Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician
المؤلف
المصدر
International Journal of Pediatrics
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-02-16
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Niemann-Pick disease (NP-C) is a lysosomal storage disease in which impaired intracellular lipid transport leads to accumulation of cholesterol and glycosphingolipids in various neurovisceral tissues.
It is an autosomal recessive disorder, caused by mutations in the NPC1 or NPC2 genes.
The clinical spectrum is grouped by the age of onset and onset of neurological manifestation: pre/perinatal; early infantile; late infantile; and juvenile periods.
The NP-C Suspicion Index (SI) screening tool was developed to identify suspected patients with this disease.
It is especially good at recognizing the disease in patients older than four years of age.
Biochemical tests involving genetic markers and Filipin staining of skin fibroblast are being employed to assist diagnosis.
Therapy is mostly supportive and since 2009, the first specific therapy approved for use was Miglustat (Zavesca) aimed at stabilizing the rate of progression of neurological manifestation.
The prognosis correlates with age at onset of neurological signs; patients with early onset form progress faster.
The NP-C disease has heterogeneous neurovisceral manifestations.
A SI is a screening tool that helps in diagnostic process.
Filipin staining test is a specific biomarker diagnostic test.
Miglustat is the first disease-specific therapy.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Alobaidy, Hanna. 2015. Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician. International Journal of Pediatrics،Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1066704
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Alobaidy, Hanna. Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician. International Journal of Pediatrics No. 2015 (2015), pp.1-10.
https://search.emarefa.net/detail/BIM-1066704
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Alobaidy, Hanna. Recent Advances in the Diagnosis and Treatment of Niemann-Pick Disease Type C in Children: A Guide to Early Diagnosis for the General Pediatrician. International Journal of Pediatrics. 2015. Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1066704
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1066704
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر