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Salt wasting syndrom

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https://www.readbyqxmd.com/read/28446151/novel-mutation-in-the-slc12a3-gene-in-a-sri-lankan-family-with-gitelman-syndrome-coexistent-diabetes-a-case-report
#1
Chandrika Jayakanthi Subasinghe, Nirmala Dushyanthi Sirisena, Chula Herath, Knut Erik Berge, Trond Paul Leren, Uditha Bulugahapitiya, Vajira Harshadeva Weerabaddana Dissanayake
BACKGROUND: Gitelman syndrome (GS) is a rare autosomal recessively inherited salt-wasting tubulopathy associated with mutations in the SLC12A3 gene, which encodes for NaCl cotransporter (NCC) in the kidney. CASE PRESENTATION: In this report, we describe two siblings from a Sri Lankan non-consanguineous family presenting with hypokalaemia associated with renal potassium wasting, hypomagnesemia, hypocalciuria and hypereninemic hyperaldosteronism with normal blood pressure...
April 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28433659/carbonic-anhydrase-xii-functions-in-health-and-disease
#2
REVIEW
Abdul Waheed, William S Sly
Human CAXII was initially identified as a cancer marker in different cancers and tumors. Expression of CAXII is regulated by hypoxia and estrogen receptors. CAXII expression has been also detected in several tissues, whereas in cancer and tumor tissues its expression is several fold higher. In brain tumors, an alternatively spliced form of CAXII is expressed. Higher expression of CAXII in breast cancer is indicative of lower grade disease. CAXII plays a key role in several physiological functions. Mutation in the CAXII gene causes cystic fibrosis-like syndrome and salt wasting disease...
April 19, 2017: Gene
https://www.readbyqxmd.com/read/28393593/a-study-of-hyponatremia-in-acute-encephalitis-syndrome-a-prospective-study-from-a-tertiary-care-center-in-india
#3
Usha Kant Misra, Jayantee Kalita, Rajesh Kumar Singh, Sanjeev Kumar Bhoi
PURPOSE: To evaluate the frequency and causes of hyponatremia in acute encephalitis syndrome (AES) and its effect on outcome. PATIENTS AND METHODS: Consecutive patients with AES were subjected to neurological evaluation including Glasgow Coma Scale, focal weakness, movement disorder, and reflex changes. The etiology of AES was based on blood and cerebrospinal fluid enzyme-linked immunosorbent assay and polymerase chain reaction. We have categorized patients into neurological or systemic AES...
January 1, 2017: Journal of Intensive Care Medicine
https://www.readbyqxmd.com/read/28377801/current-best-practice-in-the-management-of-patients-after-pituitary-surgery
#4
REVIEW
Alessandro Prete, Salvatore Maria Corsello, Roberto Salvatori
Sellar and parasellar masses are a common finding, and most of them are treated surgically via transsphenoidal approach. This type of surgery has revolutionized the approach to several hypothalamic-pituitary diseases and is usually effective, and well-tolerated by the patient. However, given the complex anatomy and high density of glandular, neurological and vascular structures in a confined space, transsphenoidal surgery harbors a substantial risk of complications. Hypopituitarism is one of the most frequent sequelae, with central adrenal insufficiency being the deficit that requires a timely diagnosis and treatment...
March 2017: Therapeutic Advances in Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28377333/prenatal-diagnosis-of-bartter-syndrome-amniotic-fluid-aldosterone
#5
Myriam Rachid, Sophie Dreux, Gauthier Pean de Ponfilly, Rosa Vargas-Poussou, Isabelle Czerkiewicz, Didier Chevenne, Jean-François Oury, Georges Deschênes, Françoise Muller
Bartter syndrome is a severe inherited tubulopathy characterized at birth by salt wasting, severe polyuria, dehydration, growth retardation and secondary hyperaldosteronism. Prenatally, the disease is usually discovered following onset of severe polyhydramnios. We studied amniotic fluid aldosterone concentration in cases of Bartter syndrome and in control groups. Amniotic fluid aldosterone was assayed by radioimmunoassay. We undertook a retrospective case-control study based on 36 cases of postnatally diagnosed Bartter syndrome and 144 controls matched for gestational age...
