Autosomal Dominant Alport's Syndrome : study of a large Tunisian family
المؤلفون المشاركون
Hachicha, Jamil
Charfeddine, K.
Kammoun, K.
Kharrat, M.
Jarraya, F.
Makni, S.
Makni, K.
Azaeiz, H.
Bin Hamidah, M.
Gubler, M. C.
Ayyadi, H.
المصدر
Saudi Journal of Kidney Diseases and Transplantation
العدد
المجلد 17، العدد 3 (30 يونيو/حزيران 2006)، ص ص. 320-325، 6ص.
الناشر
تاريخ النشر
2006-06-30
دولة النشر
السعودية
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Alport's syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life.
It is a clinically and genetically heterogeneous nephropathy.
Alport's syndrome is often associated with sensorineural deafness and / or ocular abnormalities.
In contrast with the well-known X-linked phenotype, very little is known about the autosomal dominant form caused by mutations in COL4A3 and COL4A4 in the chromosome region 2q35-q37.
We describe a Tunisian family with autosomal dominant Alport's syndrome in which males and females were equally affected.
Two members reached ESRD at age 40 and 53 years, respectively.
Three members experienced isolated microhematuria and one member experienced sensorineural deafness.
No eye abnormalities were observed.
Immunohistochemical studies showed a normal distribution of the α5 (type IV collagen) chain in the epidermal basement membrane.
Genetic analysis demonstrated that a common haplotype co-segregated with the disease in the heterozygous state in all affected patients, thereby, confirming an autosomal dominant mode of inheritance.
The same haplotype was observed in two asymptomatic children.
We conclude that autosomal dominant Alport's syndrome, follows a rare mode of inheritance and exhibits a milder phenotype than usually observed in classic X-linked Alport's syndrome.
The frequency of this mode of inheritance should be confirmed by a larger study.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Kharrat, M.& Makni, S.& Makni, K.& Kammoun, K.& Charfeddine, K.& Azaeiz, H.…[et al.]. 2006. Autosomal Dominant Alport's Syndrome : study of a large Tunisian family. Saudi Journal of Kidney Diseases and Transplantation،Vol. 17, no. 3, pp.320-325.
https://search.emarefa.net/detail/BIM-43302
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Kharrat, M.…[et al.]. Autosomal Dominant Alport's Syndrome : study of a large Tunisian family. Saudi Journal of Kidney Diseases and Transplantation Vol. 17, no. 3 (Dec. 2006), pp.320-325.
https://search.emarefa.net/detail/BIM-43302
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Kharrat, M.& Makni, S.& Makni, K.& Kammoun, K.& Charfeddine, K.& Azaeiz, H.…[et al.]. Autosomal Dominant Alport's Syndrome : study of a large Tunisian family. Saudi Journal of Kidney Diseases and Transplantation. 2006. Vol. 17, no. 3, pp.320-325.
https://search.emarefa.net/detail/BIM-43302
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 324-325
رقم السجل
BIM-43302
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