Cystinuria

Also known as

  • patients are referred to as Cystinurics

An inherited metabolic disorder characterised by too much of the amino acid cystine in the urine, which is insoluble causing cystine stones. Unlike regular stones, cystine stones are usually very hard and maybe resistant to some forms of treatment. Sometimes medications are required to control the disease. However the first step is to ensure a high fluid intake to keep the urine dilute.

Condition details

Very rare type (1% of all stones) of recurrent kidney stones (made from cystine). If a stone moves and blocks the kidney is can cause severe pain (known as renal colic). Patients with cystinuria and prone to recurring stones. Although it is not a life threatening condition (unless there is serious damage to the kidneys etc) there is no cure for it. Cystine is an amino acid, which is a ‘building block’ of protein in the body. People who suffer from cystinuria have a problem with the transport of cystine in the kidney. This leads to a build up of cystine in the urine, which if the levels are high enough can form crystals - these then enlarge and become stones. However with good advice and management, patients can lead normal lives.

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Photos of affected individuals

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  • No baby imageBaby
  • No toddler imageToddler
  • No child 4-10 imageChild 4-10
  • No child 10-18 imageChild 10-18
  • No adult imageAdult

Typical age range of first manifestation

  • Does not manifest in Baby
  • Can manifest in Toddler
  • Can manifest in Child 4-10
  • Can manifest in Child 10-18
  • Can manifest in Adult

Symptoms

Toddler
Lay terms Clinical terms
  • kidney infections unexplained pain
  • recurrent urinary infection failure to thrive
Child 4-10
Lay terms Clinical terms
  • recurring kidney pain passing stones
  • renal pain renal colic
Child 10-18
Lay terms Clinical terms
  • recurring kidney pain passing stones
  • renal pain renal colic
Adult
Lay terms Clinical terms
  • recurring kidney pain passing stones
  • renal pain renal colic

Affected genes identified to date

  • SLC3A1
  • SLC7A9

Inheritance patterns

Is Autosomal recessive

Are carriers affected?

No not usually but can have mildly raised levels of cystine in urine

How many are affected?

Approximately 1 in 2000 in the UK

Support groups and organisations

Cystinuria UK
Tel
Facebook

Known experts

No experts found

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