April 1, 2017: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/28321069/cerebral-salt-wasting-syndrome-and-inappropriate-antidiuretic-hormone-syndrome-after-subarachnoid-hemorrhaging
#6
Hanako Nakajima, Hiroshi Okada, Kazuki Hirose, Toru Murakami, Yayoi Shiotsu, Mayuko Kadono, Mamoru Inoue, Goji Hasegawa
Hyponatremia is a common finding after subarachnoid hemorrhaging (SAH) and can be caused by either cerebral salt-wasting syndrome (CSWS) or syndrome of inappropriate antidiuretic hormone (SIADH). Distinguishing between these two entities can be difficult because they have similar manifestations, including hyponatremia, serum hypo-osmolality, and high urine osmolality. We herein report the case of a 60-year-old man who suffered from SAH complicated by hyponatremia. During his initial hospitalization, he was diagnosed with CSWS...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28316939/application-of-established-pathophysiologic-processes-brings-greater-clarity-to-diagnosis-and-treatment-of-hyponatremia
#7
EDITORIAL
John K Maesaka, Louis J Imbriano, Nobuyuki Miyawaki
Hyponatremia, serum sodium < 135 mEq/L, is the most common electrolyte abnormality and is in a state of flux. Hyponatremic patients are symptomatic and should be treated but our inability to consistently determine the causes of hyponatremia has hampered the delivery of appropriate therapy. This is especially applicable to differentiating syndrome of inappropriate antidiuresis (SIAD) from cerebral salt wasting (CSW) or more appropriately, renal salt wasting (RSW), because of divergent therapeutic goals, to water-restrict in SIAD and administer salt and water in RSW...
March 6, 2017: World Journal of Nephrology
https://www.readbyqxmd.com/read/28302238/gitelman-syndrome
#8
Qurat Ul Ain Mustafa, Zujaja Hina Haroon, Aamir Ijaz, Muhammad Tanveer Sajid, Muhammad Ayyub
Gitelman syndrome (GS) is the most frequently inherited renal salt-wasting tubulointerstitial disease. It follows variable but usually asymptomatic benign course. We present a rare case of GS that remained clinical enigma. A 22-year male presented with severe episodic fatigue involving all limbs associated with episodes of sinking, palpitations, salt craving, increased thirst and frequent micturition hampering his routine daily activities. Laboratory workup revealed serum potassium, 2.7 mmol/L, serum magnesium, 0...
March 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28286482/restoration-of-epithelial-sodium-channel-function-by-synthetic-peptides-in-pseudohypoaldosteronism-type-1b-mutants
#9
Anita Willam, Mohammed Aufy, Susan Tzotzos, Heinrich Evanzin, Sabine Chytracek, Sabrina Geppert, Bernhard Fischer, Hendrik Fischer, Helmut Pietschmann, Istvan Czikora, Rudolf Lucas, Rosa Lemmens-Gruber, Waheed Shabbir
The synthetically produced cyclic peptides solnatide (a.k.a. TIP or AP301) and its congener AP318, whose molecular structures mimic the lectin-like domain of human tumor necrosis factor (TNF), have been shown to activate the epithelial sodium channel (ENaC) in various cell- and animal-based studies. Loss-of-ENaC-function leads to a rare, life-threatening, salt-wasting syndrome, pseudohypoaldosteronism type 1B (PHA1B), which presents with failure to thrive, dehydration, low blood pressure, anorexia and vomiting; hyperkalemia, hyponatremia and metabolic acidosis suggest hypoaldosteronism, but plasma aldosterone and renin activity are high...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28261769/evaluation-of-risk-factors-and-development-of-acute-kidney-injury-in-aneurysmal-subarachnoid-hemorrhage-head-injury-and-severe-sepsis-septic-shock-patients-during-icu-treatment
#10
Ceren Kamar, Achmet Ali, Demet Altun, Günseli Orhun, Akın Sabancı, Altay Sencer, İbrahim Özkan Akıncı
BACKGROUND: There are few studies examining development of acute kidney injury (AKI) in the various types of patients in intensive care units (ICUs). Presently described is evaluation of risk factors and development of AKI in different groups of ICU patients. METHODS: Present study was performed in 3 different ICUs. Development of AKI was measured using Acute Kidney Injury Network (AKIN) classification system. Total of 300 patients who were treated in trauma, neurosurgery, or general ICU departments (due to head injury, aneurysmal subarachnoid hemorrhage [aSAH], or severe sepsis/septic shock, respectively) were assessed for incidence, risk factors, and development of AKI...
