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The natural history of untreated X-linked nephrogenic diabetes insipidus with mutation in the vasopressin V2 receptor gene.
CEN Case Rep
December 2024
Department of Woman, Child and of General and Specialized Surgery, Università degli studi della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Naples, Italy.
Nephrogenic diabetes insipidus (NDI) results from the kidneys' inability to concentrate urine. We describe a 6-month-old male with a history of poor weight gain who presented with an incidental finding of hypernatremia (155 mEq/L) during an episode of acute gastroenteritis. The arginine vasopressin (AVP) test, along with molecular analysis revealing the M272R mutation in the AVP receptor 2 (AVPR2) gene, confirmed the diagnosis of congenital NDI.
View Article and Find Full Text PDFSyndrome of Inappropriate Antidiuresis.
J Am Soc Nephrol
December 2024
Department of Medicine, University of Rochester School of Medicine and Dentistry, Rochester, New York.
Syndrome of inappropriate antidiuresis (SIAD)-the most frequent cause of hypotonic hyponatremia-is mediated by nonosmotic release of arginine vasopressin, which promotes water retention by activating renal vasopressin type 2 (V2) receptors. There are numerous causes of SIAD, including malignancy, pulmonary and central nervous system diseases, and medications. Rare activating mutations of the V2 receptor can also cause SIAD.
View Article and Find Full Text PDFBiased activation of the vasopressin V2 receptor probed by molecular dynamics simulations, NMR and pharmacological studies.
Comput Struct Biotechnol J
December 2024
Centre de Biologie Structurale (CBS), Univ Montpellier, INSERM, CNRS, 34090, Montpellier, France.
G protein-coupled receptors (GPCRs) control critical cell signaling. Their response to extracellular stimuli involves conformational changes to convey signals to intracellular effectors, among which the most important are G proteins and β-arrestins (βArrs). Biased activation of one pathway is a field of intense research in GPCR pharmacology.
View Article and Find Full Text PDFAn adolescent girl with syndrome of inappropriate antidiuretic hormone secretion preceding the diagnosis of olfactory neuroblastoma - a case report.
Front Endocrinol (Lausanne)
October 2024
Division of Pediatric Endocrinology, Department of Pediatrics, Hasbro Children's Hospital, Providence, RI, United States.
Article Synopsis
- - A 13-year-old girl diagnosed with SIADH (Syndrome of Inappropriate Antidiuretic Hormone) after restrictive eating had normal initial brain MRIs, later revealing olfactory neuroblastoma (ONB) 2.5 years post-diagnosis.
- - Initial treatments for SIADH included fluid restriction, which was somewhat effective, but the condition recurred post-surgery for ONB, indicating persistence of SIADH even after successful tumor removal.
- - The case emphasizes the need for healthcare providers to consider the possibility of ONB when evaluating children with unexplained SIADH, recommending earlier imaging and endoscopy if no clear cause is found.
Extreme hypernatremia after a laparoscopic hysterectomy and bilateral salpingo-oophorectomy: a case report and literature review.
Front Surg
October 2024
Department of Laboratory Medicine, West China Hospital, Sichuan University, Chengdu, China.
Article Synopsis
- * A case study details an unusual instance of NDI in a 50-year-old Chinese woman who developed symptoms after cervical cancer surgery, leading to a diagnosis through various tests and genetic analysis revealing a specific mutation.
- * The patient improved significantly after a low-sodium diet and medication, highlighting the necessity of specialized tests to accurately diagnose and manage NDI, even in older females, where it's less common.
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