Cystinosis

Codes

IDC-10: E72.0A

ORPHA: 213

Report from the Questionnaire Report from the Observation Chart

General information

Estimated occurrence
1:160,000 - 200,000 live births.
Cause
Cystinosis is caused by a mutation in the so-called CTNS gene on chromosome 17. This mutation causes an amino acid, cystine, to accumulate in the lysosomes of the cells. This high concentration of cystine is harmful and causes cell function to deteriorate and/or causes cells to die. Certain organs such as the kidneys, the eyes and thyroid, are particularly sensitive to elevated levels of cystine. The disorder is inherited autosomal recessively.
General symptoms
There are three forms of the condition: Nephropathic cystinosis (also called infantile), intermediate cystinosis (a juvenile form) and the third form, nonnephropathic cystinosis occurs exclusively in adults. The children are born healthy and appear generally normal during the first months. Impaired kidney function eventually leads to severe kidney failure. Excessive urination and thirst commonly lead to evaluation and diagnosis. Kidney damage may result in the need for dialysis or kidney transplantation. The electrolyte balance is affected. The eyes and vision may be affected by storage of cystine crystals in the cornea and retina. Growth disorders are common as well as weak muscles. The function of the thyroid gland may be impaired (hypothyroidism) and puberty may be delayed and/or stop. In non-nephropathic cystinosis the only symptoms are from the eyes. Today, cystinosis may be treated with medications (Cysteamine®, Cystagon). Treatment may also be required in the form of thyroid hormones, growth hormones and sex hormones as well as ensuring that the child receives adequate amounts of fluids, electrolytes and nutrition. Many have very high energy requirements, which means that they need to eat a lot and often.

Orofacial/odontological symptoms

Sucking, chewing and swallowing difficulties occur. Enteral feeding is common and sometimes necessary to ensure that the child’s nutritional requirements are met. Sometimes white spots on the dental enamel can be seen.

Advice on follow-up and treatment

  • Early contact with dental services for intensified prophylactic care and oral hygiene information is essential.
  • Dental development is checked up by dentist who is familiar with deviating growth pattern and as need arises consult orthodontist.
  • Feeding and swallowing difficulties are investigated and treated by a specialist team at the hospital or multidisciplinary treatment center.

Sources

Rare diseases
Updated: 0001-01-01 00:00