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nephrogenic diabetes insipidus

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https://www.readbyqxmd.com/read/29657217/systemic-lupus-erythematosus-with-sj%C3%A3-gren-s-syndrome-and-renal-tubular-acidosis-presenting-as-nephrogenic-diabetes-insipidus
#1
Ashaq Hussain Parrey, Fayaz Ahmad, Mushtaq Ahmad, Adil Basher
Systemic lupus erythematosus (SLE) presenting as diabetes insipidus (DI) is a rare association; there is a case report of neurogenic DI in patients of SLE; however, SLE and nephrogenic DI has not been reported in literature. We present a case of SLE presenting as nephrogenic DI. We report a case who presented with DI (nephrogenic) and fulfilled criteria for SLE and Sjögren's syndrome with renal tubular acidosis.
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29650969/akaps-pka-disruptors-increase-aqp2-activity-independently-of-vasopressin-in-a-model-of-nephrogenic-diabetes-insipidus
#2
Fumiaki Ando, Shuichi Mori, Naofumi Yui, Tetsuji Morimoto, Naohiro Nomura, Eisei Sohara, Tatemitsu Rai, Sei Sasaki, Yoshiaki Kondo, Hiroyuki Kagechika, Shinichi Uchida
Congenital nephrogenic diabetes insipidus (NDI) is characterized by the inability of the kidney to concentrate urine. Congenital NDI is mainly caused by loss-of-function mutations in the vasopressin type 2 receptor (V2R), leading to impaired aquaporin-2 (AQP2) water channel activity. So far, treatment options of congenital NDI either by rescuing mutant V2R with chemical chaperones or by elevating cyclic adenosine monophosphate (cAMP) levels have failed to yield effective therapies. Here we show that inhibition of A-kinase anchoring proteins (AKAPs) binding to PKA increases PKA activity and activates AQP2 channels in cortical collecting duct cells...
April 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29611351/effects-of-sildenafil-metformin-and-simvastatin-on-adh-independent-urine-concentration-in-healthy-volunteers
#3
Anneke P Bech, Jack F M Wetzels, Tom Nijenhuis
Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by resistance of the kidney to the action of antidiuretic hormone (ADH), resulting in a decrease in the capacity of the kidney to concentrate the urine. NDI can be inherited or acquired due to, for example, chronic lithium therapy. Current treatment options are limited to attempts to lower urine output by a low-solute diet and the use of diuretics or anti-inflammatory drugs. These measures are only partially effective. Recent reports suggested that sildenafil, metformin, and simvastatin might improve ADH-independent urine concentration...
April 2018: Physiological Reports
https://www.readbyqxmd.com/read/29607573/lithium-and-nephrotoxicity-unravelling-the-complex-pathophysiological-threads-of-the-lightest-metal
#4
REVIEW
J Davis, M Desmond, M Berk
While lithium remains the most efficacious treatment for bipolar disorder, it can cause significant nephrotoxicity. The molecular mechanisms behind both this process and the development of nephrogenic diabetes insipidus still remain to be fully elucidated but appear to involve alterations in glycogen synthase kinase 3 signalling, G2 cell cycle progression arrest, alterations in inositol and prostaglandin signalling pathways, and dysregulated trafficking and transcription of aquaporin 2 water channels. The end result of this is a tubulointerstitial nephropathy with microcyst formation and relative glomerular sparing, both visible on pathology specimens and increasingly noted on non-invasive imaging...
April 1, 2018: Nephrology
https://www.readbyqxmd.com/read/29594432/novel-and-recurrent-variants-in-avpr2-in-19-families-with-x-linked-congenital-nephrogenic-diabetes-insipidus
#5
Shivani Joshi, Helene Kvistgaard, Konstantinos Kamperis, Mia Færch, Søren Hagstrøm, Niels Gregersen, Søren Rittig, Jane Hvarregaard Christensen
Congenital nephrogenic diabetes insipidus (CNDI) is characterized by the reduced ability of renal collecting duct cells to reabsorb water in response to the antidiuretic effect of vasopressin. Chronic polyuria and polydipsia are the hallmarks of the disease. Approximately 90% of all patients with CNDI have X-linked inherited disease caused by variants in the arginine vasopressin receptor 2 (AVPR2) gene. We present genetic findings in 34 individuals from 19 kindreds including one or more family members with CNDI...
