3,316 results match your criteria Metabolic Alkalosis


Nephrotic range proteinuria and metabolic alkalosis in Takayasu arteritis.

BMJ Case Rep 2019 Apr 15;12(4). Epub 2019 Apr 15.

Department of Internal Medicine, Okinawa Chubu Hospital, Uruma, Japan.

Nephrotic range proteinuria and metabolic alkalosis are unusual findings in large vessel vasculitis. In this case, renovascular hypertension with unilateral renal artery stenosis in Takayasu arteritis was complicated by nephrotic range proteinuria. Symptoms resolved after angioplasty, although non-nephrotic proteinuria persisted. Read More

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http://dx.doi.org/10.1136/bcr-2018-228637DOI Listing

A novel SLC12A1 mutation in Bedouin kindred with antenatal Bartter syndrome type I.

Ann Hum Genet 2019 Apr 12. Epub 2019 Apr 12.

The Morris Kahn Laboratory of Human Genetics, National Institute for Biotechnology in the Negev and Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel.

Four affected individuals of consanguineous kindred presented at infancy with an apparently autosomal recessive syndrome of polyuria and hypokalemic metabolic alkalosis, following maternal polyhydramnios and premature delivery, culminating in severe failure to thrive. Hypercalciuria, nephrocalcinosis, and hyperaldosteronism were further apparent as well as an unusual finding of intermittent hypernatremia. Additionally, all patients demonstrated variable micrognathia with upper respiratory airway abnormalities. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/ahg.12317
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http://dx.doi.org/10.1111/ahg.12317DOI Listing
April 2019
3 Reads

Clinical and Molecular Perspectives of Monogenic Hypertension.

Curr Hypertens Rev 2019 Apr 9. Epub 2019 Apr 9.

Department of Physiology, Wayne State University School of Medicine and the John D. Dingell VA Medical Center, Detroit, Michigan, MI. United States.

Advances in molecular research techniques have enabled a new frontier in discerning the mechanisms responsible for monogenic diseases. In this review, we discuss the current research on the molecular pathways governing blood pressure disorders with a Mendelian inheritance pattern, each presenting with a unique pathophysiology. Glucocorticoid remediable aldosteronism (GRA) and apparent mineralocorticoid excess (AME) are caused by mutations in regulatory enzymes that induce increased production of mineralocorticoids or inhibit degradation of glucocorticoids, respectively. Read More

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http://dx.doi.org/10.2174/1573402115666190409115330DOI Listing
April 2019
1 Read

High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders.

Orphanet J Rare Dis 2019 Apr 8;14(1):80. Epub 2019 Apr 8.

Center for Child and Adolescent Medicine, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Heidelberg, Germany.

Background: Neonatal manifestation of life-threatening hyperammonemic encephalopathy in urea cycle disorders (UCD) is often misdiagnosed as neonatal sepsis, resulting in significantly delayed start of specific treatment and poor outcome. The major aim of this study was to identify specific initial symptoms or signs to clinically distinguish hyperammonemic encephalopathy in neonates from neonatal sepsis in order to identify affected individuals with UCD and to start metabolic therapy without delay. Furthermore, we evaluated the impact of diagnostic delay, peak plasma ammonium (NH) concentration, mode of emergency treatment and transfer to a tertiary referral center on the outcome. Read More

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http://dx.doi.org/10.1186/s13023-019-1055-zDOI Listing
April 2019
2 Reads

A simplified quantitative acid-base approach for patients with acute respiratory diseases.

J Clin Monit Comput 2019 Apr 5. Epub 2019 Apr 5.

Department of Pulmonary Medicine, "Georgios Papanikolaou" General Hospital of Thessaloniki, G. Papanikolaou Ave, 57010, Exohi, Greece.

The Stewart-Figge acid-base model has been criticized for being mathematically complex. We aimed to develop simpler formalisms, which can be used at the bedside. The following simplifications were used: (1) [Ca] and [Mg] are replaced by their mid-reference concentrations (2) pH is set to 7. Read More

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http://dx.doi.org/10.1007/s10877-019-00302-2DOI Listing
April 2019
1 Read

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the Mutational Spectrum in the Middle East.

