﻿ Cystinuria: Facts on Symptoms of This Inherited Disease


Cystinuria facts

  • Cystinuria is a relatively common inherited disorder.
  • The disorder is due to a defect in the transport of amino acids including one called cystine.
  • Cystinuria features too much cystine in the urine.
  • Cystine is highly insoluble, precipitates out of solution and forms stones in the urine.
  • All the signs and symptoms of cystinuria are due to the stones.
  • The stones cause blood in the urine, pain, and obstruction and infection of the urinary tract.
  • The foremost aim of treatment is to prevent the formation of cystine stones.
  • Cystine stones can often be dissolved and new ones prevented by a high fluid intake.
  • People with cystinuria should understand that "for them, water is a necessary drug."

What is cystinuria?

Cystinuria is an inherited (genetic) disorder of the transport of an amino acid (a building block of protein) called cystine resulting in cystinuria (an excess of cystine in the urine) and the formation of cystine stones.

How frequent is cystinuria?

Cystinuria is one of the more common genetic disorders. Its overall prevalence is about 1 in 7,000 in the population.

Cystinuria is the most common defect known in the transport of an amino acid.

What is a transport defect?



Medically Reviewed by a Doctor on 6/10/2015

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