford, 2Department of Paediatric Nephrology, Manchester Children’s Hospital, Manchester and 3Department of Paediatric Nephrology, Great Ormond Street Hospital for Sick Children, London, UK

Correspondence and offprint requests: Dr Rachel Middleton, Specialist Registrar in Nephrology, Hope Hospital, Stott Lane, Salford, Manchester, M6 8HD, UK. Email: rachel_middleton@talk21.com

Keywords: cystinosis; Fanconi syndrome; lysosome; paediatric renal failure

The first 150 words of the full text of this article appear below.



   Case 1
 
In November 1994 a 2-year 8-month-old girl presented with failure to thrive. She was the second child; her parents were first cousins. There was no significant family history other than an uncle with coeliac disease. She was below the 3rd centile for height and weight, and had evidence of rickets on clinical examination. Initial investigations found; haemoglobin (Hb) 12.3 g/dl, white blood cells (WBC) 11.4 x 10–9/l, platelets 309 x 10–9/l, Na+ 134 mmol/l, K+ 2.7 mmol/l, urea 3.1 mmol/l, creatinine 36 µmol/l, bicarbonate 14 mmol/l, albumin 35 g/l, ALP 2748 IU/l, calcium 2.36 mmol/l, phosphate 0.43 mmol/l and PTH 5.9 pmol/l (normal range 1.3–8.5). Urine dipstick revealed +glucose. Urine amino acid chromatography showed marked generalized aminoaciduria consistent with Fanconi syndrome. WBC cystine quantification was 2.24 nmol/1/2 cystine/mg protein. X-ray of hands, wrists and knees revealed florid changes of rickets. Ophthalmology slit lamp examination showed corneal cystine crystals.

. . . [Full Text of this Article]



   Case 2
 


   Case 3
 


   Cystinosis: a commentary
 


   Genetics
 


   Pathogenesis
 


   Diagnosis
 


   Clinical course
 


   Treatment
 


   Conclusion
 

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