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https://www.readbyqxmd.com/read/29465034/-hypercalcaemia-due-to-the-milk-alkali-syndrome
#1
Tamina Rokai Etemadi, Helle Skovmand Bosselmann
This case report is about an 87-year-old woman with Alzheimer's disease and the milk-alkali syndrome, who took calcium carbonate as osteoporosis prophylaxis. We describe, how the milk-alkali syndrome can result in a triad of hypercalcaemia, metabolic alkalosis, and renal insufficiency. The syndrome is now the third most common cause of hypercalcaemia because of the use of calcium carbonate in osteoporosis prophylaxis and treatment, and the syndrome should be considered in patients with hypercalcaemia, as it may result in permanent renal impairment...
February 12, 2018: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/29459793/consequences-of-spak-inactivation-on-hyperkalemic-hypertension-caused-by-wnk1-mutations-evidence-for-differential-roles-of-wnk1-and-wnk4
#2
Chloé Rafael, Christelle Soukaseum, Véronique Baudrie, Perrine Frère, Juliette Hadchouel
Mutations of the gene encoding WNK1 [With No lysine (K) kinase 1] or WNK4 cause Familial Hyperkalemic Hypertension (FHHt). Previous studies have shown that the activation of SPAK (Ste20-related Proline/Alanine-rich Kinase) plays a dominant role in the development of FHHt caused by WNK4 mutations. The implication of SPAK in FHHt caused by WNK1 mutation has never been investigated. To clarify this issue, we crossed WNK1+/FHHt mice with SPAK knock-in mice in which the T-loop Thr243 residue was mutated to alanine to prevent activation by WNK kinases...
February 19, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29442545/novel-compound-heterozygous-clcnkb-gene-mutations-c-1755a-g-c-848_850deltct-cause-classic-bartter-syndrome
#3
Chunli Wang, Ying Chen, Bixia Zheng, Mengshu Zhu, Jia Fan, Juejin Wang, Zhanjun Jia, Songming Huang, Aihua Zhang
Inactivated variants in CLCNKB gene encoding the basolateral chloride channel ClC-Kb cause classic Bartter syndrome characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism. Here we identified two cBS siblings presenting hypokalemia in a Chinese family due to novel compound heterozygous CLCNKB mutations (c.848_850delTCT/c.1755A>G). Compound heterozygosity was confirmed by amplifying and sequencing the patient's genomic DNA. The synonymous mutation c.1755A>G (Thr585Thr) was located at +2bp from the 5' splice donor site in exon 15, further transcript analysis demonstrated that this single nucleotide mutation causes exclusion of exon 15 in the cDNA from the proband and his mother...
February 14, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29442351/milk-alkali-syndrome-mas-as-a-complication-of-the-treatment-of-hypoparathyroidism
#4
Agata Skwarek, Janusz Pachucki, Tomasz Bednarczuk, Zuzanna Żurecka, Michał Popow
Milk-alkali syndrome (MAS), characterized by renal failure, metabolic alkalosis and hypercalcemia, is a severe and life-threatening complication of the treatment of hypoparathyroidism. The clinical course is often sudden and is not preceded by any prodromal symptoms. Occurrence does not depend on the duration of hypoparathyroidism treatment, although it is closely related to the applied therapy, especially the dose of calcium carbonate and active vitamin D preparations. Drugs influencing the glomerular filtration rate (angiotensin receptor blockers, sartans, aldosterone receptor antagonists, thiazide diuretics), lack of adequate routine control, changing the calcium carbonate supplementation, dehydration, a diet rich in pH-basic foods (i...
February 14, 2018: Endokrynologia Polska
https://www.readbyqxmd.com/read/29421779/nephropathic-cystinosis-mimicking-bartter-syndrome-a-novel-mutation
#5
Funda Bastug, Hulya Nalcacioglu, Fatih Ozaltin, Emine Korkmaz, Sibel Yel
Cystinosis is a rare autosomal recessive disorder resulting from defective lysosomal transport of cystine due to mutations in the cystinosin lysosomal cystine transporter (CTNS) gene. The clinical phenotype of nephropathic cystinosis is characterized by renal tubular Fanconi syndrome and development of end-stage renal disease during the first decade. Although metabolic acidosis is the classically prominent finding of the disease, a few cases may present with hypokalemic metabolic alkalosis mimicking Bartter syndrome...
January 2018: Iranian Journal of Kidney Diseases
https://www.readbyqxmd.com/read/29417593/medical-findings-in-1-026-consecutive-adult-inpatient-residential-eating-disordered-patients
#6
Philip S Mehler, Dan V Blalock, Keegan Walden, Simrat Kaur, Jennifer McBride, Kristine Walsh, Jennifer Watts
OBJECTIVE: Eating disorders are associated with multiple medical complications. We report contemporary medical data, for newly admitted adult inpatient and residential level of care patients. METHOD: Medical records of a transdiagnostic sample of 1,026 patients, with eating disorders, were retrospectively reviewed for the presence of a broad array of medical complications at time of admission. The prevalence of physiologically relevant medical complications was assessed across major eating disorder categories...
February 8, 2018: International Journal of Eating Disorders
https://www.readbyqxmd.com/read/29403282/two-mutations-in-the-thiazide-sensitive-nacl-co-transporter-gene-in-a-romanian-gitelman-syndrome-patient-case-report
#7
Cristina Gug, Adelina Mihaescu, Ioana Mozos
Background: Gitelman syndrome (GS) is considered as the most common renal tubular disorder, and we report the first Romanian patient with GS confirmed at molecular level and diagnosed according to genetic testing. Patient and methods: This paper describes the case of a 27-year-old woman admitted with severe hypokalemia, slight hypomagnesemia, hypocalcemia, hypocalciuria, metabolic alkalosis, hyperreninemia, low blood pressure, limb muscle weakness, marked fatigue and palpitations...
2018: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/29385285/itraconazole-induced-hypertension-and-hypokalemia-mechanistic-evaluation
#8
Wesley J Hoffmann, Ian McHardy, George R Thompson
We describe a case of apparent mineralocorticoid excess (hypertension, hypokalemia, metabolic alkalosis, and low plasma renin activity) secondary to itraconazole therapy. Inhibition of 11β-hydroxysteroid dehydrogenase 2 was demonstrated, and withholding itraconazole led to resolution of adverse effects that did not recur with voriconazole. This report adds to a growing body of evidence linking apparent mineralocorticoid excess with certain triazoles. This article is protected by copyright. All rights reserved...
January 31, 2018: Mycoses
https://www.readbyqxmd.com/read/29378538/a-novel-compound-heterozygous-variant-of-the-slc12a3-gene-in-gitelman-syndrome-pedigree
#9
Yixin Chen, Ziyi Zhang, Xihua Lin, Qianqian Pan, Fenping Zheng, Hong Li
BACKGROUND: Gitelman syndrome (GS) is an autosomal recessive disorder caused by genic mutations of SLC12A3 (Solute carrier family 12 member 3), which encodes the Na-Cl cotransporter (NCC), and presents with characteristic metabolic abnormalities, including hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria. In this study, we report a case of a GS pedigree, including analysis of GS-associated gene mutations. METHODS: We performed next-generation sequencing analysis and Sanger sequencing to explore the SLC12A3 mutations in a GS pedigree that included a 35-year-old female patient with GS and five family members within three generations...
January 29, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29375229/coexistence-of-gitelman-syndrome-and-hypertrophic-cardiomyopathy-in-a-pregnant-woman
#10
Abdullah Nabi Aslan, Serkan Sivri, Murat Can Güney, Telat Keleş Prof
Gitelman syndrome (GS) is transmitted as an autosomal recessive trait and characterized by hypokalemic metabolic alkalosis in combination with significant hypomagnesemia and low urinary calcium excretion. The symptoms and severity of the disease can vary greatly from one person to another and can range from mild to severe. Sudden cardiac arrest has been reported occasionally as well. Here, for the first time, we reported a 34-year-old pregnant GS woman who was diagnosed to have hypertrophic obstructive cardiomyopathy during her cardiac examination for the complaints of palpitation and presyncope...
January 2018: Acta Cardiologica Sinica
https://www.readbyqxmd.com/read/29359573/retrospective-review-of-hydrochloric-acid-infusion-for-the-treatment-of-metabolic-alkalosis-in-surgical-intensive-care-unit-patients
#11
Jason D Guffey, Curtis E Haas, Amber Crowley, Kathryn A Connor, David C Kaufman
BACKGROUND: Older reports of use of hydrochloric acid (HCl) infusions for treatment of metabolic alkalosis document variable dosing strategies and risk. OBJECTIVES: This study sought to characterize use of HCl infusions in surgical intensive care unit patients for the treatment of metabolic alkalosis. METHODS: This retrospective review included patients who received a HCl infusion for >8 hours. The primary end point was to evaluate the utility of common acid-base equations for predicting HCl dose requirements...
January 1, 2018: Annals of Pharmacotherapy
https://www.readbyqxmd.com/read/29348282/acquired-pyloric-stenosis-resulting-in-hypokalaemic-hyperchloraemic-normal-anion-gap-metabolic-acidosis-persistent-vomiting-in-an-adult-cause-and-effect
#12
Philip Kaye
A 24-year-old woman presented with a history of persistent vomiting for at least 3 months. This resulted in severe dehydration with risk of acute kidney injury. In addition to volume depletion, loss of gastric fluid resulted in a specific metabolic derangement-hypokalaemic, hypochloraemic normal anion gap metabolic alkalosis with a reduced ionised calcium concentration and paradoxical aciduria. These metabolic changes were reflected in her ECG. Investigation demonstrated acquired gastric outflow tract obstruction secondary to a pyloric peptic ulcer...
January 17, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29344508/acid-base-and-electrolyte-disorders-in-patients-with-and-without-chronic-kidney-disease-an-update
#13
REVIEW
Tsering Dhondup, Qi Qian
Kidneys play a pivotal role in the maintenance and regulation of acid-base and electrolyte homeostasis, which is the prerequisite for numerous metabolic processes and organ functions in the human body. Chronic kidney diseases compromise the regulatory functions, resulting in alterations in electrolyte and acid-base balance that can be life-threatening. In this review, we discuss the renal regulations of electrolyte and acid-base balance and several common disorders including metabolic acidosis, alkalosis, dysnatremia, dyskalemia, and dysmagnesemia...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29310825/potassium-intake-modulates-the-thiazide-sensitive-sodium-chloride-cotransporter-ncc-activity-via-the-kir4-1-potassium-channel
#14
Ming-Xiao Wang, Catherina A Cuevas, Xiao-Tong Su, Peng Wu, Zhong-Xiuzi Gao, Dao-Hong Lin, James A McCormick, Chao-Ling Yang, Wen-Hui Wang, David H Ellison
Kir4.1 in the distal convoluted tubule plays a key role in sensing plasma potassium and in modulating the thiazide-sensitive sodium-chloride cotransporter (NCC). Here we tested whether dietary potassium intake modulates Kir4.1 and whether this is essential for mediating the effect of potassium diet on NCC. High potassium intake inhibited the basolateral 40 pS potassium channel (a Kir4.1/5.1 heterotetramer) in the distal convoluted tubule, decreased basolateral potassium conductance, and depolarized the distal convoluted tubule membrane in Kcnj10flox/flox mice, herein referred to as control mice...
January 6, 2018: Kidney International
https://www.readbyqxmd.com/read/29298718/s737f-is-a-new-cftr-mutation-typical-of-patients-originally-from-the-tuscany-region-in-italy
#15
Vito Terlizzi, Antonella Miriam Di Lullo, Marika Comegna, Claudia Centrone, Elisabetta Pelo, Giuseppe Castaldo, Valeria Raia, Cesare Braggion
BACKGROUND: An increasing number of patients have been described as having a number of Cystic Fibrosis Transmembrane conductance Regulator (CFTR) variants for which it lacks a clear genotype-phenotype correlation. We assesses the clinical features of patients bearing the S737F (p.Ser737Phe) CFTR missense variant and evaluated the residual function of CFTR protein on nasal epithelial cells (NEC). METHODS: A retrospective database was performed from individuals homozygous or compound heterozygous for the S737F variant followed in the Cystic Fibrosis (CF) Centre of Florence...
