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M Zhao, A X Wang, X Zhu, J J Yu, W Wang, D H Zhang, X L He, H Y He, X D Teng
Objective: To investigate the clinicopathologic and differential diagnostic features of glomus tumor of the kidney. Methods: Four cases of glomus tumor of the kidney were collected from the archives of Peking University Third Hospital, the Second Hospital of Tianjin Medical University, Ningbo Yinzhou Second Hospital and Zhejiang Provincial People's Hospital between January 2012 to June 2017; the clinical and radiologic features, histomorphology, immunohistochemistry, ultrastucture and prognosis were analyzed and the relevant literature was reviewed...
August 8, 2018: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
William Pedrosa, Juliana Beaudette Drummond, Beatriz Santana Soares, Antônio Ribeiro-Oliveira
OBJECTIVES: The water deprivation test (WDT) is widely used for the differential diagnosis of the polyuria-polydipsia syndrome (PPS). However, it is inconvenient and may not always be precise in differentiating partial forms of diabetes insipidus (DI) from primary polydipsia (PP). The aim of this study was to evaluate the results of a combined outpatient and inpatient overnight WDT protocol that included an overnight non-supervised period concerning its feasibility and safety. METHODS: Retrospective analysis of clinical data and laboratory results of 52 patients with PPS undergoing WDT in a single center was undertaken...
August 14, 2018: Endocrine Practice
Michael N Rozenfeld, Daniel J Podberesky
Gadolinium-based contrast agents (GBCAs) are widely used in medical imaging, with greater than 300 million doses administered since their introduction. The risk of adverse reactions is very low, and GBCAs were thought to be very safe until the discovery of nephrogenic systemic fibrosis (NSF). Since that time, gadolinium has been found to deposit throughout the body, including the brain, where it is visible on non-contrast T1-weighted MR images in people with normal renal function. The clinical effects of this deposition remain unknown and may not exist...
August 2018: Pediatric Radiology
Noriko Namatame-Ohta, Shuntaro Morikawa, Akie Nakamura, Kumihiro Matsuo, Masahide Nakajima, Kazuhiro Tomizawa, Yusuke Tanahashi, Toshihiro Tajima
Almost 90% of nephrogenic diabetes insipidus (NDI) is caused by mutations in the arginine vasopressin receptor 2 gene ( AVPR2 ) on the X chromosome. Herein, we reported clinical and biochemical parameters in four cases of three unrelated Japanese families and analyzed the status of the AVPR2. Two of the four patients had poor weight gain. However, in the male and female sibling cases, neither had poor weight gain while toddlers, but in the male sibling, episodes of recurrent fever, polyuria, and polydipsia led to the diagnosis of NDI at 4 years of age...
2018: Case Reports in Pediatrics
Wiebke Fenske, Julie Refardt, Irina Chifu, Ingeborg Schnyder, Bettina Winzeler, Juliana Drummond, Antônio Ribeiro-Oliveira, Tilman Drescher, Stefan Bilz, Deborah R Vogt, Uwe Malzahn, Matthias Kroiss, Emanuel Christ, Christoph Henzen, Stefan Fischli, Anke Tönjes, Beat Mueller, Jochen Schopohl, Jörg Flitsch, Georg Brabant, Martin Fassnacht, Mirjam Christ-Crain
BACKGROUND: The indirect water-deprivation test is the current reference standard for the diagnosis of diabetes insipidus. However, it is technically cumbersome to administer, and the results are often inaccurate. The current study compared the indirect water-deprivation test with direct detection of plasma copeptin, a precursor-derived surrogate of arginine vasopressin. METHODS: From 2013 to 2017, we recruited 156 patients with hypotonic polyuria at 11 medical centers to undergo both water-deprivation and hypertonic saline infusion tests...
August 2, 2018: New England Journal of Medicine
Nader Kasim, Bindiya Bagga, Alicia Diaz-Thomas
Background Idiopathic central diabetes insipidus (CDI) has been associated with intracranial pathologies that do not involve the structural pituitary gland or hypothalamus. The objective was to study the association between non-structural hypothalamic/pituitary intracranial pathologies (NSHPIP) with CDI and to review etiologies that may be contributory to the development of CDI. Methods A retrospective query of our intra-institutional database from 2006 to 2015. Children admitted diagnosed with diabetes insipidus (DI) (ICD-9 253...
July 27, 2018: Journal of Pediatric Endocrinology & Metabolism: JPEM
Stine Julie Tingskov, Tae-Hwan Kwon, Jørgen Frøkiær, Rikke Nørregaard
Lithium is widely used in the treatment of bipolar affective disorders, but often causes nephrogenic diabetes insipidus (NDI), a condition characterized by a severe urinary concentrating defect. Lithium-induced NDI is associated with dysregulation of the amiloride-sensitive epithelial sodium channel (ENaC), which is essential for renal sodium reabsorption. Sex hormones have been shown to affect the expression of aquaporin-2 (AQP2) and sodium transporters. Therefore, we evaluated whether tamoxifen (TAM), a selective estrogen receptor modulator (SERM), would affect lithium-induced dysregulation of ENaC subunits and natriuresis...
