Cystinosis

概述

What is cystinosis?

Cystinosis is a rare, genetic disease caused by a buildup of the amino acid cystine in the body. This buildup causes crystals to form in cells and slowly causes organ damage. It can affect many parts of the body, including the eyes, muscles, brain, heart, thyroid and pancreas. Cystinosis can also cause severe kidney problems. The age of onset, symptoms and severity vary by individual.

Generally, cystinosis is broken down into three different forms known as infantile (nephropathic) cystinosis, juvenile cystinosis and adult (non-nephropathic, or ocular) cystinosis. Infantile cystinosis appears in infancy, usually between 6 and 18 months. It is the most common and severe form of cystinosis, affecting about 95% of patients, many who develop kidney problems. Infants with nephropathic cystinosis can develop Fanconi syndrome, a disorder that prevents the kidneys from absorbing nutrients such as sodium and potassium, resulting in the loss of these nutrients through urine. Without proper treatment, patients are at risk for worsening kidney disease, and even kidney failure.

How common is cystinosis?

Cystinosis affects 500 to 600 people in the United States, with an estimated 20 new cases diagnosed each year. The disease impacts an estimated 2,000 worldwide.

Questions regarding your cystinosis therapy?

You can reach the Accredo Cystinosis care team, anytime, day or night, seven days a week.

24 小时客户服务中心

Call 844-404-7848

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症状

What are the symptoms of cystinosis?

Infantile (nephropathic) cystinosis symptoms generally appear between the ages of 6 and 18 months and may include:

  • Excessive thirst (polydipsia)
  • Excessive urination (polyuria)
  • Electrolyte imbalances
  • 呕吐
  • Dehydration
  • 发热
  • Rickets
  • Growth delay/failure to thrive
  • Scarred or cloudy corneas
  • Light sensitivity (photophobia)
  • Vision loss
  • Difficulty swallowing (dysphagia)

Juvenile cystinosis symptoms are similar to infantile cystinosis. They appear later in childhood or during adolescence and tend to be less severe. Other common symptoms of late-onset cystinosis may include:

  • 疲劳
  • Muscle weakness
  • Myopathy
  • Short stature
  • 青春期延迟
  • 不孕症

Adult (non-nephropathic) cystinosis typically only affects the eyes and does not have the associated kidney or other organ involvement. The most common symptom of cystine accumulation in the eye is photophobia, although other symptoms such as foreign body sensation, visual impairment, and uncontrollable eyelid movements (blepharospasm) are possible.

如何诊断？

A diagnosis of cystinosis is based on several methods including a physical examination, a detailed patient history, and a variety of specialized tests.

  • A blood test can measure cystine levels in your white blood cells.
  • Genetic testing can identify genetic mutations in the CTNS gene.
  • A urinalysis can detect excess loss of minerals, nutrients, electrolytes and amino acids.
  • An eye exam can reveal cystine crystals in the cornea. An ophthalmologist uses a special microscope called a slit lamp to examine the eyes at high magnification.

A prompt diagnosis of cystinosis is important to maximize the benefits of cysteine-depleting medications.

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药品

The following specialty medications are available at Accredo, a specialty pharmacy for Cystinosis.

药品 生产商
Procysbi™（半胱胺重酒石酸氢盐） Horizon Pharma, Inc

节约护理费用

您还可获得财政资源援助，以承担您的部分药品费用，包括生产商和社区计划。Accredo 专家可以帮助您找到适合您的计划。

财政指导

查找支持

There are many organizations that support research and advocacy for Cystinosis. 下面是其中部分组织。

支持组织

团队介绍

Accredo’s rare disease care team is dedicated to serving you, and we understand the complexity of your condition. 我们的特殊培训临床医师每周 7 天、每天 24 小时为您提供服务，以回答您的任何问题。

Why We Do It video transcript

24 小时客户服务中心

Call 844-404-7848