scholarly journals A novel mutation affecting the arginine-137 residue of AVPR2 in dizygous twins leads to nephrogenic diabetes insipidus and attenuated urine exosome aquaporin-2

2016 ◽  
Vol 4 (8) ◽  
pp. e12764 ◽  
Author(s):  
Gitte R. Hinrichs ◽  
Louise H. Hansen ◽  
Maria R. Nielsen ◽  
Christina Fagerberg ◽  
Hans Dieperink ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Aquaporin 2

scholarly journals Congenital nephrogenic diabetes insipidus with a novel mutation in the aquaporin 2 gene

2014 ◽  
Vol 2 (4) ◽  
pp. 596-598 ◽  
Author(s):  
YOUN JONG PARK ◽  
HAING WOON BAIK ◽  
HAE IL CHEONG ◽  
JU HYUNG KANG
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Novel Mutation of Aquaporin-2 Gene in a Patient with Congenital Nephrogenic Diabetes Insipidus

2009 ◽  
Vol 56 (7) ◽  
pp. 905-910 ◽  
Author(s):  
Seong-Su MOON ◽  
Han-Jong KIM ◽  
Yeon-Kyung CHOI ◽  
Hyun-Ae SEO ◽  
Jae-Han JEON ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Two Novel Mutations in the Aquaporin 2 Gene in a Girl with Congenital Nephrogenic Diabetes Insipidus

2005 ◽  
Vol 20 (6) ◽  
pp. 1076 ◽  
Author(s):  
Hae Il Cheong ◽  
Su Jin Cho ◽  
Shou Huan Zheng ◽  
Hee Yeon Cho ◽  
Il Soo Ha ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutations ◽  
Aquaporin 2 ◽  
Congenital Nephrogenic Diabetes Insipidus

scholarly journals Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus

2003 ◽  
Vol 163 (5) ◽  
pp. 1099-1109 ◽  
Author(s):  
Erik-Jan Kamsteeg ◽  
Daniel G. Bichet ◽  
Irene B.M. Konings ◽  
Hubert Nivet ◽  
Michelle Lonergan ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Water Conservation ◽  
Nephrogenic Diabetes Insipidus ◽  
Water Channel ◽  
Apical Plasma Membrane ◽  
Apical Surface ◽  
Aquaporin 2 ◽  
Frame Shift ◽  
Polarized Delivery ◽  
Mutant Forms

Vasopressin regulates body water conservation by redistributing aquaporin-2 (AQP2) water channels from intracellular vesicles to the apical surface of renal collecting ducts, resulting in water reabsorption from urine. Mutations in AQP2 cause autosomal nephrogenic diabetes insipidus (NDI), a disease characterized by the inability to concentrate urine. Here, we report a frame-shift mutation in AQP2 causing dominant NDI. This AQP2 mutant is a functional water channel when expressed in Xenopus oocytes. However, expressed in polarized renal cells, it is misrouted to the basolateral instead of apical plasma membrane. Additionally, this mutant forms heterotetramers with wild-type AQP2 and redirects this complex to the basolateral surface. The frame shift induces a change in the COOH terminus of AQP2, creating both a leucine- and a tyrosine-based motif, which cause the reversed sorting of AQP2. Our data reveal a novel cellular phenotype in dominant NDI and show that dominance of basolateral sorting motifs in a mutant subunit can be the molecular basis for disease.

scholarly journals Aliskiren increases aquaporin-2 expression and attenuates lithium-induced nephrogenic diabetes insipidus

2017 ◽  
Vol 313 (4) ◽  
pp. F914-F925 ◽  
Author(s):  
Yu Lin ◽  
Tiezheng Zhang ◽  
Pinning Feng ◽  
Miaojuan Qiu ◽  
Qiaojuan Liu ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Collecting Duct ◽  
Renin Inhibitor ◽  
Protein Abundance ◽  
Aquaporin 2 ◽  
Direct Renin Inhibitor ◽  
Collecting Ducts ◽  
Dry Food ◽  
Concentrating Defect

