keyword
https://read.qxmd.com/read/38265765/reverse-phenotypes-of-patients-with-genetically-confirmed-liddle-s-syndrome
#21
JOURNAL ARTICLE
Granhøj Jeff, Nøhr Thomas K, Hinrichs Gitte R, Rasmussen Maria, Svenningsen Per
BACKGROUND: Liddle syndrome was initially characterized by hypertension, hypokalemia, metabolic alkalosis, and suppressed plasma renin and aldosterone, resulting from gain-of-function variants in the epithelial Na+ channel (ENaC). Efficient treatment with ENaC inhibitors is available, but the phenotypic spectrum of genetically confirmed Liddle syndrome is unknown, and some patients may remain undiagnosed and risk inefficient treatment. Here, we used a reverse-phenotyping approach to investigate the Liddle syndrome phenotypic spectrum and genotype-phenotype correlations...
January 24, 2024: Clinical Journal of the American Society of Nephrology: CJASN
https://read.qxmd.com/read/38239047/tumor-therapy-by-targeting-extracellular-hydroxyapatite-using-novel-drugs-a-paradigm-shift
#22
JOURNAL ARTICLE
Mohammed N Tantawy, J Oliver McIntyre, Fiona Yull, M Wade Calcutt, Dmitry S Koktysh, Andrew J Wilson, Zhongliang Zu, Jeff Nyman, Julie Rhoades, Todd E Peterson, Daniel Colvin, Lisa J McCawley, Jerri M Rook, Barbara Fingleton, Marta Ann Crispens, Ronald D Alvarez, John C Gore
BACKGROUND: It has been shown that tumor microenvironment (TME) hydroxyapatite (HAP) is typically associated with many malignancies and plays a role in tumor progression and growth. Additionally, acidosis in the TME has been reported to play a key role in selecting for a more aggressive tumor phenotype, drug resistance and desensitization to immunotherapy for many types of cancers. TME-HAP is an attractive target for tumor detection and treatment development since HAP is generally absent from normal soft tissue...
January 18, 2024: Cancer Medicine
https://read.qxmd.com/read/38229782/iv-colistin-a-rare-cause-of-bartter-like-syndrome-in-adults
#23
Saiesh Dessai, Hemant Deshpande
Bartter syndrome is a genetic condition characterized by autosomal recessive inheritance, resulting in impaired salt reabsorption and clinical manifestations such as low/normal blood pressure and extracellular fluid volume depletion. Multiple abnormalities of the electrolytes, including decreased potassium as well as chloride levels and, in some instances, hypomagnesemia, are its defining features. Metabolic alkalosis, hypokalaemia, hypocalcemia, and hypomagnesemia, together with adequate renal function, are all components of the Bartter-like syndrome...
December 2023: Curēus
https://read.qxmd.com/read/38229209/citrate-anticoagulation-in-plasma-exchange-followed-by-continuous-renal-replacement-therapy-in-critically-ill-children
#24
JOURNAL ARTICLE
Zhang Xinping, He Jie, Yao Zhenya, Zhu Desheng, Zhou Xiong
OBJECTIVE: To investigate the effectiveness and safety of regional citrate-anticoagulated (RCA) plasma exchange (PE) and whether citrate-related metabolic disorders can be improved by sequential RCA continuous renal replacement therapy (CRRT). METHODS: This retrospective, single-center observational study included 79 critically ill children requiring PE followed by CRRT (June 2018 to June 2021) at the Pediatric Intensive Care Unit of Hunan Children's Hospital, China...
January 16, 2024: International Journal of Artificial Organs
https://read.qxmd.com/read/38221598/secretin-a-hormone-for-hco-3-homeostasis
#25
REVIEW
Peder Berg, Samuel L Svendsen, Niklas Ayasse, Mads Vaarby Sorensen, Jens Leipziger
Secretin is a key hormone of the intestinal phase of digestion which activates pancreatic, bile duct and Brunner gland HCO3 - secretion. Recently, the secretin receptor (SCTR) was also found in the basolateral membrane of the beta-intercalated cell (B-IC) of the collecting duct. Experimental addition of secretin triggers a pronounced activation of urinary HCO3 - excretion, which is fully dependent on key functional proteins of the B-IC, namely apical pendrin and CFTR and the basolateral SCTR. Recent studies demonstrated that the SCTR knock-out mouse is unable to respond to an acute base load...
