Results 61 to 70 of about 272 (120)

Feeding difficulties in infancy as an early symptom of different forms of diabetes insipidus – a series of cases

Pediatria Polska
Feeding disorders of infancy are common in paediatric practice. Among rare causes of this disturbance is diabetes insipidus (DI), which is a clinical syndrome characterized by polyuria, polydypsia and dehydration with hypernatraemia.
Katarzyna Anna Banasiak, Małgorzata Barbara Stańczyk, Elżbieta Szczepanik, Katarzyna Monika Krawiranda, Anita Janus, Kacper Piotr Kościelny, Marcin Tkaczyk   +6 more
doaj   +1 more source

Type 1 Bartter syndrome presenting as primary diabetes insipidus: a rare Case Report with 8-year follow-up

Frontiers in Genetics
Type 1 Bartter syndrome (BS), a rare autosomal recessive salt-losing tubulopathy, classically presents with hyponatremia, hypochloremia, hypokalemic alkalosis, and hyperreninemic hyperaldosteronism. We report a male patient with the atypical presentation
Huijuan Lu, Shaojun Liu, Jia Sun, Lijun Mou   +3 more
doaj   +1 more source

Central and nephrogenic diabetes insipidus: updates on diagnosis and management

Frontiers in Endocrinology
Diabetes insipidus (DI) is a rare endocrine disease involving antidiuretic hormone (ADH), encompassing both central and nephrogenic causes. Inability to respond to or produce ADH leads to inability of the kidneys to reabsorb water, resulting in hypotonic
Kathryn Flynn, Jennifer Hatfield, Kevin Brown, Nicole Vietor, Thanh Hoang   +4 more
doaj   +1 more source

Nephrogenic diabetes insipidus associated with a new mutation in the AVPR2 gene

Ожирение и метаболизм
Diabetes insipidus (DI) is an orphan disease clinically characterized by profound thirst and the excretion of large volumes of dilute urine. Nephrogenic diabetes insipidus (NDI) is characterized by resistance to the action of antidiuretic hormone (ADH ...
Y. A. Aleynikova, M. S. Berlovich, E. A. Pigarova, L. K. Dzeranova, M. S. Pankratova   +4 more
doaj   +1 more source

Absence of PKC-alpha attenuates lithium-induced nephrogenic diabetes insipidus.

PLoS ONE, 2014
Lithium, an effective antipsychotic, induces nephrogenic diabetes insipidus (NDI) in ∼40% of patients. The decreased capacity to concentrate urine is likely due to lithium acutely disrupting the cAMP pathway and chronically reducing urea transporter (UT ...
Jae H Sim, Nathaniel J Himmel, Sara K Redd, Fadi E Pulous, Richard T Rogers, Lauren N Black, Seongun M Hong, Tobias N von Bergen, Mitsi A Blount   +8 more
doaj   +1 more source

Effects of YM087 and VPA985 on the T237M mutant receptor functionality in nephrogenic diabetes insipidus

Türk Biyokimya Dergisi
Mutations detected in the AVPR2 gene (arginine vasopressin type 2 receptor) are known to cause nephrogenic diabetes insipidus (NDI). Several pharmacological chaperones (PCs) target misfolded AVPR2 proteins and rescue them from the quality control system ...
Avcu Elif Merve, Erdem Tuncdemir Beril, Saglar Ozer Emel   +2 more
doaj   +1 more source

Nephrogenic Diabetes Insipidus Affecting Three Males in Two Generations—Case Report and Review of the Literature

Children
Background: Nephrogenic diabetes insipidus (NDI) is defined as the inability of the kidney to concentrate urine owing to the insensitivity of the distal nephron to the antidiuretic hormone, arginine vasopressin.
Ramona Stroescu, Adela Chiriţă-Emandi, Maria Puiu, Flavia Chisavu, Ruxandra Steflea, Gabriela Doroş, Mihai Gafencu   +6 more
doaj   +1 more source

Severe lithium-induced nephrogenic diabetes insipidus: The diuresis paradox

South African Medical Journal
We report a case of profound nephrogenic diabetes insipidus (NDI) in which renal resistance to antidiuretic hormone results in dilute polyuria despite normal circulating concentrations.
G S Tatz, Marc Blockman, J A Dave, I L Ross   +3 more
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A Pedigree Study of Hereditary Diabetes Insipidus Caused by X Chromosome AVPR2 Gene Mutation

International Medical Case Reports Journal
Lei Li,* Yong Fan,* Guoli Du, Jing Xu, Sheng Jiang State Key Laboratory of Pathogenesis, Prevention and Treatment of High Incidence Diseases in Central Asia; Department of Endocrinology, The First Affiliated Hospital of Xinjiang Medical ...
Li L, Fan Y, Du G, Xu J, Jiang S
doaj  

Nephrogenic Diabetes Insipidus

, 1990
Contains fulltext : mmubn000001_101473788.pdf (Publisher’s version ) (Open Access)
openaire   +1 more source