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Early proximal tubular dysfunction in Lowe’s syndrome
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  1. G F Laube1,
  2. I M Russell-Eggitt2,
  3. W G van’t Hoff1
  1. 1Nephrourology Unit, Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
  2. 2Ophthalmology Unit, Institute of Child Health and Great Ormond Street Hospital for Children, London, UK
  1. Correspondence to:
    Dr W G van’t Hoff
    Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; vanthwgosh.nhs.uk

Abstract

The early diagnosis of Lowe’s syndrome can be difficult. Urinary excretion of retinol binding protein (RBP) and the lysosomal enzyme N-acetyl-glucosaminidase (NAG) were significantly increased in boys with Lowe’s syndrome. Measurement of these urine parameters is recommended in suspected cases.

  • Lowe’s syndrome
  • renal fanconi syndrome
  • congenital cataracts
  • retinol binding protein
  • low molecular weight proteins

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Footnotes

  • Enquiries about availability of urine RBP and NAG levels should be made to the duty Clinical Biochemist, Department of Biochemistry, Camelia Botnar Laboratories, Great Ormond Street Hospital, Great Ormond Street, London WC1N 3JH, UK; tel: ++44 (0)20 7405 9200, bleep 589.

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