A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia
المؤلفون المشاركون
Ran, Jianmin
Liu, Yan
Liu, Hongbing
Chen, Chuping
Chen, Guangshu
Zhu, Ping
Tan, Rongshao
المصدر
International Journal of Endocrinology
العدد
المجلد 2019، العدد 2019 (31 ديسمبر/كانون الأول 2019)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2019-09-09
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
Objective.
Familial dysalbuminemic hyperthyroxinemia (FDH) has now become an established cause for spurious asymptomatic hyperthyroxinemia.
Several different codon mutations on albumin gene had been identified.
We here provided an established but rarely reported heterozygous mutation based on gene sequencing results from a Chinese family.
Methods.
The proband is a 14-year-old girl with light goiter and asymptomatic clinical presentations, whose thyroid function test by a one-step immunoassay showed increased free thyroxine (FT4) and free triiodothyronine (FT3) but nonsuppressed thyrotropin (TSH).
All thyroid auto-antibodies were in the normal range.
Blood samples were collected from her and most of her immediate family members for target gene sequencing and verification.
Results.
Hyperthyroxinemia was also confirmed in the proband’s mother and one of her uncles and his son.
In the proband and these three pedigrees, the high-throughput gene screening sequencing and the following Sanger sequencing disclosed a heterozygous mutation in the albumin gene, which located in its exon 7 (c.725G > A), and correspondingly leads to an arginine replacement with a histidine (R242H) in its protein.
This is an established mutation named as R218H if present without signal peptide sequence.
Conclusions.
For patients with asymptomatic hyperthyroxinemia, FDH should be clinically excluded before embarking on further investigations for other specific causes.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Liu, Hongbing& Ran, Jianmin& Chen, Chuping& Chen, Guangshu& Zhu, Ping& Tan, Rongshao…[et al.]. 2019. A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia. International Journal of Endocrinology،Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1159624
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Liu, Hongbing…[et al.]. A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia. International Journal of Endocrinology No. 2019 (2019), pp.1-7.
https://search.emarefa.net/detail/BIM-1159624
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Liu, Hongbing& Ran, Jianmin& Chen, Chuping& Chen, Guangshu& Zhu, Ping& Tan, Rongshao…[et al.]. A Chinese Family with Familial Dysalbuminemic Hyperthyroxinemia (FDH) due to R242H Mutation on Human Albumin Gene: Reevaluating the Role of FDH in Patients with Asymptomatic Hyperthyroxinemia. International Journal of Endocrinology. 2019. Vol. 2019, no. 2019, pp.1-7.
https://search.emarefa.net/detail/BIM-1159624
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1159624
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