﻿ 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 f