Front Pediatr 2019 21;7:89. Epub 2019 Mar 21.

Genome Research Division, Human Genetics Department, Radboud University Medical Center Nijmegen and Radboud Institute for Molecular Life Sciences, Nijmegen, Netherlands.

Nephropathic Cystinosis, the most common cause of renal Fanconi syndrome, is a lysosomal transport disorder with an autosomal recessive inheritance pattern. A large number of mutations in have been identified as causative to date. A 57 kb deletion encompassing parts of is most commonly identified in Caucasians but this allele has not been identified in individuals of Eastern Mediterranean, Middle Eastern, Persian, or Arab origin to date. Read More

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https://www.frontiersin.org/article/10.3389/fped.2019.00089/
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http://dx.doi.org/10.3389/fped.2019.00089DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6437787PMC
March 2019
5 Reads

Acquired Gitelman Syndrome Associated with Systemic Sclerosis.

Cureus 2019 Jan 20;11(1):e3923. Epub 2019 Jan 20.

Internal Medicine, Einstein Medical Center, Philadelphia, USA.

Gitelman syndrome is an inherited renal disorder characterized by hypomagnesemia, hypokalemia, hypocalciuria and metabolic alkalosis linked to the genes encoding the thiazide sensitive NaCl cotransporter (NCCT) located on the distal convoluted tubule of the kidney. It usually presents in late childhood or early adulthood with electrolyte abnormalities resembling chronic thiazide diuretic use. Acquired Gitelman syndrome is a very rare disorder mostly associated with Sjogren's syndrome. Read More

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http://dx.doi.org/10.7759/cureus.3923DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6430306PMC
January 2019
3 Reads

An Unusual Cause of Metabolic Alkalosis and Hypocalcemia in Childhood.

Clin Chem 2019 Apr;65(4):514-517

Department of Chemical Pathology, Pathology Queensland, Herston, Queensland, Australia.

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http://dx.doi.org/10.1373/clinchem.2018.287136DOI Listing
April 2019
1 Read

Gitelman Syndrome: A Rare Cause of Seizure Disorder and a Systematic Review.

Case Rep Med 2019 5;2019:4204907. Epub 2019 Feb 5.

Resident Physician, Abington Hospital-Jefferson Health, Abington, PA, USA.

Gitelman syndrome is one of the few inherited causes of metabolic alkalosis due to salt losing tubulopathy. It is caused by tubular defects at the level of distal convoluted tubules, mimicking a thiazide-like tumor. It usually presents in late childhood or in teenage as nonspecific weakness, fatigability, polyuria, and polydipsia but very rarely with seizures. Read More

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http://dx.doi.org/10.1155/2019/4204907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6379858PMC
February 2019
1 Read

Growth hormone deficiency in children with antenatal Bartter syndrome.

J Pediatr Endocrinol Metab 2019 Mar;32(3):225-231

Pediatric Nephrology Unit, Ha' Emek Medical Center, Afula, Israel.

Background Bartter syndrome is a group of rare autosomal-recessive renal disorders characterized by hypokalemic hypochloremic metabolic alkalosis associated with severe growth failure; the exact causes for growth retardation are unclear. GH deficiency (GHD) has been reported in a few cases of Bartter syndrome. The aim of our study was to determine the prevalence of GHD in children with antenatal Bartter syndrome and to assess their response to GH therapy. Read More

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http://dx.doi.org/10.1515/jpem-2018-0188DOI Listing
March 2019
1 Read

McKittrick-Wheelock Syndrome Presenting with Acute Kidney Injury and Metabolic Alkalosis: Case Report and Narrative Review.

Case Rep Gastrointest Med 2019 31;2019:3104187. Epub 2019 Jan 31.

Department of Internal Medicine, CHU de Québec, Québec City, QC, Canada.

