A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade
المؤلفون المشاركون
Konjeti, Venkata Rajesh
Al-Khafaji, Jawad
Ganz-Lord, Fran
Viny, Aaron D.
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-5، 5ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-04-01
دولة النشر
مصر
عدد الصفحات
5
التخصصات الرئيسية
الملخص EN
Familial Mediterranean fever (FMF) is an inherited disease caused by loss of function mutations in the MEFV gene encoding pyrin, a negative regulator of interleukin-1.
The disease is characterized by recurrent fever and self-limited attacks of joint, chest, and abdominal pain but lymphadenopathy is an infrequent manifestation.
While mesenteric lymphadenopathy has been described in several cases in the literature; hilar, paratracheal, axillary, pelvic, and retroperitoneal lymphadenopathy are extremely rare and have been reported separately in very few individuals.
In this report, we present a patient with late-onset FMF with extensive lymphadenopathy in all of the aforementioned anatomic regions.
Genetic analysis identified three heterozygous pyrin mutations in a patient with no affected family members.
Genetic investigation of the patient’s mother identified a novel carrier haplotype E148Q/P369S.
The proband also inherited the previously described and rare A744S mutation previously not thought to be a disease-defining lesion.
This unique compound heterozygous genotype resulted in a novel genotype-phenotype association producing an atypical clinical presentation of FMF that fits within the pattern of several case reports of late-onset disease with respect to clinical course and therapeutic response.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Al-Khafaji, Jawad& Ganz-Lord, Fran& Konjeti, Venkata Rajesh& Viny, Aaron D.. 2018. A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade. Case Reports in Rheumatology،Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1149912
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Al-Khafaji, Jawad…[et al.]. A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade. Case Reports in Rheumatology No. 2018 (2018), pp.1-5.
https://search.emarefa.net/detail/BIM-1149912
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Al-Khafaji, Jawad& Ganz-Lord, Fran& Konjeti, Venkata Rajesh& Viny, Aaron D.. A Case of Familial Mediterranean Fever with Extensive Lymphadenopathy and Complex Heterozygous Genotype Presenting in the Fourth Decade. Case Reports in Rheumatology. 2018. Vol. 2018, no. 2018, pp.1-5.
https://search.emarefa.net/detail/BIM-1149912
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1149912
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