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Blue diaper syndrome

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Blue diaper syndrome (BDS) (Online Mendelian Inheritance in Man number 211000) (Drummond's syndrome)

  • an extremely rare disorder that was first described in 1964

  • characteristic finding is a bluish discoloration of urine spots in the diapers of affected infants

  • additional clinical features described patients included diarrhoea, inadequate weight gain, hypercalcaemia, and nephrocalcinosis

Aetiology:

  • postulated that due to an intestinal defect of tryptophan absorption
    • however, functional evidence for this theory is lacking
  • there has been no genetic cause yet identified

Reference:

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