A rare combination of severe volume depletion and electrolyte imbalance caused by a rectal villous adenoma is often referred to as the McKittrick-Wheelock syndrome. Patients usually seek medical care because of chronic hypersecretory diarrhea and display renal failure, metabolic acidosis, hyponatremia, and hypokalemia. We report the case of a 68-year-old woman who presented with this condition but showed unusual features such as severe hypokalemia and metabolic alkalosis, without diarrhea. Read More

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http://dx.doi.org/10.1155/2019/3104187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6374786PMC
January 2019
3 Reads

Characterization of the Human Skeletal Muscle Metabolome for Elucidating the Mechanisms of Bicarbonate Ingestion on Strenuous Interval Exercise.

Anal Chem 2019 Apr 18;91(7):4709-4718. Epub 2019 Mar 18.

Department of Chemistry and Chemical Biology , McMaster University , Hamilton , Ontario , Canada.

Bicarbonate has long been touted as a putative ergogenic aid that improves exercise performance and blood buffering capacity during strenuous exercise. However, the underlying mechanisms of action of bicarbonate intake on skeletal muscle metabolism have yet to be fully elucidated. Herein, we apply two orthogonal analytical platforms for nontargeted profiling of metabolites and targeted analysis of electrolytes from mass-limited muscle tissue biopsies (∼2 mg dried mass) when multisegment injection-capillary electrophoresis-mass spectrometry (MSI-CE-MS) and CE with indirect UV detection are used, respectively. Read More

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http://dx.doi.org/10.1021/acs.analchem.9b00149DOI Listing
April 2019
4 Reads

A unique case of ectopic Cushing's syndrome from a thymic neuroendocrine carcinoma.

Endocrinol Diabetes Metab Case Rep 2019 Feb 22;2019. Epub 2019 Feb 22.

Departments of Endocrinology, Diabetes & Metabolism, Cleveland Clinic, Cleveland, Ohio, USA.

Ectopic adrenocorticotropic hormone (ACTH) production leading to ectopic ACTH syndrome accounts for a small proportion of all Cushing's syndrome (CS) cases. Thymic neuroendocrine tumors are rare neoplasms that may secrete ACTH leading to rapid development of hypercortisolism causing electrolyte and metabolic abnormalities, uncontrolled hypertension and an increased risk for opportunistic infections. We present a unique case of a patient who presented with a mediastinal mass, revealed to be an ACTH-secreting thymic neuroendocrine tumor (NET) causing ectopic CS. Read More

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http://dx.doi.org/10.1530/EDM-19-0002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6391898PMC
February 2019
1 Read

Chronic Salicylate Toxicity Simulation.

MedEdPORTAL 2018 Aug 17;14:10741. Epub 2018 Aug 17.

Assistant Professor, Department of Emergency Medicine, Wake Forest Baptist Medical Center.

Introduction: Chronic salicylate toxicity is an uncommon, potentially life-threatening poisoning that requires high clinical suspicion in order to make the diagnosis. We created a simulation case that challenges learners to analyze case information, construct a differential diagnosis of an elevated anion gap metabolic acidosis with respiratory alkalosis, and initiate treatment for this toxicity.

Methods: The simulation case was designed for emergency medicine residents and pediatric emergency medicine fellows. Read More

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http://dx.doi.org/10.15766/mep_2374-8265.10741DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6342349PMC
August 2018
1 Read

Mimicry and well known genetic friends: molecular diagnosis in an Iranian cohort of suspected Bartter syndrome and proposition of an algorithm for clinical differential diagnosis.

Orphanet J Rare Dis 2019 02 13;14(1):41. Epub 2019 Feb 13.

Genome Research Division, Human Genetics department, Radboud University Medical Center, Geert Grooteplein Zuid 10, 6525KL, Nijmegen, The Netherlands.

Background: Bartter Syndrome is a rare, genetically heterogeneous, mainly autosomal recessively inherited condition characterized by hypochloremic hypokalemic metabolic alkalosis. Mutations in several genes encoding for ion channels localizing to the renal tubules including SLC12A1, KCNJ1, BSND, CLCNKA, CLCNKB, MAGED2 and CASR have been identified as underlying molecular cause. No genetically defined cases have been described in the Iranian population to date. Read More

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http://dx.doi.org/10.1186/s13023-018-0981-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375149PMC
February 2019
2 Reads

Osteomalacia in a Case of Adult-Onset Bartter Syndrome.

