诊断

诊断尼曼-匹克病要先全面体检,可查出肝脏或脾脏肿大等先兆预警。医生将仔细询问您的病史并讨论症状和家庭健康史。尼曼-匹克病很罕见,其症状可能和其他疾病症状混淆。诊断手段取决于尼曼-匹克病的类型。

  • A 型或 B 型。专家利用血液或皮肤样本(活组织检查)估量白细胞中的神经磷脂酶数量,从而确定诊断结果。
  • C 型。专家取一小块皮肤样本检查尼曼-匹克病,分析细胞如何移动和储备胆固醇。

也可进行其他检查,如下:

  • 磁共振成像(MRI)。脑磁共振成像可查出脑细胞丢失。但在尼曼-匹克病早期,磁共振成像可能显示正常,因为症状通常出现在脑细胞损失之前。
  • 眼科检查。眼科检查可查出眼球运动困难等尼曼-匹克病体征。
  • 基因检测。血液样本的 DNA 检测可查出导致 A 型、B 型、C 型尼曼-匹克病的特定异常基因。如果家中有成员确定突变,则 DNA 检测可查出所有类型的尼曼-匹克病的携带者(指示病例)。
  • 产前检测。超声波能查明 C 型造成的肝脏和脾脏肿大。羊膜腔穿刺术或绒毛活检术可用于确诊尼曼-匹克病。

治疗

尼曼 - 匹克病目前尚无治愈方法。A 型或 B 型患者无法获得有效的治疗。对于轻度至中度 C 型患者,可以选择一种名为美格鲁特 (Zavesca) 的药物。一项对 92 名 C 型尼曼 - 匹克病患者进行的国际性研究表明,定期服用美格鲁特平均两年后,他们的神经系统症状有所改善。

物理疗法是治疗的重要组成部分,有助于尽可能长时间地保持活动能力。尼曼 - 匹克病患者需要定期看医生,因为病情进展和症状会恶化。

Medicines

For Niemann-Pick disease type B, olipudase alfa-rpcp (Xenpozyme) is an enzyme replacement for missing or low levels of the sphingomyelinase enzyme. This enzyme replacement may help with lung problems and breathing and lessen the size of the liver and spleen. The medicine also may help height growth in children. It does not help with nerve-related symptoms.

Olipudase alfa-rpcp is given through a vein every two weeks.

For people with Niemann-Pick disease type C who have mild to moderate nerve symptoms, a drug called miglustat may be an option. Miglustat is approved for neurological symptoms of Niemann-Pick disease type C in many countries but is not approved by the U.S. Food and Drug Administration for this use in the United States.

Miglustat is a pill that's taken 1 to 3 times a day. Miglustat may slow the worsening of nerve symptoms such as problems with hearing, swallowing and walking. It also may help slow changes in mental health and learning and memory.

Discuss medicines, including possible side effects, with your doctor or other healthcare professional.

Supportive therapies

Therapies for all types of Niemann-Pick disease depend on symptoms and may include:

  • Speech, physical and occupational therapy. Physical therapy and occupational therapy can help keep the ability to move as long as possible. Speech therapy may help with talking and swallowing.
  • Nutrition therapy. This includes special foods that can be added to the diet when swallowing becomes difficult.
  • Oxygen therapy. This can help if the lungs are affected and problems with breathing happen.
  • Treatment of symptoms. Treatments can help with infections, seizures, muscle movements that can't be controlled and sleep problems.

People with Niemann-Pick disease need to see their healthcare professionals regularly, because the disease and its symptoms worsen over time. Research for new treatments is ongoing.

临床试验

探索 Mayo Clinic 的研究 测试新的治疗、干预与检查方法,旨在预防、检测、治疗或控制这种疾病。

妥善处理与支持

If you or your child is diagnosed with Niemann-Pick disease, your family may face challenges and uncertainties. One of the most difficult things about this condition is that it's not possible to predict how health and development will change over time.

You or your child will likely require more care as the condition changes. Ask your healthcare team about supportive resources. Also talk with your healthcare team about when it's time to plan end-of life care.

You may find it helpful to connect with others who are living with Niemann-Pick disease. Depending on your needs, ask for information on organizations that support parents who have children with physical conditions that limit their abilities or who have lost children to such conditions.

Being part of clinical trials may help in the search for effective treatments.

准备您的预约

Signs of Niemann-Pick disease may be noticed before birth. Or you may first share your concerns with a healthcare professional. After an exam, you may be referred to one or more specialists for testing and treatment.

You may want to ask a trusted family member or friend to join you for the appointment. Take someone along who can offer emotional support and can help you remember all of the information.

Here's some information to help you get ready for your first appointment.

What you can do

Before your appointment, make a list of:

  • Any symptoms and how long you've noticed them.
  • Your family's key medical information, including other health conditions.
  • All medicines, vitamins, herbs and other supplements you use, and the doses.
  • Information about your family history, including whether anyone else in your family has Niemann-Pick disease.
  • Questions you want to ask your healthcare professional.

Questions to ask may include:

  • What is likely causing these symptoms?
  • Are there any other possible causes for these symptoms?
  • What kinds of tests are needed to make a diagnosis?
  • Should I see a specialist?

Questions to ask if you're referred to a specialist include:

  • Is this Niemann-Pick disease?
  • What are the treatment options for this condition?
  • What treatments do you suggest?
  • What are the possible complications of this condition?
  • Are regular healthcare appointments needed? How often?
  • Are my other children or family members at higher risk of this condition?
  • Should family members be tested for the gene changes that can cause this condition?
  • What other specialists do you suggest seeing?
  • Are there any clinical trials that might be helpful for this condition?
  • What suggestions do you have for coping with this condition?
  • How can I find other families who are living with Niemann-Pick disease?
  • Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions during your appointment.

What to expect from your doctor

Questions from your healthcare professional may include:

  • What are your or your child's symptoms?
  • When did you first notice these symptoms?
  • Have the symptoms changed over time?
  • Does your child's development seem delayed compared with that of other children who are the same age?
  • Are there things that your child used to be able to do but can no longer do?
  • Have any blood relatives — such as a parent or sibling — been diagnosed with Niemann-Pick disease or had symptoms without ever being diagnosed?

Be ready to answer questions so you have time to discuss what's most important to you.

在 Mayo Clinic 治疗

Jan. 25, 2018
  1. Patterson MC. Overview of Niemann-Pick disease. http://www.uptodate.com/home. Accessed Oct. 31, 2016.
  2. Patterson MC, et al. Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study. Orphanet Journal of Rare Diseases. 2015;10:65. http://ojrd.biomedcentral.com/articles/10.1186/s13023-015-0284-z. Accessed Oct. 31, 2016.
  3. Niemann-Pick disease. Merck Manual Professional Version. https://www.merckmanuals.com/professional/pediatrics/inheriteddisordersofmetabolism/Niemannpickdisease. Accessed Oct. 31, 2016.

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