Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review
المؤلفون المشاركون
Li, Xueting
Chen, Ruofei
Chen, Mingwei
المصدر
العدد
المجلد 2020، العدد 2020 (31 ديسمبر/كانون الأول 2020)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2020-10-24
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
The present study reported clinical characteristics and the results of gene mutation analysis of 3 Chinese patients with Gitelman syndrome (GS).
Three patients manifested with normal blood pressure, recurrent hypokalemia, and metabolic alkalosis.
Only case 2 had obvious hypomagnesemia.
Gene sequencing showed a compound heterozygous mutation in SCL12A3 in case 1 and a homozygous mutation in SCL12A3 in case 2.
Heterozygous mutations in SCL12A3 and CLCNKB were found in case 3.
Then, the literature was reviewed.
The keyword “Gitelman syndrome” was inputted into the PubMed, Wanfang Database, and CNK to search all Chinese patients with GS diagnosed by gene mutations and to extract complete clinical data from December 1998 to 2018.
Finally, a total of 124 cases of GS were included.
No significant differences in the levels of serum potassium and magnesium were observed among the different gene mutations, and the serum magnesium levels in adults were lower than those of the juvenile.
GS with reduced blood magnesium had a serious clinical phenotype.
Therefore, GS had a diverse phenotype, and its final diagnosis required genetic profiling.
The relationship of gene mutation and clinical phenotype needed further study.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Li, Xueting& Chen, Ruofei& Chen, Mingwei. 2020. Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review. Case Reports in Medicine،Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1148545
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Li, Xueting…[et al.]. Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review. Case Reports in Medicine No. 2020 (2020), pp.1-6.
https://search.emarefa.net/detail/BIM-1148545
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Li, Xueting& Chen, Ruofei& Chen, Mingwei. Clinical Characteristics and Gene Mutation Analysis of the Chinese Han Population with Gitelman Syndrome: 3 Case Reports and a Literature Review. Case Reports in Medicine. 2020. Vol. 2020, no. 2020, pp.1-6.
https://search.emarefa.net/detail/BIM-1148545
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1148545
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