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Salt wasting syndrom

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https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#1
Hannsjörg W Seyberth, Stefanie Weber, Martin Kömhoff
PURPOSE OF REVIEW: The clinical presentations of Bartter's syndrome and Gitelman's syndrome will be reviewed including two most recently described hypokalemic salt-losing tubulopathies. By taking the quite heterogeneous presentations and the apparently different pathophysiologies as the basis, the applicability of the physiologic classification has been tested. RECENT FINDINGS: According to the physiologic approach, salt-losing tubulopathies can be divided into two major groups (with completely different tubular defects): first, disorders of the thick ascending limb of Henle's loop (loop disorders); second, disorders of the distal convolute tubule (DCT disorders)...
November 30, 2016: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/27904113/fanconi-syndrome-associated-with-hyponatremia-in-two-patients-with-legionella-pneumonia
#2
Akihiro Ryuge, Yasuhiko Ito, Taishi Yamakawa, Hitoshi Tanaka, Hirotoshi Yasui, Shuko Mashimo, Kenshi Watanabe, Rie Nomura, Nobukazu Suganuma, Shoichi Maruyama
Legionella pneumophila is a cause of community-acquired pneumonia that is reported to induce electrolyte disorders, including hyponatremia, hypokalemia, and hypophosphatemia. We herein report two Japanese men with Legionella pneumonia and hyponatremia and hypophosphatemia. These findings were associated with an elevation of urinary low-molecular-weight tubular protein, including urinary β2-microglobulin, N-acetyl-β-D-glucosaminidase, the fractional excretion of phosphate and uric acid, and the presence of glycosuria and panaminoaciduria, suggesting that their electrolyte disorders had been caused by Fanconi syndrome...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27857783/hyponatremia-in-children-with-tuberculous-meningitis-a-hospital-based-cohort-study
#3
Prithi Inamdar, Sanjeevani Masavkar, Preeti Shanbag
BACKGROUND: Hyponatremia has long been recognized as a potentially serious metabolic consequence of tuberculous meningitis (TBM) occurring in 35-65% of children with the disease. The syndrome of inappropriate antidiuretic hormone (SIADH) secretion has for long been believed to be responsible for the majority of cases of hyponatremia in TBM. Cerebral salt wasting syndrome (CSWS) is being increasingly reported as a cause of hyponatremia in some of these children. AIM: This study was done to determine the frequency and causes of hyponatremia in children with TBM...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27776720/identifying-different-causes-of-hyponatremia-with-fractional-excretion-of-uric-acid
#4
Louis J Imbriano, Joseph Mattana, James Drakakis, John K Maesaka
BACKGROUND: There is controversy over the prevalence of the syndrome of inappropriate antidiuretic hormone secretion (SIADH) and cerebral or renal salt wasting (RSW), 2 syndromes with identical common clinical and laboratory parameters but different therapies. The traditional approach to the hyponatremic patient relies on volume assessment, but there are limitations to this method. METHODS: We used an algorithm that relies on fractional excretion of urate (FEurate) to evaluate patients with hyponatremia and present 4 illustrative cases...
October 2016: American Journal of the Medical Sciences
https://www.readbyqxmd.com/read/27677267/syndrome-related-stigma-in-the-general-social-environment-as-reported-by-women-with-classical-congenital-adrenal-hyperplasia
#5
Heino F L Meyer-Bahlburg, Jazmin A Reyes-Portillo, Jananne Khuri, Anke A Ehrhardt, Maria I New
Stigma defined as "undesired differentness" (Goffman, 1963) and subtyped as "experienced" or "enacted," "anticipated," and "internalized" has been documented for patients with diverse chronic diseases. However, no systematic data exist on the association of stigma with somatic intersexuality. The current report concerns women with classical congenital adrenal hyperplasia (CAH), the most prevalent intersex syndrome, and provides descriptive data on CAH-related stigma as experienced in the general social environment (excluding medical settings and romantic/sexual partners) during childhood, adolescence, and adulthood...
September 27, 2016: Archives of Sexual Behavior
https://www.readbyqxmd.com/read/27648267/fetal-urine-biochemistry-in-antenatal-bartter-syndrome-a-case-report
#6
Myriam L Rachid, Sophie Dreux, Isabelle Czerkiewicz, Georges Deschênes, Rosa Vargas-Poussou, Dominique Mahieu-Caputo, Jean-François Oury, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy responsible for renal salt wasting, and hence electrolyte disorders and dehydration. Prenatally, it is characterized by severe polyhydramnios caused by fetal polyuria. We studied for the first time fetal urine in a Bartter syndrome case and demonstrated that the tubulopathy is already present at 24 weeks of gestation.
September 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27603336/cerebral-salt-wasting-syndrome-in-a-child-with-wernicke-encephalopathy-treated-with-fludrocortisone-therapy-a-case-report
#7
Min Jeong Han, Soon Chul Kim, Chan Uhng Joo, Sun Jun Kim
RATIONALE FOR THIS CASE REPORT: Cerebral Salt-Wasting Syndrome (CSWS) is characterized by hyponatremia and sodium wasting in the urine. These conditions are triggered by various neurosurgical disorders such as subarachnoid hemorrhage, brain tumor, head injury, and brain surgery. To our knowledge, CSWS caused by Wernicke encephalopathy (WE) has been rarely reported. PRESENTING CONCERNS OF THE PATIENT: A 2-year-old male patient presented to our hospital due to a seizure attack...
September 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27582097/functionomics-of-ncc-mutations-in-gitelman-syndrome-using-a-novel-mammalian-cell-based-activity-assay
#8
Marco A Valdez-Flores, Rosa Vargas-Poussou, Sjoerd Verkaart, Omar A Z Tutakhel, Angel Valdez-Ortiz, Anne Blanchard, Cyrielle Treard, Joost G J Hoenderop, René J M Bindels, Sabina Jeleń
Gitelman syndrome (GS) is an autosomal recessive salt-wasting tubular disorder resulting from loss-of-function mutations in the thiazide-sensitive NaCl cotransporter (NCC). Functional analysis of these mutations has been limited to the use of Xenopus laevis oocytes. The aim of the present study was, therefore, to analyze the functional consequences of NCC mutations in a mammalian cell-based assay, followed by analysis of mutated NCC protein expression as well as glycosylation and phosphorylation profiles using human embryonic kidney (HEK) 293 cells...
December 1, 2016: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/27569354/-severe-hyponatremia-after-cisplatin-based-chemotherapy-two-case-reports
#9
Mari Ohtaka, Yusuke Hattori, Yohei Kumano, Yoko Maeda, Takuya Kondo, Taku Mochizuki, Takashi Kawahara, Jun-Ichi Teranishi, Yasuhide Miyoshi, Yasushi Yumura, Hiroji Uemura
Hyponatremia is one of the common electrolyte disorders associated with cisplatin (CDDP) administration. We report here two cases of hyponatremia associated with CDDP. Case 1 : A 75-year-old man with urothelial carcinoma of bladder (cT3N1M0) underwent neoadjuvant chemotherapy with CDDP and gemcitabine. He lost consciousness on the eighth day after the chemotherapy. Blood tests showed severe hyponatremia (Na 113 mEq/l), low plasma osmolality and high level of plasma vasopressin. Urine tests showed low osmolality...
July 2016: Hinyokika Kiyo. Acta Urologica Japonica
https://www.readbyqxmd.com/read/27545660/lower-body-weight-and-bmi-at-birth-were-associated-with-early-adiposity-rebound-in-21-hydroxylase-deficiency-patients
#10
Shigeru Takishima, Keisuke Nakajima, Risa Nomura, Atsumi Tsuji-Hosokawa, Nozomi Matsuda, Yohei Matsubara, Makoto Ono, Kentaro Miyai, Kei Takasawa, Tomohiro Morio, Yukihiro Hasegawa, Kenichi Kashimada
21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. In addition to the clinical problems caused by adrenal insufficiency and androgen excess, a risk for obesity and metabolic syndrome during young adulthood is a major ramification of the disease. Although glucocorticoid therapy is very likely to be one of the contributory factors, the precise causes of the metabolic status of adult 21-OHD patients remain to be clarified. Previously we reported that 21-OHD patients developed early onset AR, a condition which might create a risk for obesity and metabolic syndrome in adulthood...