January 15, 2024: Pflügers Archiv: European Journal of Physiology
https://read.qxmd.com/read/38195948/novel-functions-of-the-anion-exchanger-ae4-slc4a9
#26
REVIEW
Helga Vitzthum, Catherine Meyer-Schwesinger, Heimo Ehmke
The kidney plays a crucial role in acid-base homeostasis. In the distal nephron, α-intercalated cells contribute to urinary acid (H+ ) secretion and β-intercalated cells accomplish urinary base (HCO3 - ) secretion. β-intercalated cells regulate the acid base status through modulation of the apical Cl- /HCO3 - exchanger pendrin (SLC26A4) activity. In this review, we summarize and discuss our current knowledge of the physiological role of the renal transporter AE4 (SLC4A9). The AE4, as cation-dependent Cl- /HCO3 - exchanger, is exclusively expressed in the basolateral membrane of β-intercalated cells and is essential for the sensing of metabolic acid-base disturbances in mice, but not for renal sodium reabsorption and plasma volume control...
January 9, 2024: Pflügers Archiv: European Journal of Physiology
https://read.qxmd.com/read/38188109/the-effect-of-diminished-metabolic-acidosis-on-thermoregulatory-response-during-exercise
#27
JOURNAL ARTICLE
Tomasz Mikulski, Monika Górecka, Jerzy Smorawiński, Krzysztof Rachwalski, Jakub Kryściak, Krystyna Nazar, Andrzej W Ziemba
It was reported that metabolic acidosis inhibits the activity of warm-sensitive hypothalamic neurons. The present study was designed to test the hypothesis that metabolic alkalosis may improve heat loss during intensive exercise in men. Fifteen male subjects aged 22-24 years were submitted to incremental exercise on two randomized occasions one week apart. During the bicarbonate trial exercise was preceded by ingestion of NaHCO3 at a dose 250 mg/kg whilst during the placebo trial lactose was administered. Exercise load was increased every 3 min by 30 W until volitional exhaustion...
January 2024: Biology of Sport
https://read.qxmd.com/read/38165475/a-previously-healthy-3-year-old-female-with-hypertension-proteinuria-and-hypercalciuria
#28
JOURNAL ARTICLE
Tao Liu, Wenhong Wang, Zhufeng Liu, Guanghua Pei, Chunxiang Wang, Ying Jiang, Chuyue Pang
A 3-year-old female patient with no significant medical history presented to her pediatrician with foamy urine. Initial testing revealed moderate proteinuria on qualitative testing, although she was incidentally noted to have severe hypertension (240/200 mmHg). Physical examination of the carotid and femoral areas revealed significant systolic vascular murmurs. Labs showed elevated serum creatinine, hypokalemia, metabolic alkalosis, elevated renin and aldosterone and hypercalciuria. Echocardiography identified ventricular hypertrophy...
January 2, 2024: Pediatric Nephrology
https://read.qxmd.com/read/38152600/pseudo-gitelman-syndrome-presenting-with-hypokalemic-metabolic-alkalosis-and-hypocalciuria
#29
Seung Heon Lee, Sukyung Lee, Hyunsung Kim, Gheun-Ho Kim
Pseudo-Bartter syndrome is a well-known differential diagnosis that needs to be excluded in cases of normotensive hypokalemic metabolic alkalosis. Pseudo-Bartter syndrome and pseudo-Gitelman syndrome are often collectively referred to as pseudo-Bartter/Gitelman syndrome; however, pseudo-Gitelman syndrome should be considered as a separate entity because Gitelman syndrome is characterized by hypocalciuria and hypomagnesemia, while Bartter syndrome is usually associated with hypercalciuria. Herein, we report the cases of two young adult female patients who presented with severe hypokalemic metabolic alkalosis, hypocalciuria, and hypomagnesemia...
December 2023: Electrolyte & Blood Pressure: E & BP
https://read.qxmd.com/read/38152002/strategies-to-combat-heat-stress-in-poultry-production-a-review
#30
REVIEW
Modou Mangan, Maria Siwek
The effects of heat stress (HS) caused by high temperatures continue to be a global concern in poultry production. Poultry birds are homoeothermic, however, modern-day chickens are highly susceptible to HS due to their inefficiency in dissipating heat from their body due to the lack of sweat glands. During HS, the heat load is higher than the chickens' ability to regulate it. This can disturb normal physiological functioning, affect metabolism and cause behavioural changes, respiratory alkalosis and immune dysregulation in birds...
