Urinary adenosine 3',5'-monophosphate (cAMP) response to antidiuretic hormone in diabetes insipidus (DI): comparison between congenital nephrogenic DI type 1 and 2, and vasopressin sensitive DI

1985 ◽  
Vol 108 (4) ◽  
pp. 485-490 ◽  
Author(s):  
Takehiko Ohzeki
Keyword(s):  
Urinary Excretion ◽  
Diabetes Insipidus ◽  
Antidiuretic Hormone ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
The Other ◽  
Familial Cases ◽  
Before And After

Abstract. Urinary adenosine 3',5'-monophosphate (cAMP) excretion before and after administration of aqueous vasopressin (pitressin) and 1-deamino-8-d-arginine vasopressin (DDAVP) was measured in congenital nephrogenic and in vasopressin sensitive diabetes insipidus (VS-DI). Excretion of cAMP into the urine increased markedly in response to pitressin (676%) and to DDAVP (252%) in VS-DI. Nephrogenic diabetes insipidus (N-DI) could be divided into two categories (type 1 and type 2) in respect to urinary cAMP responsiveness. In type 1, cAMP excretion showed no definite change after stimulation with pitressin (102%) or DDAVP (127%). On the other hand, urinary excretion of cAMP was significantly elevated in response to DDAVP in familial cases of N-DI type 2 (1269%) without producing any concentrating effect on the urine. Two different defects are considered to be involved in the pathogenesis of N-DI.

scholarly journals A low-affinity vasopressin V2-receptor gene in a kindred with X-linked nephrogenic diabetes insipidus.

1996 ◽  
Vol 7 (3) ◽  
pp. 410-414 ◽  
Author(s):  
K Yokoyama ◽  
A Yamauchi ◽  
M Izumi ◽  
T Itoh ◽  
A Ando ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Receptor Gene ◽  
Single Amino Acid ◽  
Intracellular Camp ◽  
V2 Receptor ◽  
V2 Receptor Gene ◽  
Type Receptor

In this study, a mutation in vasopressin Type 2 receptor (V2R) in a patient with hereditary nephrogenic diabetes insipidus (NDI) has been identified and characterized. The sequencing of the V2R gene from the patient revealed that there was a missense mutation (TAT to TGT) resulting in the substitution of 205Tyr for Cys in the putative third extracellular domain. The expression analysis in COS cells showed that the binding affinity of the mutant receptor (KD = 19.8 nM) for arginine vasopressin was much lower than that of the wild-type receptor (KD = 1.8 nM) so that intracellular cAMP production stimulated by arginine vasopressin was impaired in cells with the mutant V2R. From these results, it was concluded that the single amino-acid substitution of V2R is responsible for this familial disease.

scholarly journals Combo effect of hypomagnesemia and hypokalaemia inducing nephrogenic diabetes insipidus in a patient with type 1 diabetes mellitus

2021 ◽  
Author(s):  
Esmail Sangey ◽  
Kishan Chudasama ◽  
Ahmad Mwinyi
Keyword(s):  
Diabetes Mellitus ◽  
Type 1 Diabetes ◽  
Diabetes Insipidus ◽  
Type 1 Diabetes Mellitus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Water Channels ◽  
Aquaporin 2 ◽  
Collecting Ducts

NDI is rarely considered versus diabetes mellitus in the situation of polyuria. It is well known that hypokalaemia and hypercalcemia induce NDI through decreased activity of arginine vasopressin and downregulation of Aquaporin-2 water channels in the collecting ducts. However, not much is known whether hypomagnesemia can directly induce NDI.

scholarly journals Nephrogenic Diabetes Insipidus - A Rare Report of Two Affected Sibling

2018 ◽  
Vol 41 (3) ◽  
pp. 193-195
Author(s):  
Rumana Riaaz ◽  
Mahbub Mutanabbi ◽  
Kohinoor Jahan Shamaly ◽  
CA Kawser
Keyword(s):  
Child Health ◽  
Diabetes Insipidus ◽  
Antidiuretic Hormone ◽  
Nephrogenic Diabetes Insipidus ◽  
Water Deprivation ◽  
Failure To Thrive ◽  
Urine Osmolality ◽  
Affected Sibling ◽  
Before And After ◽  
Rare Report