March 28, 2018: European Journal of Pediatrics
https://www.readbyqxmd.com/read/29542224/hyperactivation-of-nrf2-leads-to-hypoplasia-of-bone-in-vivo
#6
Eiki Yoshida, Takafumi Suzuki, Masanobu Morita, Keiko Taguchi, Kohei Tsuchida, Hozumi Motohashi, Minoru Doita, Masayuki Yamamoto
Keap1 is a negative regulator of Nrf2, a master transcription factor that regulates cytoprotection against oxidative and electrophilic stresses. Although several studies have suggested that the Keap1-Nrf2 system contributes to bone formation besides the maintenance of redox homeostasis, how Nrf2 hyperactivation by Keap1 deficiency affects the bone formation remains to be explored, as the Keap1-null mice are juvenile lethal. To overcome this problem, we used viable Keap1-deficient mice that we have generated by deleting the esophageal Nrf2 in Keap1-null mice (NEKO mice)...
March 15, 2018: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/29527380/bartter-syndrome-type-1-presenting-as-nephrogenic-diabetes-insipidus
#7
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29512817/treatment-of-congenital-nephrogenic-diabetes-insipidus-in-pregnancy
#8
Agnieszka Gala-Błądzińska, Adam Mrozek, Aleksandra Kędzior, Artur Mazur, Dorota Darmochwał-Kolarz
No abstract text is available yet for this article.
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29499256/resolution-of-diabetes-insipidus-after-pyeloplasty-a-case-report-and-review-of-the-literature
#9
Christina P Carpenter, Ashley Rawson, David S Hains, Dana W Giel
Nephrogenic diabetes insipidus (NDI), a rare cause of polyuria and polydipsia in children, is usually managed with medications and careful monitoring of water intake. We present a child who was incidentally found to have right hydronephrosis secondary to ureteropelvic junction obstruction, and was subsequently also diagnosed with NDI. After being medically managed, he underwent open right pyeloplasty. His polydipsia abated within one month of surgery, and he has done well off of medications since that time...
February 27, 2018: Urology
https://www.readbyqxmd.com/read/29489607/nephrogenic-diabetes-insipidus-in-childhood-assessment-of-volume-status-and-appropriate-fluid-replenishment
#10
Stefano Guarino, Mario Diplomatico, Rosaria Marotta, Anna Pecoraro, Daniela Furlan, Lorenzo Cerrone, Emanuele Miraglia Del Giudice, Cesare Polito, Angela La Manna, Pierluigi Marzuillo
Patients affected by nephrogenic diabetes insipidus (NDI) can present with hypernatremic dehydration, and first-line rehydration schemes are completely different from those largely applied in usual conditions determining a mild to severe hypovolemic dehydration/shock. In reporting the case of a patient affected by NDI and presenting with severe dehydration triggered by acute pharyngotonsillitis and vomiting, we want to underline the difficulties in managing this condition. Restoring the free-water plasma amount in patients affected by NDI may not be easy, but some key points can help in the first line management of these patients: (1) hypernatremic dehydration should always be suspected; (2) even in presence of severe dehydration, skin turgor may be normal and therefore the skinfold recoll should not be considered in the dehydration assessment; (3) decreased thirst is an important red flag for dehydration; (4) if an incontinent patient with NDI appears to be dehydrated, it is important to place the urethral catheter to accurately measure urine output and to be guided in parenteral fluid administration; (5) if the intravenous route is necessary, the more appropriate fluid replenishment is 5% dextrose in water with an infusion rate that should slightly exceed the urine output; (6) the 0...