December 27, 2023: Journal of Animal Physiology and Animal Nutrition
https://read.qxmd.com/read/38144646/an-unusual-complication-secondary-to-kanamycin-use-in-a-patient-of-multidrug-resistant-pulmonary-tuberculosis
#31
Sajin Mathews, Sachinkumar Dole, Madhusudan Barthwal, Tushar Sahasrabudhe
Gitelman syndrome (GS) is a rare genetic renal disease characterized by hypomagnesemia, hypokalemia, hypocalciuria, and metabolic alkalosis. It usually presents in late childhood or early adulthood. A 30-year-old female diagnosed case of multidrug-resistant (MDR-TB) pulmonary tuberculosis 2 months ago presented to our outpatient department with intermittent painful spasms in all four limb muscles. Her treatment regimen consisted of kanamycin, levofloxacin, cycloserine, and ethionamide. On further evaluation, her investigations revealed hypokalemia, hypocalcemia, hypomagnesemia, metabolic alkalosis with normal serum creatinine level...
December 2023: Medical Journal, Armed Forces India
https://read.qxmd.com/read/38132452/a-comparative-kidney-transcriptome-analysis-of-bicarbonate-loaded-insrr-null-mice
#32
JOURNAL ARTICLE
E A Gantsova, O V Serova, D Eladari, D M Bobrovskiy, A G Petrenko, A V Elchaninov, I E Deyev
The maintenance of plasma pH is critical for life in all organisms. The kidney plays a critical role in acid-base regulation in vertebrates by controlling the plasma concentration of bicarbonate. The receptor tyrosine kinase IRR (insulin receptor-related receptor) is expressed in renal β-intercalated cells and is involved in alkali sensing due to its ability to autophosphorylate under alkalization of extracellular medium (pH > 7.9). In mice with a knockout of the insrr gene, which encodes for IRR, urinary bicarbonate secretion in response to alkali loading is impaired...
December 4, 2023: Current Issues in Molecular Biology
https://read.qxmd.com/read/38127207/metabolic-disturbances-potentially-attributable-to-clogging-during-continuous-renal-replacement-therapy
#33
JOURNAL ARTICLE
Mattia M Müller, Larina Caspar, Onur Sazpinar, Daniel A Hofmaenner, Rolf Erlebach, Rea Andermatt, Christoph C Ganter, Reto A Schuepbach, Pedro D Wendel-Garcia, Sascha David
BACKGROUND: Clogging is characterized by a progressive impairment of transmembrane patency in renal replacement devices and occurs due to obstruction of pores by unknown molecules. If citrate-based anti-coagulation is used, clogging can manifest as a metabolic alkalosis accompanied by hypernatremia and hypercalcemia, primarily a consequence of Na3 Citrate infusion. An increased incidence of clogging has been observed during the COVID-19 pandemic. However, precise factors contributing to the formation remain uncertain...
December 21, 2023: Intensive Care Medicine Experimental
https://read.qxmd.com/read/38125241/adrenocorticotropin-dependent-ectopic-cushing-s-syndrome-a-case-report
#34
André Rebelo Matos, André Martins, Maria J Barbosa, Inês Quinteiro, Diogo Faustino, Rita Gameiro, Luísa Azevedo
Paraneoplastic syndromes are rare and diverse conditions caused by either an abnormal chemical signaling molecule produced by tumor cells or a body's immune response against the tumor itself. These syndromes can manifest in a variable, multisystemic and often nonspecific manner posing a diagnostic challenge. We report the case of an 81-year-old woman who exhibited severe hypokalemia, metabolic alkalosis, and worsening hyperglycemia. The investigation was consistent with adrenocorticotropin (ACTH)-dependent Cushing's syndrome and, eventually, the patient was diagnosed with stage IV primary small-cell lung cancer (SCLC)...
November 2023: Curēus
https://read.qxmd.com/read/38115360/gitelman-syndrome-combined-with-diabetes-mellitus-a-case-report-and-literature-review
#35
REVIEW
Xiaoyan Huang, Miaohui Wu, Lunpan Mou, Yaping Zhang, Jianjia Jiang
RATIONALE: Gitelman syndrome (GS) is an uncommon autosomal recessive tubulopathy resulting from a functional deletion mutation in the SLC12A3 gene. Its onset is typically insidious and challenging to discern, and it is characterized by hypokalemia, metabolic alkalosis, and reduced urinary calcium excretion. There is limited literature on the diagnosis and management of GS in individuals with concomitant diabetes. PATIENT CONCERNS: A 36-year-old male patient with a longstanding history of diabetes exhibited suboptimal glycemic control...
