Results 1 to 10 of about 2,169 (157)

A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man [PDF]

AACE Clinical Case Reports, 2021
Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a heterozygous AVP gene mutation.A case of familial neurogenic DI has been described with thorough clinical ...
Mohamed K M Shakir, Thanh D Hoang
exaly   +4 more sources

Buccally Administered Intranasal Desmopressin Acetate for the Treatment of Neurogenic Diabetes Insipidus in Infancy [PDF]

Journal of Clinical Endocrinology and Metabolism, 2016
The treatment of neurogenic diabetes insipidus (DI) in infancy is challenging and complicated by fluid overload and dehydration. Therapy with subcutaneous (SC), intranasal (IN), or oral tablet desmopressin acetate (1-desamino-8-D-arginine vasopressin [DDAVP]) remains difficult to titrate in infants.Assess the efficacy and safety of buccally ...
Philippe F Backeljauw, Iris Gutmark-Little   +1 more
exaly   +3 more sources

Diabetes mellitus and pregnancy in Wolfram syndrome type 1: a case report with review of clinical and pathophysiological aspects. [PDF]

Front Med (Lausanne)
Wolfram syndrome type 1 (WS1) is a rare genetic disorder characterized primarily by non-autoimmune diabetes mellitus, optic atrophy, deafness, and diabetes insipidus.
Caretto A, Scarascia Mugnozza F, Valsecchi F, Pedone E, Pozzoni M, Rosa S, Laurenzi A, Frontino G, Chimienti R, Piemonti L, Scavini M.   +10 more
europepmc   +3 more sources

Hypokalemic Periodic Paralysis Developed in a Patient with Neurogenic Diabetes Insipidus [PDF]

Journal of the Korean Neurological Association, 2021
Hypokalemic periodic paralysis one of the channelopathy disorders with low serum potassium level, clinically presenting as acute onset extremity weakness. In most cases, the cause of the hypokalemia is familial, but rarely hypokalemic periodic paralysis occurs secondary to other diseases including endocrinopathies, renal disorders, gastrointestinal ...
Jihyeon Hwang, Joo Hye Sung, Ye Eun Kim, Keonyeup Kim, Seong-Hwan Kim, Young Bin Park, Seol-Hee Baek   +6 more
openaire   +1 more source

A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus [PDF]

, 2019
Given the limited lifespan and with the recent progress in experimental treatments for WS, timely diagnosis and multidisciplinary treatment for DI/DM, hydronephrosis, and visual/psychiatric status-maintaining quality of life-are of crucial ...
Delides, Alexandros, Dinopoulos, Argyrios, Kleanthous, Kleanthis, Manolakos, Emmanouil, Mastorakos, Georgios, Nikolopoulos, Thomas, Papadimitriou, Anastasios, Papadimitriou, Dimitrios T, Tiulpakov, Anatoly, Urano, Fumihiko, Voros, Gerasimos, Zoupanos, George   +11 more
core   +2 more sources

Wolfram syndrome: case report [PDF]

, 2004
Wolfram syndrome consists of the association of diabetes mellitus with optic atrophy. Other common findings are deafness, urinary tract and neurological disorders.
Chen, Jane, Chicani, Carlos Filipe, Fontes, Bruno Machado, Príncipe, André Hasler, Sallum, Juliana Maria Ferraz   +4 more
core   +2 more sources

A Case of Hypokalemic Paralysis in a Patient With Neurogenic Diabetes Insipidus [PDF]

The Neurohospitalist, 2013
Acute hypokalemic paralysis is characterized by muscle weakness or paralysis secondary to low serum potassium levels. Neurogenic diabetes insipidus (DI) is a condition where the patient excretes large volume of dilute urine due to low levels of antidiuretic hormone.
Frederic N, Nguyen, Jitesh K, Kar, Monica, Verduzco-Gutierrez, Asma, Zakaria   +3 more
openaire   +2 more sources

Phenotypic characteristics of early Wolfram syndrome [PDF]

, 2013
BACKGROUND: Wolfram Syndrome (WFS:OMIM 222300) is an autosomal recessive, progressive, neurologic and endocrinologic degenerative disorder caused by mutations in the WFS1 gene, encoding the endoplasmic reticulum (ER) protein wolframin, thought to be ...
Alexander R Paciorkowski, Amy Viehover, Bess A Marshall, James Hoekel, Jon Wasson, Joshua S Shimony, Linda Manwaring, M Alan Permutt, Neil H White, null null, Paul Austin, Roanne Karzon, Tamara Hershey, Timothy E Hullar   +13 more
core   +2 more sources

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

Variable Expressivity of Wolfram Syndrome in a Family with Multiple Affected Subjects [PDF]

, 2021
Purpose: To study the genetic basis and clinical manifestations of Wolfram syndrome in a multi-affected family. Methods: Complete clinical examinations including urological, ophthalmic, neurological, and endocrinologic assessment were performed for three
Doozandeh, Azadeh, Mirrahimi, Mehraban, Mohammadzadeh, Maryam, Safi, Sare, Suri, Fatemeh   +4 more
core   +2 more sources