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Lysosomal storage diseases

Nephropathic cystinosis

An inherited disease in which a substance called cystine builds up in the cells and forms crystals. It mainly affects the kidneys and eyes. It begins in infancy.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

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This page is translated from the Turkish original.

This disease is followed through the “Lysosomal storage diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Cystine is one of the building blocks of proteins. In this disease, cystine cannot be carried out of the inside of the cell. It builds up, forms crystals and damages the cells. The kidneys and eyes are affected most.

Which symptoms can occur?

Symptoms usually begin in infancy, after 6 months. There is also a form that begins later, in the teenage years. Without treatment, problems increase over time.

  • Passing a lot of urine and drinking a lot of water (common)
  • Lack of fluids in the body, called dehydration
  • Poor weight gain and short stature (common)
  • Soft, bent bones, called rickets
  • Crystals in the eye and sensitivity to light
  • Decline in kidney function over time
  • Thyroid, muscle and swallowing problems (in later years, sometimes)

How is it diagnosed?

An eye doctor looks for crystals in the eye with a special microscope. The level of cystine in white blood cells is measured in the blood. The diagnosis is confirmed with a genetic test that looks at the CTNS gene.

Treatment and care

There is an approved treatment specific to the disease. This treatment lowers cystine in the cells and works better when started early. There is also an eye drop form for the eyes. Replacing the salts and minerals lost in the urine, drinking plenty of water and nutritional support are important. If needed, dialysis and a kidney transplant are done. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

The disease is passed on through recessive inheritance. The mother and father are usually healthy carriers. For a couple who are both carriers, the chance of having an affected child is 1 in 4 in each pregnancy. Diseases of this kind may be more common in marriages between relatives. Early testing of brothers and sisters is recommended. Genetic counselling is recommended.

Source: MedlinePlus Genetics: Cystinosis · GeneReviews: Cystinosis · NORD: Cystinosis

Key facts

How common is it?
Prevalence: 1-9 per 100 000 (Europe)
How is it inherited?
Autosomal recessive
When does it usually start?
Adolescence, Adulthood, Childhood, Infancy

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

For all rare diseases: Nadir Hastalıklar Federasyonu

Links checked on October 8, 2026.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about Cystinosis

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 5 active interventional studies for this disease. 3 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lysosomal storage diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:213 · ICD-11 5C60.1

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.