scholarly journals Appropriate Polarization following Pharmacological Rescue of V2 Vasopressin Receptors Encoded by X-linked Nephrogenic Diabetes Insipidus Alleles Involves a Conformation of the Receptor That Also Attains Mature Glycosylation

2003 ◽  
Vol 278 (37) ◽  
pp. 35678-35686 ◽  
Author(s):  
Christopher M. Tan ◽  
Hilary Highfield Nickols ◽  
Lee E. Limbird
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Vasopressin Receptors ◽  
V2 Vasopressin Receptors

Nephrogenic diabetes insipidus in a 15-year-old Hispanic female with a novel AQP2 mutation

2019 ◽  
Vol 32 (9) ◽  
pp. 1031-1034
Author(s):  
Benjamin C. Long ◽  
Zachary J. Weber ◽  
John M. Oberlin ◽  
Deena E. Sutter ◽  
Janet M. Berg
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Gene Mutations ◽  
Compound Heterozygous ◽  
Nucleotide Position ◽  
Water Reabsorption ◽  
Gene Testing ◽  
Vasopressin Receptors ◽  
The Common ◽  
Aquaporin Channels

Abstract Nephrogenic diabetes insipidus (NDI) is a rare inherited disorder most often caused by mutations in the arginine-vasopressin receptors or aquaporin channels, which subsequently impairs the water reabsorption in the kidney. This case report describes a 15-year-old female diagnosed with NDI after an acute gastroenteritis and multiple fluid boluses leading to intractable emesis. Gene testing reveals our patient is compound heterozygous for novel AQP2 gene mutations with a cytosine-to-thymine substitution at nucleotide position 277 and adenine-to-cytosine substitution at nucleotide position 659. Therefore, we report a novel AQP2 gene mutation in an adolescent patient which is outside the common age for diagnosis.

scholarly journals Congenital nephrogenic diabetes insipidus accompanied with central nephrogenic diabetes secondary to pituitary surgery -a case report

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Wei Zhang ◽  
Yimin Shen ◽  
Yuezhong Ren ◽  
Yvbo Xin ◽  
Lijun Wang
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Direct Detection ◽  
Urine Volume ◽  
Pituitary Surgery ◽  
Accurate Method ◽  
Heterozygous Mutation ◽  
Case Presentation ◽  
Congenital Nephrogenic Diabetes Insipidus

Abstract Background Diabetes insipidus (DI) can be a common cause of polydipsia and polyuria. Here, we present a case of congenital nephrogenic diabetes insipidus (CNDI) accompanied with central diabetes insipidus (CDI) secondary to pituitary surgery. Case presentation A 24-year-old Chinese woman came to our hospital with the complaints of polydipsia and polyuria for 6 months. Six months ago, she was detected with pituitary apoplexy, and thereby getting pituitary surgery. However, the water deprivation test demonstrated no significant changes in urine volume and urine gravity in response to fluid depression or AVP administration. In addition, the genetic results confirmed a heterozygous mutation in arginine vasopressin receptor type 2 (AVPR2) genes. Conclusions She was considered with CNDI as well as acquired CDI secondary to pituitary surgery. She was given with hydrochlorothiazide (HCTZ) 25 mg twice a day as well as desmopressin (DDAVP, Minirin) 0.1 mg three times a day. There is no recurrence of polyuria or polydipsia observed for more than 6 months. It can be hard to consider AVPR2 mutation in female carriers, especially in those with subtle clinical presentation. Hence, direct detection of DNA sequencing with AVPR2 is a convenient and accurate method in CNDI diagnosis.

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