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Acute paediatrics
Early proximal tubular dysfunction in Lowe’s syndrome

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

https://doi.org/10.1136/adc.2003.031187

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