November 30, 2016: Endocrine Journal
https://www.readbyqxmd.com/read/27500072/east-syndrome-clinical-pathophysiological-and-genetic-aspects-of-mutations-in-kcnj10
#11
REVIEW
Ola Abdelhadi, Daniela Iancu, Horia Stanescu, Robert Kleta, Detlef Bockenhauer
EAST syndrome is a recently described autosomal recessive disorder secondary to mutations in KCNJ10 (Kir4.1), a gene encoding a potassium channel expressed in the brain, eye, ear and kidney. This condition is characterized by 4 cardinal features; Epilepsy, Ataxia, Sensorineural deafness, and (a renal salt-wasting) Tubulopathy, hence the acronym EAST syndrome. Here we review reported clinical manifestations, in particular the neurological signs and symptoms which typically have the most impact on the quality of life of patients...
2016: Rare Diseases
https://www.readbyqxmd.com/read/27423581/a-study-of-hyponatremia-in-tuberculous-meningitis
#12
Usha K Misra, Jayantee Kalita, Sanjeev K Bhoi, Rajesh K Singh
SETTING: In view of paucity of studies on predictors of hyponatremia in tuberculous meningitis (TBM) and its influence on outcome, this study was undertaken. OBJECTIVE: To study the frequency, predictors and prognosis of hyponatremia in TBM. DESIGN: In this prospective hospital based study, 76 patients with TBM (definite 18 and probable 58) were enrolled. The severity of meningitis was graded as I-III and hyponatremia as severe (<120mEq/L), moderate (120-129mEq/L) or mild (130-134mEq/L)...
August 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27277374/bartter-syndrome-with-normal-aldosterone-level-an-unusual-presentation
#13
S S Huque, M H Rahman, S Khatun
Bartter syndrome (BS) is a hereditary disease, with an autosomal recessive or autosomal dominant mode of transmission. It is characterized by salt wasting hypochloraemic, hypokalaemic metabolic alkalosis and hyperreninaemia with normal blood pressure. The primary defect is in the thick ascending limb of loop of Henle (TAL). Herein, we report a case that had typical features of BS like severe dehydration, severe hypokalaemia, metabolic alkalosis and failure to thrive but had normal aldosterone level which is very uncommon...
April 2016: Mymensingh Medical Journal: MMJ
https://www.readbyqxmd.com/read/27213068/cerebral-salt-wasting-syndrome-following-head-injury-in-a-child-managed-successfully-with-fludrocortisone
#14
Nagendra Chaudhary, Santosh Pathak, Murli Manohar Gupta, Nikhil Agrawal
Cerebral salt wasting (CSW) syndrome is an important cause of hyponatremia in head injuries apart from syndrome of inappropriate antidiuretic hormone (SIADH). Proper diagnosis and differentiation between these two entities are necessary for management as the treatment is quite opposite in both conditions. Fludrocortisone can help in managing CSW where alone saline infusion does not work. We report a 17-month-old female child with head injury managed successfully with saline infusion and fludrocortisone.
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27168439/mage-d2-and-the-regulation-of-renal-salt-transporters
#15
EDITORIAL
Nine V A M Knoers, René J Bindels
No abstract text is available yet for this article.
May 12, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27129733/role-and-mechanisms-of-regulation-of-the-basolateral-kir-4-1-kir-5-1-k-channels-in-the-distal-tubules
#16
REVIEW
Oleg Palygin, Oleh Pochynyuk, Alexander Staruschenko
Epithelial K(+) channels are essential for maintaining electrolyte and fluid homeostasis in the kidney. It is recognized that basolateral inward-rectifying K(+) (Kir ) channels play an important role in the control of resting membrane potential and trans-epithelial voltage, thereby modulating water and electrolyte transport in the distal part of nephron and collecting duct. Monomeric Kir 4.1 (encoded by Kcnj10 gene) and heteromeric Kir 4.1/Kir 5.1 (Kir 4.1 together with Kir 5.1 (Kcnj16)) channels are abundantly expressed at the basolateral membranes of the distal convoluted tubule and the cortical collecting duct cells...