2018: Frontiers in Physiology
Alexandra J M Beunders, Manon H J Hillegers, Eline J Regeer, Marc G Vervloet, Carlo A J M Gaillard, Annemieke Dols
Lithium is the most effective maintenance therapy for patients with bipolar disorder. Important renal adverse effects of chronic lithium use include nephrogenic diabetes insipidus (prevalence circa 20%) and chronic kidney disease (prevalence circa 10-20% after 5-9 years of lithium use). Chronic lithium use is linked with slowly progressive chronic kidney disease, though it rarely leads to end-stage renal failure (prevalence of 0.5-1.5%). It is currently not possible to predict which patients are susceptible to renal complications of lithium use...
May 29, 2018: Nederlands Tijdschrift Voor Geneeskunde
Renfei Luo, Shan Hu, Qiaojuan Liu, Mengke Han, Feifei Wang, Miaojuan Qiu, Suchun Li, Xiaosa Li, Tianxin Yang, Xiaodong Fu, Weidong Wang, Chunling Li
Increasing evidence supports the important role of H2 S in renal physiology and the pathogenesis of kidney injury. Whether H2 S regulates water metabolism in the kidney and the potential mechanism are still unknown. The present study was conducted to determine the role of H2 S in urine concentration. Inhibition of both cystathionine-γ-lyase (CSE) and cystathionine-β-synthase (CBS), 2 major enzymes for endogenous H2 S production, with propargylglycine (PPG) and amino-oxyacetate (AOAA), respectively, caused increased urine output and reduced urine osmolality in mice that was associated with decreased expression of aquaporin (AQP)-2 in the renal inner medulla...
July 23, 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
Kerry A Layne, Paul I Dargan, John R H Archer, David M Wood
Every year, approximately 30 million magnetic resonance imaging (MRI) scans are enhanced with gadolinium-based contrast agents (GBCAs) worldwide. Although the development of nephrogenic systemic fibrosis in patients with renal impairment is well-documented, over recent years it has become apparent that exposure to GBCAs can potentially result in gadolinium deposition within human bone and brain tissue even in the presence of normal renal function. This review will address some of the controversies surrounding the safety of GBCA administration based on evidence from in vivo experiments, animal studies, and clinical studies...
July 22, 2018: British Journal of Clinical Pharmacology
Kevin T Yang, Tianxin Yang, J David Symons
The antidiuretic hormone vasopressin (VP) is produced by the hypothalamus, and is stored and secreted from the posterior pituitary. VP acts via VP type 2 receptors (V2Rs) on the basolateral membrane of principal cells of the collecting duct (CD) to regulate fluid permeability. The VP-evoked endocrine pathway is essential in determining urine concentrating capability. For example, a defect in any component of the VP signaling pathway can result in polyuria, polydipsia, and hypotonic urine, collectively termed diabetes insipidus (DI)...
July 18, 2018: American Journal of Physiology. Renal Physiology
Jocelyn Fotso Soh, Susana G Torres-Platas, Serge Beaulieu, Outi Mantere, Robert Platt, Istvan Mucsi, Sybille Saury, Suzane Renaud, Andrea Levinson, Ana C Andreazza, Benoit H Mulsant, Daniel Müller, Ayal Schaffer, Annemiek Dols, Pablo Cervantes, Nancy Cp Low, Nathan Herrmann, Birgitte M Christensen, Francesco Trepiccione, Tarek Rajji, Soham Rej
BACKGROUND: Lithium is the gold-standard treatment for bipolar disorder, is highly effective in treating major depressive disorder, and has anti-suicidal properties. However, clinicians are increasingly avoiding lithium largely due to fears of renal toxicity. Nephrogenic Diabetes Insipidus (NDI) occurs in 15-20% of lithium users and predicts a 2-3 times increased risk of chronic kidney disease (CKD). We recently found that use of statins is associated with lower NDI risk in a cross-sectional study...
July 16, 2018: BMC Psychiatry
Lesley J Scott
Intravenous gadobutrol [Gadovist™ (EU); Gadavist® (USA)] is a second-generation, extracellular non-ionic macrocyclic gadolinium-based contrast agent (GBCA) that is approved for use in paediatric (including term neonates) and adult patients undergoing diagnostic contrast-enhanced (CE) MRI for visualization of pathological lesions in all body regions or for CE MRA to evaluate perfusion and flow-related abnormalities. Its unique physicochemical profile, including its high thermostability and proton relaxation times, means that gadobutrol is formulated at twice the gadolinium ion concentration of other GBCAs, resulting in a narrower bolus and consequently, improved dynamic image enhancement...