February 28, 2018: Pediatric Emergency Care
https://www.readbyqxmd.com/read/29479446/use-of-acetazolamide-in-lithium-induced-nephrogenic-diabetes-insipidus-a-case-report
#11
Ricardo A Macau, Tiago Nunes da Silva, Joana Rego Silva, Ana Gonçalves Ferreira, Pedro Bravo
Lithium-induced nephrogenic diabetes insipidus (Li-NDI) is a rare and difficult-to-treat condition. A study in mice and two recent papers describe the use of acetazolamide in Li-NDI in 7 patients (a case report and a 6 patient series). We describe the case of a 63-year-old woman with bipolar disorder treated with lithium and no previous history of diabetes insipidus. She was hospitalized due to a bowel obstruction and developed severe dehydration after surgery when she was water deprived. After desmopressin administration and unsuccessful thiazide and amiloride treatment, acetazolamide was administrated to control polyuria and hydroelectrolytic disorders without significant side effects...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29478202/activation-of-aqp2-water-channels-without-vasopressin-therapeutic-strategies-for-congenital-nephrogenic-diabetes-insipidus
#12
REVIEW
Fumiaki Ando, Shinichi Uchida
Congenital nephrogenic diabetes insipidus (NDI) is characterized by defective urine concentrating ability. Symptomatic polyuria is present from birth, even with normal release of the antidiuretic hormone vasopressin by the pituitary. Over the last two decades, the aquaporin-2 (AQP2) gene has been cloned and the molecular mechanisms of urine concentration have been gradually elucidated. Vasopressin binds to the vasopressin type II receptor (V2R) in the renal collecting ducts and then activates AQP2 phosphorylation and trafficking to increase water reabsorption from urine...
February 24, 2018: Clinical and Experimental Nephrology
https://www.readbyqxmd.com/read/29464737/copeptin-role-in-polyuria-polydipsia-syndrome-differential-diagnosis-and-reference-range-in-paediatric-age
#13
Gerdi Tuli, Daniele Tessaris, Silvia Einaudi, Patrizia Matarazzo, Luisa De Sanctis
OBJECTIVE: Plasma arginine-vasopressin (AVP) analysis can help in the differential diagnosis of the polyuria-polydipsia syndrome (PPS), even if such investigation is hampered by technical difficulties, conversely to its surrogate copeptin. This study aims to enlarge the existing data on normal copeptin levels in childhood, to evaluate the correlation between copeptin, serum sodium and plasma and urine osmolality, and to assess the utility of the copeptin analysis in the diagnostic work-up of PPS in the paediatric age...
February 21, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29463074/diabetes-insipidus-in-pregnancy-how-to-advice-the-patient
#14
Julie Refardt, Mirjam Christ-Crain
Diabetes insipidus, characterized by polyuria and polydipsia, is a rare disease during pregnancy. Nevertheless, its recognition is important to avoid complications due to dehydration and hypernatremia. Its manifestation during pregnancy ranges from exacerbation of pre-existing central or nephrogenic diabetes insipidus to transient pregnancy-induced diabetes insipidus due to the increased metabolism of the antidiuretic hormone vasopressin by the placental vasopressinase. Diagnosis can be challenging, as urinary frequency is common during pregnancy and primary polydipsia also needs to be excluded...
February 19, 2018: Minerva Endocrinologica
https://www.readbyqxmd.com/read/29460326/time-for-change-renaming-diabetes-insipidus-to-improve-patient-safety
#15
Malcolm Prentice
Diabetes Insipidus (DI) is a name given historically to two conditions, which result in 'diabetes', which is Greek for 'syphon' or polyuria. The "Insipidus" refers to urine being insipid. 'Cranial DI' is so called because it relates to a cause within the head characterised by deficiency of vasopressin [antidiuretic hormone (ADH)] secretion from the posterior pituitary. Treatment is with desmopressin, a synthetic long-acting analogue of vasopressin. In contrast 'Nephrogenic DI' is due to resistance of the renal tubules to vasopressin action...