April 30, 2016: Acta Physiologica
https://www.readbyqxmd.com/read/27120771/polyhydramnios-transient-antenatal-bartter-s-syndrome-and-maged2-mutations
#17
Kamel Laghmani, Bodo B Beck, Sung-Sen Yang, Elie Seaayfan, Andrea Wenzel, Björn Reusch, Helga Vitzthum, Dario Priem, Sylvie Demaretz, Klasien Bergmann, Leonie K Duin, Heike Göbel, Christoph Mache, Holger Thiele, Malte P Bartram, Carlos Dombret, Janine Altmüller, Peter Nürnberg, Thomas Benzing, Elena Levtchenko, Hannsjörg W Seyberth, Günter Klaus, Gökhan Yigit, Shih-Hua Lin, Albert Timmer, Tom J de Koning, Sicco A Scherjon, Karl P Schlingmann, Mathieu J M Bertrand, Markus M Rinschen, Olivier de Backer, Martin Konrad, Martin Kömhoff
BACKGROUND: Three pregnancies with male offspring in one family were complicated by severe polyhydramnios and prematurity. One fetus died; the other two had transient massive salt-wasting and polyuria reminiscent of antenatal Bartter's syndrome. METHODS: To uncover the molecular cause of this possibly X-linked disease, we performed whole-exome sequencing of DNA from two members of the index family and targeted gene analysis of other members of this family and of six additional families with affected male fetuses...
May 12, 2016: New England Journal of Medicine
https://www.readbyqxmd.com/read/27070954/actinomycosis-mimicking-tolosa-hunt-syndrome-in-a-6-year-old-boy-case-report
#18
Diana G Douleh, Peter J Morone, Joyce E Johnson, Paisit Paueksakon, John C Wellons Iii
Tolosa-Hunt syndrome is an idiopathic inflammatory process of the cavernous sinus or orbit manifesting as painful ophthalmoplegia. In this report, we detail the case of a 6-year-old boy who presented with several weeks of unilateral headache and diplopia. He was found to have an infiltrative process involving the bilateral cavernous sinuses and pituitary gland on MRI. Given a progressing infiltrative central nervous system process on repeat MRI and the development of cerebral salt wasting, a biopsy was performed revealing actinomycosis...
2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27069970/cerebral-salt-wasting-syndrome-due-to-tuberculous-meningitis-a-case-report
#19
Syed Ahmad, Zain Majid, Mehwish Mehdi, Muhammed Mubarak
A 58-year-old male presented with fever, nausea, and vomiting since 15 days along with irritability and confusion since 5 days. His laboratory reports showed low serum sodium, serum osmolality and uric acid. Computerized tomography (CT) scan of brain revealed age-related changes. While on lumbar puncture (LP) and cerebrospinal fluid (CSF) examination, CSF protein, lactate dehydrogenase (LDH) and total leukocyte count (predominant lymphocytes) were all increased. On his 14th day of admission, his serum sodium was 116 mEq/l and he had a high urine output...
2016: Journal of Renal Injury Prevention
https://www.readbyqxmd.com/read/26965574/diagnosis-and-treatment-of-hyponatraemia-in-neurosurgical-patients
#20
Martín Cuesta, Mark J Hannon, Christopher J Thompson
Hyponatraemia is the most common electrolyte imbalance in neurosurgical patients. Acute hyponatraemia is particularly common in neurosurgical patients after any type of brain insult, including brain tumours and their treatment, pituitary surgery, subarachnoid haemorrhage or traumatic brain injury. Acute hyponatraemia is an emergency condition, as it leads to cerebral oedema due to passive osmotic movement of water from the hypotonic plasma to the relatively hypertonic brain which ultimately is the cause of the symptoms associated with hyponatraemia...
May 2016: Endocrinología y Nutrición: órgano de la Sociedad Española de Endocrinología y Nutrición
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