July 13, 2018: Clinical Drug Investigation
Yılmaz Kor, Minjing Zou, Roua A Al-Rijjal, Dorota Monies, Brian F Meyer, Yufei Shi
BACKGROUND: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder caused by mutations in the CYP21A2. Congenital nephrogenic diabetes insipidus (NDI) is a rare X-linked recessive or autosomal recessive disorder caused by mutations in either AVPR2 or AQP2. Genotype-phenotype discordance caused by genetic mosaicism in CAH patients has not been reported, nor the concomitant CAH and NDI. CASE PRESENTATION: We investigated a patient with concomitant CAH and NDI from a consanguineous family...
July 11, 2018: BMC Medical Genetics
Aslı Celebi Tayfur, Tugce Karaduman, Merve Ozcan Turkmen, Dilara Sahin, Aysun Caltik Yılmaz, Bahar Buyukkaragoz, Ayse Derya Bulus, Hatice Mergen
OBJECTIVE: Congenital nephrogenic diabetes insipidus (CNDI) is a rare inherited disorder characterized by a renal insensitivity to the arginine vasopressin (AVP). In the majority of the cases, CNDI is caused by the mutations in the AVPR2 gene. Our objective is to report a novel mutation in AVPR2 gene causing CNDI in a 6-year-old boy presenting with growth failure and dull normal cognitive functions. METHODS: The proband was the third off-spring of non-consanguineous parents and had polyuria (4...
July 11, 2018: Journal of Clinical Research in Pediatric Endocrinology
Benjamin M Dropkin, Giovanna A Giannico, Peter A Reisz, David F Penson, Ryan S Hsi
Background: Nephrogenic adenoma is a benign lesion found in the genitourinary tract, often at sites of prior inflammation, and is characterized by tubular, papillary, or tubulopapillary structures. It is thought to arise from distal migration and implantation of renal tubular cells into the renal pelvis, ureter, bladder, or urethra. These tumors often resemble malignant neoplasms. Morphologic variants include small tubules, signet ring-like pattern, papillary formations, flat pattern, and vessel-like structures...
2018: Journal of Endourology Case Reports
André Gomes, Inês V da Silva, Cecília M P Rodrigues, Rui E Castro, Graça Soveral
Aquaporins (AQPs) are membrane channels widely distributed in human tissues. AQPs are essential for water and energy homeostasis being involved in a broad range of pathophysiological processes such as edema, brain injury, glaucoma, nephrogenic diabetes insipidus, salivary and lacrimal gland dysfunction, cancer, obesity and related metabolic complications. Compelling evidence indicates that AQPs are targets for therapeutic intervention with potential broad application. Nevertheless, efficient AQP modulators have been difficult to find due to either lack of selectivity and stability, or associated toxicity that hamper in vivo studies...
2018: Frontiers in Chemistry
Nicola Schieda, Jason I Blaichman, Andreu F Costa, Rafael Glikstein, Casey Hurrell, Matthew James, Pejman Jabehdar Maralani, Wael Shabana, An Tang, Anne Tsampalieros, Christian B van der Pol, Swapnil Hiremath
Purpose of review: Use of gadolinium-based contrast agents (GBCA) in renal impairment is controversial, with physician and patient apprehension in acute kidney injury (AKI), chronic kidney disease (CKD), and dialysis because of concerns regarding nephrogenic systemic fibrosis (NSF). The position that GBCA are absolutely contraindicated in AKI, category G4 and G5 CKD (estimated glomerular filtration rate [eGFR] < 30 mL/min/1.73 m2 ), and dialysis-dependent patients is outdated and may limit access to clinically necessary contrast-enhanced magnetic resonance imaging (MRI) examinations...
2018: Canadian Journal of Kidney Health and Disease
Bart J Kramers, Maatje D A van Gastel, Esther Meijer, Ron T Gansevoort
BACKGROUND: Currently, the vasopressin V2 receptor antagonist tolvaptan is the only available treatment for autosomal dominant polycystic kidney disease (ADPKD), but there are tolerability issues due to aquaretic side-effects such as polyuria. A possible strategy to ameliorate these side-effects may be addition of a thiazide diuretic, this is an established treatment in nephrogenic diabetes insipidus, a condition where vasopressin V2 receptor function is absent. CASE PRESENTATION: We describe a 46-year-old male ADPKD-patient, who was prescribed tolvaptan, which caused polyuria of around 5 l per day...
July 3, 2018: BMC Nephrology
Christopher J Rowan, Winny Li, Hovhannes Martirosyan, Steven Erwood, Di Hu, Yun-Kyo Kim, Sepideh Sheybani-Deloui, Jaap Mulder, Joshua Blake, Lin Chen, Norman D Rosenblum
Normal kidney function depends on the proper development of the nephron: the functional unit of the kidney. Reciprocal signaling interactions between the stroma and nephron progenitor compartment have been proposed to control nephron development. Here, we show that removal of hedgehog intracellular effector smoothened ( Smo -deficient mutants) in the cortical stroma results in an abnormal renal capsule, and an expanded nephron progenitor domain with an accompanying decrease in nephron number via a block in epithelialization...
July 9, 2018: Development
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