一个瑞士家族中因该基因突变导致的遗传性中枢性尿崩症的诊断与治疗
Diagnosis and Treatment of Hereditary Central Diabetes Insipidus in a Swiss Family With a Mutation in the Gene.
作者信息
Wyniger Lorena, Beuret Nicole, Rutishauser Jonas, Seelig Eleonora
机构信息
Department of Endocrinology, Diabetology and Metabolism, University Hospital Basel, 4031 Basel, Switzerland.
Biozentrum, University of Basel, 4056 Basel, Switzerland.
出版信息
JCEM Case Rep. 2022 Dec 3;1(1):luac023. doi: 10.1210/jcemcr/luac023. eCollection 2023 Jan.
Hereditary central diabetes insipidus (CDI) is a genetic disorder characterized by polydipsia and polyuria. Most known mutations are located in the arginine-vasopressin () gene. Here, we describe a Swiss family with an autosomal dominant mutation in the gene region encoding for the carrier protein neurophysin II (P55R). In addition, we discuss the algorithm for diagnosing and treating patients with hereditary CDI based on this Swiss family.
遗传性中枢性尿崩症（CDI）是一种以烦渴和多尿为特征的遗传性疾病。大多数已知突变位于精氨酸加压素（）基因中。在此，我们描述了一个瑞士家族，其在编码载体蛋白神经垂体素II（P55R）的基因区域存在常染色体显性突变。此外，我们还讨论了基于这个瑞士家族对遗传性CDI患者进行诊断和治疗的算法。
Zotero 插件