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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.

DOI:10.1210/jcemcr/luac023
PMID:37908243
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10578377/
Abstract

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.

摘要

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。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b337/10578377/949e2b8e850a/luac023f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b337/10578377/9cf431a1c29e/luac023f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b337/10578377/949e2b8e850a/luac023f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b337/10578377/9cf431a1c29e/luac023f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b337/10578377/949e2b8e850a/luac023f2.jpg

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本文引用的文献

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Approach to the Patient: "Utility of the Copeptin Assay".患者处理：“ copeptin 检测的效用”。
J Clin Endocrinol Metab. 2022 May 17;107(6):1727-1738. doi: 10.1210/clinem/dgac070.
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Diagnostic Accuracy of Copeptin in the Differential Diagnosis of the Polyuria-polydipsia Syndrome: A Prospective Multicenter Study.copeptin在多尿-多饮综合征鉴别诊断中的诊断准确性：一项前瞻性多中心研究。
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A de novo mutation in the coding sequence for neurophysin-II (Pro24-->Leu) is associated with onset and transmission of autosomal dominant neurohypophyseal diabetes insipidus.
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The effect of phospholipid vesicles on the NMR relaxation of water: an explanation for the MR appearance of the neurohypophysis?磷脂囊泡对水的核磁共振弛豫的影响：对神经垂体磁共振成像表现的一种解释？
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