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Cystinosis

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to William A. Gahl, MD, PhD, Clinical Director, National Human Genome Research Institute, Director, NIH Undiagnosed Diseases Program, National Institutes of Health, for assistance in the preparation of this report.

Synonyms of Cystinosis

  • No synonyms found.

Disorder Subdivisions

  • infantile nephropathic cystinosis
  • intermediate cystinosis
  • non-nephropathic cystinosis

General Discussion

Summary
Cystinosis is a rare, multisystem genetic disorder characterized by the accumulation of an amino acid called cystine in different tissues and organs of the body including the kidneys, eyes, muscles, liver, pancreas and brain. Generally, cystinosis is broken down into three different forms known as nephropathic cystinosis, intermediate cystinosis and non-nephropathic (or ocular) cystinosis. The age of onset, symptoms, and severity of cystinosis can vary greatly from one person to another. Nephropathic cystinosis presents in infancy and is the most common and severe form. Early detection and prompt treatment are critical in slowing the development and progression of symptoms associated with cystinosis. The kidneys and eyes are the two organs most often affected. Individuals with nephropathic or intermediate cystinosis ultimately require a kidney transplant. Non-nephropathic cystinosis only affects the corneas of the eyes. Cystinosis is caused by mutations of the CTNS gene and is inherited as an autosomal recessive disease.

Introduction
Cystinosis was first described in the medical literature in 1903 by Abderhalden. Cystinosis is classified as a lysosomal storage disorder. Lysosomes are membrane bound compartments within cells that break down certain nutrients such as fats, proteins and carbohydrates. Lysosomes are the primary digestive unit within cells. Some enzymes within lysosomes break down (metabolize) these nutrients, while other enzymes transport the leftover metabolic products (such as cystine) out of the lysosome. The lack of such a specific transporter causes cystine to accumulate in lysosomes in cells throughout the body. Cystine forms crystals (crystallizes) in many types of cells and slowly damages affected organs.

Organizations related to Cystinosis

NORD offers an online community for this rare disease. RareConnect was created by EURORDIS (European Rare Disease Organisation) and NORD (National Organization for Rare Disorders) to provide a safe space where individuals and families affected by rare diseases can connect with each other, share vital experiences, and find helpful information and resources. You can view these international, rare disease communities at www.rareconnect.org.

The information in NORD’s Rare Disease Database is for educational purposes only. It should never be used for diagnostic or treatment purposes. If you have questions regarding a medical condition, always seek the advice of your physician or other qualified health professional. NORD’s reports provide a brief overview of rare diseases. For more specific information, we encourage you to contact your personal physician or the agencies listed as “Resources” on this report.

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