December 15, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/38097490/severe-alkalemia-and-hypokalemia-after-chronic-exposure-to-alkaline-water
#36
Khizer Rizvi, Stanley Abraham, Jonathan Gong, Joshua Nogar
Consumption of alkaline electrolyzed water (AEW) has become increasingly popular for consumer use. Although these alkaline water products are now commonly used, they are of questionable health benefit. Some individuals believe that it may help their dyspepsia. Furthermore, there is a paucity of evidence on its toxicologic profile and adverse effects. This is a single case report of a 42-year-old female with a past medical history of gestational diabetes, necrotizing pancreatitis, presented to the Emergency Department for 3 weeks of lethargy, weakness, difficulty walking, and vomiting...
December 3, 2023: American Journal of Emergency Medicine
https://read.qxmd.com/read/38074128/case-report-severe-respiratory-failure-caused-by-licorice
#37
Hiroaki Taniguchi, Takero Terayama, Nobuaki Kiriu, Hiroshi Kato, Soichiro Seno, Yasumasa Sekine, Yoshihiro Tanaka, Tetsuro Kiyozumi
Licorice, one of the most commonly used herbs, can cause hypokalemia, metabolic alkalosis, and apparent mineralocorticoid excess, also known as pseudoaldosteronism. Herein, we present a case of diaphragmatic dysfunction caused by licorice administration. An 80-year-old woman who had been taking dietary supplements and following a restricted diet for approximately 6 months was brought to the emergency department with impaired consciousness. Chronic respiratory acidosis was observed, and hypertension and hypokalemia became more prominent during hospitalization...
2023: Frontiers in Pharmacology
https://read.qxmd.com/read/38069462/long-term-indomethacin-treatment-in-a-chinese-child-with-gitelman-syndrome-case-report-and-literature-review-on-its-efficacy-and-tolerance
#38
JOURNAL ARTICLE
Xiaoyan Peng, Chaoying Chen, Juan Tu, Yuan Lin, Huarong Li, Haiyun Geng
BACKGROUND Gitelman syndrome (GS) is a rare inherited autosomal recessive salt-losing renal tubulopathy. Early-onset GS is difficult to differentiate from Bartter syndrome (BS). It has been reported in some cases that cyclooxygenase (COX) inhibitors, which pharmacologically reduce prostaglandin E2(PGE2) synthesis, are helpful for GS patients, especially in children, but the long-term therapeutic effect has not yet been revealed. CASE REPORT A 4-year-old boy was first brought to our hospital for the chief concern of short stature and growth retardation...
December 9, 2023: American Journal of Case Reports
https://read.qxmd.com/read/38062639/recurrent-transient-severe-hypocalcaemia-in-two-siblings-with-type-1-bartter-syndrome
#39
Juri Kanda, Shoichiro Kanda, Yoshiki Hayashi, Kandai Nozu, Shohei Ariji, Mai Shimoda, Mayumi Ono, Sachiko Kanda, Seiichiro Yokoyama, Kan Takahashi
Type 1 Bartter syndrome causes hypokalaemia and metabolic alkalosis owing to mutation in the SLC12A1 gene. Meanwhile, hypocalcaemia is rare in Bartter syndrome, except in type 5 Bartter syndrome. Herein, we describe two siblings with type 1 Bartter syndrome with recurrent transient severe hypocalcaemia. They each visited our hospital several times with chief complaints of numbness in the limbs, shortness of breath and tetany after stresses such as exercise or fever. Severe hypocalcaemia was also observed with a serum calcium level of approximately 6...
December 7, 2023: Nephrology
https://read.qxmd.com/read/38052189/a-pediatric-case-of-reninoma-presenting-with-paraneoplastic-siadh
#40
Sarpreet Singh Sekhon, Khalid Taha, Laura Kim, Robert Humphreys, Trisha J Patel, Alicia R Andrews, Anna F Lee, Fatema S Abdulhussein
INTRODUCTION: A reninoma (juxtaglomerular cell tumour) is a rare cause of secondary hypertension that can present with headaches alongside the triad of severe hypertension, hypokalemia, and metabolic alkalosis. CASE PRESENTATION: We describe a case of a 15-year-old previously healthy girl who presented with headaches and hypertensive urgency who had severe hypokalemia, moderate hyponatremia and elevated aldosterone and renin levels. Abdominal ultrasound and MRI with contrast revealed a unilateral mass localized to the right kidney...
December 5, 2023: Hormone Research in Pædiatrics
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