clinical features

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Infants may present with failure to thrive and repeated vomiting.

Adults present with:

  • weakness due to hypokalaemia
  • acute acidosis and hyperventilation
  • bone pain (rickets or osteomalacia)
  • renal stone disease
  • recurrent urinary tract infections
  • renal failure is a late manifestation (and is preventable)

Last reviewed 01/2018