Eur J Case Rep Intern Med 2018 21;5(3):000764. Epub 2018 Mar 21.

Internal Medicine, Liaquat College of Medicine and Dentistry and Darul Sehat Hospital, Karachi, Pakistan.

Bartter syndrome is a rare heterogeneous disease characterised by a deficiency in sodium and chloride absorption. Gain-of-function mutations in the CASR gene have been described in some patients with Bartter syndrome associated with hypocalcaemia and hypercalciuria. We describe a case of adult-onset Bartter syndrome with hypocalcaemia severe enough to cause osteomalacia. Read More

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http://dx.doi.org/10.12890/2018_000764DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346954PMC
March 2018
1 Read

The effect of inspiratory muscle fatigue on acid-base status and performance during race-paced middle-distance swimming.

J Sports Sci 2019 Feb 6:1-7. Epub 2019 Feb 6.

b Faculty of Sport , University of Ljubljana , Ljubljana , Slovenia.

The aim of this study was to investigate the effect of pre-induced inspiratory muscle fatigue (IMF) on race-paced swimming and acid-base status. Twenty-one collegiate swimmers performed two discontinuous 400-m race-paced swims on separate days, with (IMF trial) and without (control trial) pre-induced IMF. Swimming characteristics, inspiratory and expiratory mouth pressures, and blood parameters were recorded. Read More

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http://dx.doi.org/10.1080/02640414.2019.1574250DOI Listing
February 2019
2 Reads

Safety and efficacy of regional citrate anticoagulation for continuous renal replacement therapy in liver failure patients: a systematic review and meta-analysis.

Crit Care 2019 Jan 24;23(1):22. Epub 2019 Jan 24.

The Nephrology Department of Xijing Hospital, the Fourth Military Medical University, No. 127 Changle West, Road, Xi'an, 710032, Shaanxi, China.

Background: Regional citrate anticoagulation (RCA) is a widely used strategy for continuous renal replacement therapy (CRRT). Most of the current guidelines recommend liver failure as one of the contraindications for citrate anticoagulation. However, some studies suggested that the use of citrate for CRRT in liver failure patients did not increase the risk of citrate-related complications. Read More

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http://dx.doi.org/10.1186/s13054-019-2317-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6345001PMC
January 2019
3 Reads

Extreme Metabolic Alkalosis and Acute Kidney Injury in a 38-Year-Old Male Patient.

Indian J Crit Care Med 2018 Dec;22(12):883-885

Department of Internal Medicine, Stuttgart Hospital, Stuttgart, Germany.

Repeated vomiting may lead to profound loss of fluid and electrolytes. We describe a case with life-threatening acid-base disturbances due to vomiting. A 38-year-old man presented to an emergency department with weakness and decreased urine output after having vomited up to 20 times per day over a period of 7 days. Read More

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http://dx.doi.org/10.4103/ijccm.IJCCM_180_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6311974PMC
December 2018
4 Reads

Hypokalaemic metabolic alkalosis, hypertension and diabetes: what is the link.

BMJ Case Rep 2019 Jan 18;12(1). Epub 2019 Jan 18.

Department of Internal Medicine, Kantonsspital Graubunden, Chur, Switzerland.

Two years after diagnosis of a metastatic neuroendocrine gastrin-secreting tumour and after several cycles of chemotherapy and peptide receptor radionuclide therapy, a 56-year-old woman presented with hypokalaemic metabolic alkalosis, hypertension, leg oedema and new-onset diabetes mellitus. Further investigations revealed renal potassium loss confirmed by a transtubular potassium gradient of 16, fully suppressed serum aldosterone, but instead highly elevated blood levels of morning cortisol and adrenocorticotropic hormone as well as increased urinary excretion of glucocorticoid and mineralocorticoid metabolites. Ruling out other causes, paraneoplastic hypercortisolism was diagnosed. Read More

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http://dx.doi.org/10.1136/bcr-2018-227068DOI Listing
January 2019
3 Reads

Insulin infusion responses in diabetic ketoacidosis alone and with a mixed hypochloremic alkalosis.