Nephrogenic Diabetes Insipidus (NDI) is a type of Diabetes Insipidus (DI) where distal nephrons are unresponsive to antidiuretic hormone resulting in polyuria and polydipsia. NDI can be congenital or acquired. There are very few cases of congenital NDI, more in sibs. Here we report two sibs affected with congenital NDI. Both of them presented with polyuria, polydipsia and failure to thrive since early infancy. In both cases, water deprivation tests and urine osmolality were done before and after DDAVP that suggested NDI and the acquired causes has been excluded. Both of them were treated with oral Hydrochlorothiazide and improved.Bangladesh J Child Health 2017; VOL 41 (3) :193-195

The pseudomalachite-ludjibaite-reichenbachite conundrum: OD description

2019 ◽  
Vol 57 (5) ◽  
pp. 571-581
Author(s):  
Emil Makovicky
Keyword(s):  
Crystal Structures ◽  
Current Knowledge ◽  
The Other ◽  
Crystal Chemical ◽  
Layer System ◽  
Coordination Polyhedra

Abstract Crystal structures of the three polymorphs of Cu5(PO4)2(OH)4, namely pseudomalachite, ludjibaite, and reichenbachite, can be described as being composed of rods perpendicular to their crystal-chemical layering. Two different sorts of rods can be defined. Type 1 rods share rows of Cu coordination polyhedra, forming a series of slabs. Slab boundaries and slab interiors represent alternating geometric OD layers of two kinds, with layer symmetries close to P21/m and , which make up two different stacking schemes of geometric OD layers in the structures of ludjibaite and pseudomalachite. Such OD layers, however, are not developed in reichenbachite. Type 2 rods are defined as having columns of PO4 tetrahedra in the corners of the rods. In the Type 2 slabs composed of these rods, geometric Pg OD layers of glide-arrayed tetrahedra alternate with more complex OD layers; in ludjibaite this system of layers is oriented diagonally with respect to the Type 1 OD layer system. Two different OD stackings of Type 2 OD layers form the ludjibaite and reichenbachite structures but not that of pseudomalachite. Thus, ludjibaite might form disordered intergrowths with either of the other two members of the triplet but reichenbachite and pseudomalachite should not form oriented intergrowths. Current knowledge concerning formation of the three polymorphs is considered.

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.

scholarly journals Valine-279 Deletion–Mutation on Arginine Vasopressin Receptor 2 Causes Obstruction in G-Protein Binding Site: A Clinical Nephrogenic Diabetes Insipidus Case and Its Sub-Molecular Pathogenic Analysis

Biomedicines ◽  
2021 ◽  
Vol 9 (3) ◽  
pp. 301
Author(s):  
Ming-Chun Chen ◽  
Yu-Chao Hsiao ◽  
Chun-Chun Chang ◽  
Sheng-Feng Pan ◽  
Chih-Wen Peng ◽  
...  
Keyword(s):  
Structural Analysis ◽  
Protein Binding ◽  
Diabetes Insipidus ◽  
Binding Site ◽  
G Protein ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Md Simulations ◽  
Protein Binding Site ◽  
Vasopressin Receptor

Congenital nephrogenic diabetes insipidus (CNDI) is a genetic disorder caused by mutations in arginine vasopressin receptor 2 (AVPR2) or aquaporin 2 genes, rendering collecting duct cells insensitive to the peptide hormone arginine vasopressin stimulation for water reabsorption. This study reports a first identified AVPR2 mutation in Taiwan and demonstrates our effort to understand the pathogenesis caused by applying computational structural analysis tools. The CNDI condition of an 8-month-old male patient was confirmed according to symptoms, family history, and DNA sequence analysis. The patient was identified to have a valine 279 deletion–mutation in the AVPR2 gene. Cellular experiments using mutant protein transfected cells revealed that mutated AVPR2 is expressed successfully in cells and localized on cell surfaces. We further analyzed the pathogenesis of the mutation at sub-molecular levels via long-term molecular dynamics (MD) simulations and structural analysis. The MD simulations showed while the structure of the extracellular ligand-binding domain remains unchanged, the mutation alters the direction of dynamic motion of AVPR2 transmembrane helix 6 toward the center of the G-protein binding site, obstructing the binding of G-protein, thus likely disabling downstream signaling. This study demonstrated that the computational approaches can be powerful tools for obtaining valuable information on the pathogenesis induced by mutations in G-protein-coupled receptors. These methods can also be helpful in providing clues on potential therapeutic strategies for CNDI.