January 3, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29285423/renal-intercalated-cells-and-blood-pressure-regulation
#16
REVIEW
Susan M Wall
Type B and non-A, non-B intercalated cells are found within the connecting tubule and the cortical collecting duct. Of these cell types, type B intercalated cells are known to mediate Cl- absorption and HCO3- secretion largely through pendrin-dependent Cl-/HCO3- exchange. This exchange is stimulated by angiotensin II administration and is also stimulated in models of metabolic alkalosis, for instance after aldosterone or NaHCO3 administration. In some rodent models, pendrin-mediated HCO3- secretion modulates acid-base balance...
December 2017: Kidney Research and Clinical Practice
https://www.readbyqxmd.com/read/29203429/oxidative-stress-in-urea-cycle-disorders-findings-from-clinical-and-basic-research
#17
REVIEW
Belisa Parmeggiani, Carmen Regla Vargas
Inborn errors of metabolism (IEM) comprise a group of over 600 disorders, each with a specific metabolic impairment due to a genetic defect. Urea cycle disorders (UCD) are IEM that affect the nitrogen disposal system, leading to hyperammonemia and the accumulation of other toxic metabolites in tissues of affected patients. UCD arise from mutations in the genes coding any of the enzymes participating in the urea cycle, either directly or as regulators of this pathway, causing severe respiratory alkalosis. Considering that the exact mechanisms underlying the damage found in UCD, the purpose of this minireview is to obtain data and search for links between UCD and oxidative stress, a phenomenon common to several IEM...
December 1, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29187232/long-term-continuous-renal-replacement-therapy-and-anticoagulation-with-citrate-in-critically-ill-patients-with-severe-liver-dysfunction
#18
Matthias Klingele, Theresa Stadler, Danilo Fliser, Timo Speer, Heinrich V Groesdonk, Alexander Raddatz
BACKGROUND: As of 2009, anticoagulation with citrate was standard practice in continuous renal replacement therapy (CRRT) for critically ill patients at the University Medical Centre of Saarland, Germany. Partial hepatic metabolism of citrate means accumulation may occur during CRRT in critically ill patients with impaired liver function. The aim of this study was to evaluate the actual influence of hepatic function on citrate-associated complications during long-term CRRT. METHODS: In a retrospective study conducted between January 2009 and November 2012, all cases of dialysis therapy performed in the interdisciplinary surgical intensive care unit were analysed...
November 29, 2017: Critical Care: the Official Journal of the Critical Care Forum
https://www.readbyqxmd.com/read/29185591/safety-and-efficacy-of-regional-citrate-anticoagulation-in-continuous-blood-purification-treatment-of-patients-with-multiple-organ-dysfunction-syndrome
#19
B Tuerdi, L Zuo, H Sun, K Wang, Z Wang, G Li
The aim of this study was to discuss the safety and efficacy of regional citrate anticoagulation (RCA) on continuous blood purification (CBP) during the treatment of multiple organ dysfunction syndrome (MODS). Thirty-five patients with MODS were divided into two groups: the local citrate anticoagulation (RCA) group, and the heparin-free blood purification (hfBP) group. The MODS severity was assessed according to Marshall's MODS score criteria. Blood coagulation indicators, blood pressure, filter lifespan, filter replacement frequency, anticoagulation indicators, and main metabolic and electrolyte indicators were analyzed and compared between RCA and hfBP groups...
November 17, 2017: Brazilian Journal of Medical and Biological Research, Revista Brasileira de Pesquisas Médicas e Biológicas
https://www.readbyqxmd.com/read/29181745/salicylate-intoxication-in-an-infant-a-case-report
#20
Rita Espírito Santo, Sara Vaz, Filipa Jalles, Leonor Boto, Francisco Abecasis
In children, the most common cause of an elevated anion gap (AG) with ketonemia, ketonuria, hyperglycemia, and glycosuria is diabetic ketoacidosis. However, when the clinical history is not clear, other causes must be considered. A 9-month-old girl was transferred to our pediatric intensive care unit (PICU) because of severe metabolic acidosis. On admission, she presented with Kussmaul breathing, tachycardia, irritability, and fever. Blood gasses revealed metabolic acidosis with superimposed respiratory alkalosis and elevated AG...
November 27, 2017: Drug Safety—Case Reports
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