Diabetes Metab Syndr 2019 Jan - Feb;13(1):216-221. Epub 2018 Aug 22.

Department of Internal Medicine, Division of Endocrinology, Saint Louis University School of Medicine, United States. Electronic address:

Aims: Although diabetic ketoacidosis (DKA) commonly presents as a pure diabetic ketoacidosis (PDKA), up to 30% of cases may be associated with a mixed hypochloremic metabolic alkalosis (HMA). It is unknown whether there is a difference in treatment outcomes between these two entities. We evaluated an insulin infusion protocol (IIP), previously validated for hyperglycemia management in ICU's, for the management of PDKA and HMA. Read More

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http://dx.doi.org/10.1016/j.dsx.2018.08.015DOI Listing
August 2018
2 Reads

The exhausting work of acclimating to chronically elevated CO.

J Physiol 2019 Mar 30;597(6):1421-1423. Epub 2019 Jan 30.

Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, Alberta, Canada.

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http://dx.doi.org/10.1113/JP277491DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6418778PMC
March 2019
5 Reads

Genetic investigation confirmed the clinical phenotype of congenital chloride diarrhea in a Hungarian patient: a case report.

BMC Pediatr 2019 Jan 11;19(1):16. Epub 2019 Jan 11.

Department of Medical Genetics, University of Szeged, Szeged, Hungary.

Background: Congenital chloride diarrhea (CCD, OMIM 214700) is a rare autosomal recessively inherited condition characterized by watery diarrhea, hypochloremia and metabolic alkalosis. Mutations of the solute carrier family 26, member 3 (SLC26A3, OMIM 126650) gene are responsible for the disease. The gene encodes a transmembrane protein, which is essential for intestinal chloride absorption. Read More

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https://bmcpediatr.biomedcentral.com/articles/10.1186/s12887
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http://dx.doi.org/10.1186/s12887-019-1390-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6330408PMC
January 2019
11 Reads

Kir4.1/Kir5.1 in the DCT plays a role in the regulation of renal K excretion.

Am J Physiol Renal Physiol 2019 Mar 9;316(3):F582-F586. Epub 2019 Jan 9.

Department of Pharmacology, New York Medical College, Valhalla, New York.

The aim of this mini review is to provide an overview regarding the role of inwardly rectifying potassium channel 4.1 (Kir4.1)/Kir5. Read More

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http://dx.doi.org/10.1152/ajprenal.00412.2018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6459306PMC
March 2019
3 Reads

Effect of Bicarbonate-Buffered Dialysate on Ventricular Arrhythmias in Hemodialysis Patients.

Am J Nephrol 2019 2;49(1):74-80. Epub 2019 Jan 2.

Department of Medicine, Jacobs School of Medicine and Biomedical Sciences, University at Buffalo, The State University of New York, Buffalo, New York, USA,

Background: The etiology of sudden cardiac death in patients with end-stage renal disease (ESRD) on hemodialysis (HD) is largely unknown, though there is evidence to suggest that metabolic alkalosis induced by HD with a high-bicarbonate dialysate/prescription may play a role.

Methods: We investigated the effects of metabolic alkalosis induced by HD with an acetate-containing bicarbonate-buffered dialysate on frequency of ventricular arrhythmia in 47 patients with ESRD on chronic HD using 48-h Holter monitoring in 3 phases: intra-HD, post-HD day 1, and post-HD day 2. Serum levels of bicarbonate, calcium, and potassium along with hemodynamics were measured pre-HD, post-HD, 20-h post-HD, and 44-h post-HD. Read More

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https://www.karger.com/Article/FullText/495846
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http://dx.doi.org/10.1159/000495846DOI Listing
January 2019
13 Reads

Acid-Base Status Disturbances in Patients on Chronic Hemodialysis at High Altitudes.

Int J Nephrol 2018 18;2018:2872381. Epub 2018 Nov 18.

Renal Therapy Service (RTS), Bogotá 110221, Colombia.

