Results 51 to 60 of about 23,590 (248)

Characterization of five novel vasopressin V2 receptor mutants causing nephrogenic diabetes insipidus reveals a role of tolvaptan for M272R-V2R mutation

Scientific Reports, 2020
Nephrogenic diabetes insipidus (NDI) is a rare tubulopathy characterized by urinary concentration defect due to renal resistance to vasopressin. Loss-of-function mutations of vasopressin V2 receptor (V2R) gene (AVPR2) is the most common cause of the ...
Federica Prosperi, Y. Suzumoto, P. Marzuillo, Vincenzo Costanzo, Sabina Jeleń, A. Iervolino, S. Guarino, A. La Manna, E. Miraglia del Giudice, A. Perna, M. Zacchia, Emmanuelle Cordat, G. Capasso, F. Trepiccione   +13 more
semanticscholar   +1 more source

Aquaporin modulators: a patent review (2010-2015) [PDF]

, 2016
Introduction: Since the discovery of aquaporin-1 (AQP1) as a water channel, more than 2,000 articles, reviews and chapters have been published.
Casini, Angela, Soveral, Graça
core   +1 more source

GENETICS IN ENDOCRINOLOGY Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.

European Journal of Endocrinology, 2020
For an endocrinologist, nephrogenic diabetes insipidus (NDI) is an end-organ disease, that is the antidiuretic hormone, arginine-vasopressin (AVP) is normally produced but not recognized by the kidney with an inability to concentrate urine despite ...
D. Bichet
semanticscholar   +1 more source

Functional characterization of AVPR2 mutants found in Turkish patients with nephrogenic diabetes insipidus

Endocrine Connections, 2017
Diabetes insipidus is a rare disorder characterized by an impairment in water balance because of the inability to concentrate urine. While central diabetes insipidus is caused by mutations in the AVP, the reason for genetically determined nephrogenic ...
Beril Erdem, Angela Schulz, Emel Saglar, Ferhat Deniz, Torsten Schöneberg, Hatice Mergen   +5 more
doaj   +1 more source

A Case of Nephrogenic Diabetes Insipidus with a Rare X-linked Recessive Mutation in an Infant with Developmental and Growth Retardation Tracked by the Korean National Health Screening Program [PDF]

Childhood Kidney Diseases, 2020
Nephrogenic diabetes insipidus (DI) is a rare disease in which the patient cannot concentrate urine despite appropriate or high secretion of antidiuretic hormone.
Min-Ji Kim, Jae Young Cho, Ji Sook Park, Eun Sil Park, Ji-Hyun Seo, Jae-Young Lim, Hyang-Ok Woo, Hee-Shang Youn   +7 more
doaj   +1 more source

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2. [PDF]

, 2016
CONTEXT: Nephrogenic syndrome of inappropriate antidiuresis (NSIAD), resulting from activating mutations in the arginine vasopressin receptor type 2 (AVPR2), is a rare cause of hyponatraemia.
Adrogué, Audet, Ball, Bes, Bockenhauer, Brachet, Carpentier, Clayton, Cowen, Decaux, Erdélyi, Feldman, Fu, Gitelman, Gupta, Hinchliffe, Hu, Huang, Kelley, Marcialis, Ranchin, Renneboog, Robertson, Robertson, Rochdi, Rovati, Soule, Spanakis, Spasovski, Spiegel, Tenenbaum, Vandergheynst, Vassart, Verbalis, Wald, Zerbe   +35 more
core   +2 more sources

Nephrogenic diabetes insipidus with idiopathic Fanconi′s syndrome in a child who presented as vitamin D resistant rickets

Indian Journal of Endocrinology and Metabolism, 2011
Fanconi′s syndrome is a complex of multiple tubular dysfunctions of proximal tubular cells occurring alone or in association with a variety of inherited (primary) or acquired (secondary) disorders.
Soumya Patra, Gulnaz Nadri, Harish Chowdhary, Harish K Pemde, Varinder Singh, Jagdish Chandra   +5 more
doaj   +1 more source

A female with X‐linked Nephrogenic diabetes insipidus in a family with inherited central diabetes Insipidus: Case report and review of the literature

American Journal of Medical Genetics. Part A, 2020
There are two forms of diabetes insipidus, central (neurohypophyseal), and nephrogenic, caused by pathogenic variants in the AVP gene and the AVPR2 or AQP2 genes, respectively. We report on a four‐generation family, seven individuals had central diabetes
Can Ding, R. Beetz, G. Rittner, O. Bartsch   +3 more
semanticscholar   +1 more source

Diabetes Insipidus: Types, Diagnosis and Management [PDF]

BIO Web of Conferences
Diabetes insipidus (DI) is an acquired or hereditary water imbalance disorder characterized by polydipsia and polyuria. It is a condition that involves the excretion of dilute urine in large volumes.
Jasmeen, Vitubisgho Nyirenda Phoebe, Khurana Navneet, Mishra Rakhi, Chaudhary Jasmine, Duggal Navneet   +5 more
doaj   +1 more source

Copeptin-based diagnosis of diabetes insipidus

Swiss Medical Weekly, 2020
Polyuria-polydipsia syndrome consists of the three main entities: central or nephrogenic diabetes insipidus and primary polydipsia. Reliable distinction between these diagnoses is essential as treatment differs substantially, with the wrong treatment ...
Julie Refardt, Mirjam Christ-Crain
doaj   +1 more source