The direct renin inhibitor aliskiren has been shown to be retained and persist in medullary collecting ducts even after treatment is discontinued, suggesting a new mechanism of action for this drug. The purpose of the present study was to investigate whether aliskiren regulates renal aquaporin expression in the collecting ducts and improves urinary concentrating defect induced by lithium in mice. The mice were fed with either normal chow or LiCl diet (40 mmol·kg dry food−1·day−1 for 4 days and 20 mmol·kg dry food−1·day−1 for the last 3 days) for 7 days. Some mice were intraperitoneally injected with aliskiren (50 mg·kg body wt−1·day−1 in saline). Aliskiren significantly increased protein abundance of aquaporin-2 (AQP2) in the kidney inner medulla in mice. In inner medulla collecting duct cell suspension, aliskiren markedly increased AQP2 and phosphorylated AQP2 at serine 256 (pS256-AQP2) protein abundance, which was significantly inhibited both by adenylyl cyclase inhibitor MDL-12330A and by PKA inhibitor H89, indicating an involvement of the cAMP-PKA signaling pathway in aliskiren-induced increased AQP2 expression. Aliskiren treatment improved urinary concentrating defect in lithium-treated mice and partially prevented the decrease of AQP2 and pS256-AQP2 protein abundance in the inner medulla of the kidney. In conclusion, the direct renin inhibitor aliskiren upregulates AQP2 protein expression in inner medullary collecting duct principal cells and prevents lithium-induced nephrogenic diabetes insipidus likely via cAMP-PKA pathways.

scholarly journals Autophagic degradation of aquaporin-2 is an early event in hypokalemia-induced nephrogenic diabetes insipidus

2015 ◽  
Vol 5 (1) ◽  
Author(s):  
Sookkasem Khositseth ◽  
Panapat Uawithya ◽  
Poorichaya Somparn ◽  
Komgrid Charngkaew ◽  
Nattakan Thippamom ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Early Event ◽  
Aquaporin 2 ◽  
Autophagic Degradation

scholarly journals Normal Fibrinolytic Responses to 1 -Desamino-8-D-Arginine Vasopressin in Patients with Nephrogenic Diabetes insipidus Caused by Mutations in the Aquaporin 2 Gene

Nephron ◽  
1996 ◽  
Vol 72 (4) ◽  
pp. 544-546 ◽  
Author(s):  
A.F. van Lieburg ◽  
V.V.A.M. Knoers ◽  
R. Mallmann ◽  
W. Proesmans ◽  
L.P.W.J. van den Heuvel ◽  
...  
Keyword(s):  
Diabetes Insipidus ◽  
Arginine Vasopressin ◽  
Nephrogenic Diabetes Insipidus ◽  
Aquaporin 2

scholarly journals A Novel Mutation in the AVPR2 Gene in a Palestinian Family with Nephrogenic Diabetes Insipidus

2017 ◽  
Vol 07 (01) ◽  
pp. e1-e3
Author(s):  
Abdulsalam Abu-Libdeh ◽  
Isaiah Wexler ◽  
Imad Dweikat ◽  
David Zangen ◽  
Bassam Abu-Libdeh
Keyword(s):  
Diabetes Insipidus ◽  
Nephrogenic Diabetes Insipidus ◽  
Novel Mutation ◽  
Collecting Duct ◽  
Failure To Thrive ◽  
Male Infant ◽  
Gene Encoding ◽  
Exon 2 ◽  
Recessive Form ◽  
V2 Vasopressin Receptor

AbstractNephrogenic diabetes insipidus (NDI) is a urinary concentrating defect resulting from resistance of the collecting duct to the antidiuretic action of vasopressin (AVP). The X-linked recessive form is the most frequent genetic cause of inherited NDI and can be caused by mutations in the gene encoding the V2 vasopressin receptor (AVPR2). A Palestinian male infant presented in the neonatal period with failure to thrive, vomiting, irritability, fever, and polyuria, and had biochemical findings consistent with NDI. The diagnosis of NDI was established based on the clinical picture, absent response to desmopressin, and a similarly affected elder brother. Sequencing of the AVPR2 gene for the patient and his affected brother revealed a novel missense mutation with replacement of G by A in codon 82 located in exon 2 (TGC → TAC), causing a cysteine to tyrosine substitution (C82Y). Testing of the mother showed that she was the carrier of that mutation. This is the identified AVPR2 mutation in a Palestinian family. Knowledge of these mutations will allow genetic counseling and early diagnosis of affected males.

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