January 2017: Ulusal Travma Ve Acil Cerrahi Dergisi, Turkish Journal of Trauma & Emergency Surgery: TJTES
https://www.readbyqxmd.com/read/28207417/adrenarche-unmasks-compound-heterozygous-3%C3%AE-hydroxysteroid-dehydrogenase-deficiency-c-244g-a-p-ala82thr-and-the-novel-931c-t-p-gln311-variant-in-a-non-salt-wasting-severely-undervirilised-46xy
#11
Stephanie Louise Teasdale, Adam Morton
3β-Hydroxysteroid dehydrogenase type II deficiency (3βHSD2) congenital adrenal hyperplasia is a rare cause of ambiguous genitalia, resulting in abnormal virilisation in both 46XY and 46XX. We describe a case of 46XY ambiguous genitalia that was misdiagnosed as androgen insensitivity syndrome. The correct diagnosis was made after adrenarche. Genotyping demonstrated compound heterozygosity in two alleles, the previously described c.244G>A (p.Ala82Thr), and a novel 931C>T(p.Gln311*) variant. We suggest that adrenarche unmasked the condition by driving cortisol production to rates that caused the mutant 3bHSD2 enzyme to become rate limiting for cortisol production...
March 1, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28194285/cerebral-salt-wasting-syndrome-caused-by-minor-head-injury
#12
Toshiki Fukuoka, Yuko Tsurumi, Arihito Tsurumi
A 34-year-old woman was admitted to hospital after sustaining a head injury in a motor vehicle accident (day 1). No signs of neurological deficit, skull fracture, brain contusion, or intracranial bleeding were evident. She was discharged without symptoms on day 4. However, headache and nausea worsened on day 8, at which time serum sodium level was noted to be 121 mEq/L. Treatment with sodium chloride was initiated, but serum sodium decreased to 116 mEq/L on day 9. Body weight decreased in proportion to the decrease in serum sodium...
2017: Case Reports in Emergency Medicine
https://www.readbyqxmd.com/read/28125972/gitelman-syndrome-in-a-south-african-family-presenting-with-hypokalaemia-and-unusual-food-cravings
#13
Pieter Du Toit van der Merwe, Megan A Rensburg, William L Haylett, Soraya Bardien, M Razeen Davids
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive renal tubular disorder characterised by renal salt wasting with hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is caused by mutations in SLC12A3 encoding the sodium-chloride cotransporter on the apical membrane of the distal convoluted tubule. We report a South African family with five affected individuals presenting with hypokalaemia and unusual food cravings. METHODS: The affected individuals and two unaffected first degree relatives were enrolled into the study...
January 26, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/28110888/cerebral-salt-wasting-is-the-most-common-cause-of-hyponatremia-in-stroke
#14
Jayantee Kalita, Rajesh Kumar Singh, Usha Kant Misra
OBJECTIVE: The study aimed to evaluate the frequency, severity, and causes of hyponatremia in stroke and its influence on outcome. MATERIALS AND METHODS: Consecutive computed tomography- or magnetic resonance imaging-proven stroke patients within 7 days of stroke were included. Severity of stroke was assessed using the National Institute of Health Stroke Scale and consciousness using the Glasgow Coma Scale. Hyponatremia was defined if 2 consecutive serum sodium levels were <135 mEq/L and hypernatremia if >145 mEq/L...
January 16, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/27967227/sodium-and-water-imbalance-after-sellar-suprasellar-and-parasellar-surgery
#15
Zareen Kiran, Aisha Sheikh, Sehrish Nizar Ali Momin, Isra Majeed, Safia Awan, Owais Rashid, Najmul Islam
OBJECTIVE: To report the frequency of sodium and water disturbances (SWDs) in patients undergoing sellar, suprasellar, and parasellar surgery (SSPS). METHODS: We conducted a cross-sectional, retrospective study on 115 patients in the Aga Khan University Hospital after ethical approval. Patients were 16 years old or older undergoing pituitary or sellar surgeries. We collected data on basic sociodemographic characteristics and clinical indication for surgery. We noted laboratory values for serum electrolytes, plasma and urine osmolality, urine sodium, and 24-hour fluid balance from the immediate postoperative day until discharge and follow-up...
March 2017: Endocrine Practice
https://www.readbyqxmd.com/read/27924287/transient-oliguria-during-anesthesia-in-cerebral-salt-wasting-syndrome
#16
Kwang Ho Lee, Jong Taek Park, Dong Woo Cho, Seung Woo Song, Hyun Kyo Lim
Cerebral salt wasting syndrome is a hyponatremic and hypovolemic condition caused by intracranial disorders, such as head injury, subarachnoid hemorrhage, brain tumor, and brain operations. We report a case of a 5-year-old girl that had cerebral salt wasting syndrome with marked polyuria who showed transient oliguria during general anesthesia. The patient had undergone an operation for traumatic intracranial hemorrhage three months prior and has had marked polyuria and hyponatremia since then. After induction of anesthesia for cranioplasty, the patient had oliguria during surgery and then resumed polyuria in the post-operative period...
September 2016: Journal of Lifestyle Medicine
https://www.readbyqxmd.com/read/27906863/bartter-s-and-gitelman-s-syndrome
#17
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
#18
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
#19
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
#20
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
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