تفاصيل الوثيقة

نوع الوثيقة : مقال في مجلة دورية 
عنوان الوثيقة :
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family
Congenital insensitivity to pain with anhidrosis: A report of two siblings with a novel mutation in (TrkA) NTRK1 gene in a Saudi family
 
لغة الوثيقة : الانجليزية 
المستخلص : Congenital insensitivity to painwith anhidrosis (CIPA) or hereditary sensory and autonomic neuropathy type IV (HSAN type IV) is an extremely rare autosomal recessive disorder with an estimated incidence of 1 in 25,000. It was first described in 1963, and since then several case reports and review articles have been published. In this article, we report two brothers with clinical features of CIPA, who presented with recurrent episodes of hyperthermia, anhidrosis, profound loss of pain sensitivity, and unconscious self-mutilation of fingers, lip and tongue. Sanger sequencing analysis confirmed the presence of a novel mutation c.783_785delGAA in the NTRK1 gene in the two affected members of the family. Early diagnosis and management of different systemic complications including orthopedic, visual, and dental may be useful in the reduction of frequency and severity of these complications. 
ردمد : 0022-510X 
اسم الدورية : NTRK1 CIPA HSAN type IV Autosomal recessive disorder Saudi family 
المجلد : 370 
العدد : 1 
سنة النشر : 1437 هـ
2016 م 
نوع المقالة : مقالة علمية 
تاريخ الاضافة على الموقع : Thursday, July 20, 2017 

الباحثون

اسم الباحث (عربي)اسم الباحث (انجليزي)نوع الباحثالمرتبة العلميةالبريد الالكتروني
Hussein AlgahtaniAlgahtani, Hussein باحثدكتوراه 
Muhammad Imran NaseerNaseer, Muhammad Imranباحثدكتوراه 
Mohammad Al-QahtaniAl-Qahtani, Mohammad باحثدكتوراه 
Shireen Abubakr AbdulrahmanAbdulrahman, Shireen Abubakrباحثدكتوراه 
Faisal BokerBoker, Faisal باحثدكتوراه 
Bader ShirahShirah, Bader باحثدكتوراه 

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