scholarly journals Functional characterization of a loss-of-function mutant I324M of arginine vasopressin receptor 2 in X-linked nephrogenic diabetes insipidus

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Lixia Wang ◽  
Weihong Guo ◽  
Chunyun Fang ◽  
Wenli Feng ◽  
Yumeng Huang ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Functional Characterization ◽  
Gene Mutations ◽  
Biochemical Properties ◽  
Vasopressin Receptor ◽  
Inherited Disease ◽  
Loss Of Function ◽  
Gene Encoding

AbstractX-linked nephrogenic diabetes insipidus (X-linked NDI) is a rare inherited disease mainly caused by lost-of-function mutations in human AVPR2 gene encoding arginine vasopressin receptor 2 (V2R). Our focus of the current study is on exploration of the functional and biochemical properties of Ile324Met (I324M) mutation identified in a pedigree showing as typical recessive X-linked NDI. We demonstrated that I324M mutation interfered with the conformation of complex glycosylation of V2R. Moreover, almost all of the I324M-V2R failed to express on the cell surface due to being captured by the endoplasmic reticulum control system. We further examined the signaling activity of DDAVP-medicated cAMP and ERK1/2 pathways and the results revealed that the mutant receptor lost the ability in response to DDAVP stimulation contributed to the failure of accumulation of cAMP and phosphorylated ERK1/2. Based on the characteristics of molecular defects of I324M mutant, we selected two reagents (SR49059 and alvespimycin) to determine whether the functions of I324M-V2R can be restored and we found that both compounds can significantly “rescue” I324M mutation. Our findings may provide further insights for understanding the pathogenic mechanism of AVPR2 gene mutations and may offer some implications on development of promising treatments for patients with X-linked NDI.

Comparing the Arrangements of Governance and Sustainable Development in OECD Countries: Coupled or Decoupled?

2019 ◽  
Vol 34 (1) ◽  
pp. 99-117
Author(s):  
Huh Taewook
Keyword(s):  
Sustainable Development ◽  
Oecd Countries ◽  
The Other ◽  
Type Analysis ◽  
Ideal Types ◽  
Type 3 ◽  
Relationship Of ◽  
The Relationship

This study attempts to analyze to what extent governance and sustainable development (SD) empirically appear compatible in the thirtyfive OECD countries through the fuzzy-set ideal type analysis, and identify which ideal types appear coupled or decoupled, and then reveal which countries belong to the coupled types or to the decoupled types. In short, twenty-two countries (including Sweden (fuzzy score, 0.953), Denmark (0.920), Finland (0.914), Norway (0.911) in Type 1 (G*S, ‘strong G-S coupled countries’); and Turkey (0.906), Greece (0.833), Mexico (0.828) in Type 4 (g*s, ‘lite g-s coupled countries’) are in line with the accepted conventions regarding the compatible relationship between governance and SD. On the other hand, the rest of thirteen countries (including USA (fuzzy score, 0.815), Luxembourg (0.721), Australia (0.660) in Type 2 (G*s, ‘G-s decoupled countries’); and Slovenia (0.728), France (0.644), Czech Rep. (0.625) in Type 3 (g*S, ‘g-S decoupled countries’) may indicate that the relationship of governance and SD is in fact experiencing tensions in the national contexts. These findings are characterized by the substance (of SD) and procedure (of governance) divide. Considering the results, this study focuses on the idea of reflexivity or reflexive capacity.

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