نيمان-بيك

التشخيص

تبدأ عملية تشخيص داء نيمان-بيك من خلال إجراء فحص جسدي، ويمكنه إظهار العلامات التحذيرية المبكرة مثل تضخم الكبد أو الطحال. كما سيأخذ طبيبك تاريخك الطبي بالتفصيل، وسيناقش الأعراض والتاريخ الصحي للعائلة. إن داء نيمان-بيك نادر الحدوث، وقد يتم تفسير أعراضه على أنها أعراض لأمراض أخرى عن طريق الخطأ. تعتمد أساليب التشخيص على نوع داء نيمان-بيك.

• النوع (أ) أو (ب) يقيس المتخصصون كمية إنزيم السفينجومياليناز في خلايا الدم البيضاء لتأكيد التشخيص، وذلك باستخدام عينة من الدم أو الجلد (خزعة).
• النوع (ج) يأخذ المتخصصون عينة صغيرة من الجلد لاختبار داء نيمان-بيك من أجل تقييم طريقة انتقال الخلايا وتخزينها للكوليسترول.

قد يتم إجراء اختبارات أخرى أيضًا، مثل:

• التصوير بالرنين المغناطيسي (MRI). قد يُظهر التصوير بالرنين المغناطيسي فقدانًا في خلايا المخ. ولكن في المراحل المبكرة من داء نيمان-بيك، قد يكون التصوير بالرنين المغناطيسي طبيعيًا لأنه عادةً ما تحدث الأعراض قبل فقدان خلايا المخ.
• فحص العين. يمكن لفحص العين إظهار علامات قد تشير إلى الإصابة بداء نيمان-بيك، مثل صعوبة تحرك العين.
• الفحوص الجينية. ربما يبين اختبار الحمض النووي لعينة الدم الجينات غير الطبيعية المعينة والتي تتسبب في الإصابة بداء نيمان-بيك بأنواع (أ) و(ب) و(ج). ويمكن لاختبارات الحمض النووي أن تُبين الأشخاص حاملي داء نيمان-بيك بكل أنواعه، إذا تم وصف الطفرات التي تم التعرف عليها في أول شخص في العائلة (الحالة الدالة)
• الفحوص السابقة للولادة: يمكن للفحص بالموجات الصوتية أن يكشف عن تضخم الكبد والطحال الناتجين عن النوع (ج). وربما يتم استخدام عينات من بزل السلى أو الخلايا المشيمة للتأكيد على التشخيص بداء نيمان-بيك.

العلاج

لا يوجد علاج لمرض نيمان-بيك. لا يتوفر علاج فعّال لمعالجة الأشخاص المصابين بالمرض من النوع أ أو ب. أما الأشخاص الذين يعانون من النوع ج بدرجة طفيفة إلى معتدلة، فيُمكن تناول عقار يُسمى ميجلوستات (زافيسكا) كأحد الخيارات المتاحة للعلاج. وأظهرت دراسة عالمية تضم مجموعة من 92 شخصًا مصابين بالنوع ج من مرض نيمان-بيك تحسُّن الأعراض العصبية بعد تناول عقار ميجلوستات بانتظام لمدة عامين في المتوسط.

يعتبر العلاج الطبيعي جزءًا مهمًا من العلاج للمساعدة في الحفاظ على الحركة بقدر المستطاع. ويحتاج الأشخاص المصابون بمرض نيمان-بيك إلى رؤية أطبائهم بانتظام، لأن المرض يتطوَّر والأعراض تزداد سوءًا.

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.

التجارب السريرية

استكشِف دراسات مايو كلينك حول التطورات الجديدة في مجال العلاجات والتدخلات الطبية والاختبارات المستخدمة للوقاية من هذه الحالة الصحية وعلاجها وإدارتها.

التأقلم والدعم

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.

الاستعداد لموعدك

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.