February 20, 2018: Clinical Endocrinology
https://www.readbyqxmd.com/read/29422070/copeptin-levels-and-commonly-used-laboratory-parameters-in-hospitalised-patients-with-severe-hypernatraemia-the-co-med-study
#16
Nicole Nigro, Bettina Winzeler, Isabelle Suter-Widmer, Philipp Schuetz, Birsen Arici, Martina Bally, Julie Refardt, Matthias Betz, Gani Gashi, Sandrine A Urwyler, Lukas Burget, Claudine A Blum, Andreas Bock, Andreas Huber, Beat Müller, Mirjam Christ-Crain
BACKGROUND: Hypernatraemia is common in inpatients and is associated with substantial morbidity. Its differential diagnosis is challenging, and delayed treatment may have devastating consequences. The most important hormone for the regulation of water homeostasis is arginine vasopressin, and copeptin, the C-terminal portion of the precursor peptide of arginine vasopressin, might be a reliable new parameter with which to assess the underlying cause of hypernatraemia. METHODS: In this prospective, multicentre, observational study conducted in two tertiary referral centres in Switzerland, 92 patients with severe hyperosmolar hypernatraemia (Na+  > 155 mmol/L) were included...
February 9, 2018: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29394883/contiguous-22-1-kb-deletion-embracing-avpr2-and-arhgap4-genes-at-novel-breakpoints-leads-to-nephrogenic-diabetes-insipidus-in-a-chinese-pedigree
#17
Ying Bai, Yibing Chen, Xiangdong Kong
BACKGROUND: It has been reported that mutations in arginine vasopressin type 2 receptor (AVPR2) cause congenital X-linked nephrogenic diabetes insipidus (NDI). However, only a few cases of AVPR2 deletion have been documented in China. METHODS: An NDI pedigree was included in this study, including the proband and his mother. All NDI patients had polyuria, polydipsia, and growth retardation. PCR mapping, long range PCR and sanger sequencing were used to identify genetic causes of NDI...
February 2, 2018: BMC Nephrology
https://www.readbyqxmd.com/read/29357422/tamoxifen-attenuates-development-of-lithium-induced-nephrogenic-diabetes-insipidus-in-rats
#18
Stine Julie Tingskov, Shan Hu, Jorgen Frøkiær, Tae-Hwan Kwon, Weidong Wang, Rikke Norregaard
Lithium is widely used in treatment of bipolar affective disorders, but often causes nephrogenic diabetes insipidus (NDI), a disorder characterized by severe urinary concentrating defects. Lithium-induced NDI is caused by lithium uptake by collecting duct principal cells and altered expression of aquaporin-2 (AQP2), which are essential for water reabsorption of tubular fluid in the collecting duct. Sex hormones have previously been shown to affect the regulation of AQP2, so we tested whether tamoxifen (TAM), a selective estrogen receptor modulator, would attenuate lithium-induced alterations on renal water homeostasis...
January 10, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29241593/rapid-differential-diagnosis-of-diabetes-insipidus-in-a-7-month-old-infant-the-copeptin-approach
#19
J Vergier, J Fromonot, A Alvares De Azevedo Macedo, A Godefroy, E Marquant, R Guieu, M Tsimaratos, R Reynaud
INTRODUCTION: Diabetes insipidus is characterized by hypoosmotic polyuria related to deficiency of arginine-vasopressin (AVP) secretion (central diabetes insipidus, CDI) or renal insensitivity to AVP (nephrogenic diabetes insipidus, NDI). The water deprivation test with assessment of AVP activity is currently the gold standard for differential diagnosis in patients presenting polyuria-polydipsia syndrome. Nevertheless, it can be dangerous without proper surveillance and its interpretation may be challenging...
January 2018: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29186911/prostaglandin-e2-in-the-regulation-of-water-transport-in-renal-collecting-ducts
#20
REVIEW
Yuyuan Li, Yuanyi Wei, Feng Zheng, Youfei Guan, Xiaoyan Zhang
The kidney plays a central role in the regulation of the body water balance. The process of targeting the water channel aquaporin-2 (AQP2) on the apical plasma membrane of the collecting duct (CD) principal cells is mainly regulated by the antidiuretic peptide hormone arginine vasopressin (AVP), which is responsible for the maintenance of water homeostasis. Recently, much attention has been focused on the local factors modulating renal water reabsorption by AQP2 in the collecting ducts, especially prostaglandin E2 (PGE₂)...
November 27, 2017: International Journal of Molecular Sciences
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