Background: Acid-base disorders have been previously described in patients with chronic hemodialysis, with metabolic acidosis being the most important of them; however, little is known about the potential changes in acid-base status of patients on dialysis living at high altitudes.

Methods: Cross-sectional study including 93 patients receiving chronic hemodialysis on alternate days and living in Bogotá, Colombia, at an elevation of 2,640 meters (8,661 feet) over sea level (m.o. Read More

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https://www.hindawi.com/journals/ijn/2018/2872381/
Publisher Site
http://dx.doi.org/10.1155/2018/2872381DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6276435PMC
November 2018
24 Reads

Peripheral primitive neuroectodermal tumor associated with paraneoplastic Cushing's syndrome: The rare case.

Ann Med Surg (Lond) 2019 Jan 29;37:21-24. Epub 2018 Nov 29.

Iran University of Medical Science, Tehran, Iran.

Introduction: Primitive neuroectodermal tumors (PNET) form a group of tumors defined by their appearance that are thought to develop from primitive (undifferentiated) nerve cells in the brain. They are rare tumors and their incidence is not well defined.

Case Presentation: An 18-month-old male presenting with typical Cushingoid appearance (moon face, central obesity, hirsutism and growth arrest) was admitted for evaluation of endocrine problems. Read More

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http://dx.doi.org/10.1016/j.amsu.2018.11.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6287080PMC
January 2019
2 Reads

Sodium bicarbonate ingestion improves repeated high-intensity cycling performance in the heat.

Authors:
Toby Mündel

Temperature (Austin) 2018 13;5(4):343-347. Epub 2018 Mar 13.

School of Sport, Exercise and Nutrition, Massey University, Private Bag 11-222, Palmerston North, New Zealand.

The purpose of this study was to investigate the effect of sodium bicarbonate ingestion on performance and recovery of the Wingate test during exercise in the heat. At 30 °C (∼50% relative humidity), ten male team sport athletes (mean values ± SD; age = 22 ± 4 y; body mass = 76 ± 9 kg) completed two 30s Wingate tests using a resistive load of 7.5% of body mass separated by 5 min of active recovery. Read More

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http://dx.doi.org/10.1080/23328940.2018.1436393DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6298489PMC
March 2018
2 Reads

[The function and regulation of basolateral Kir4.1 and Kir4.1/Kir5.1 in renal tubules].

Sheng Li Xue Bao 2018 Dec;70(6):600-606

Department of Pharmacology, Harbin Medical University, Harbin 150081, China.

Basolateral inwardly-rectifying K channels (Kir) play an important role in the control of resting membrane potential and transepithelial voltage, thereby modulating water and electrolyte transport in the distal part of nephron. Kir4.1 and Kir4. Read More

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December 2018
3 Reads

Long-term ketone body therapy of severe multiple acyl-CoA dehydrogenase deficiency: A case report.

Nutrition 2019 Apr 22;60:122-128. Epub 2018 Oct 22.

University Hospital Muenster, Department of Pediatrics, Muenster, Germany.

Objectives: Multiple acyl-CoA dehydrogenase deficiency (MADD) is the most severe disorder of mitochondrial fatty acid β-oxidation. Treatment of this disorder is difficult because the functional loss of the electron transfer flavoprotein makes energy supply from fatty acids impossible. Acetyl-CoA, provided by exogenous ketone bodies such as NaßHB, is the only treatment option in severe cases. Read More

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http://dx.doi.org/10.1016/j.nut.2018.10.014DOI Listing
April 2019
5 Reads

High doses of sodium bicarbonate increase lactate levels and delay exhaustion in a cycling performance test.

Nutrition 2019 Apr 13;60:94-99. Epub 2018 Oct 13.

Research Group on Metabolism, Nutrition and Strength Training, Department of Physical Education, Federal University of Parana, Curitiba, Brazil; Appalachian State University, Department of Health and Exercise Science, Appalachian State University, Boone, North Caroline, USA.

Objectives: It is well established that ingestion of sodium bicarbonate (NaHCO) causes metabolic alkalosis. However, there is no consensus in terms of optimal NaHCO doses leading to enhanced performance. This study aimed to determine the effects of different NaHCO doses on performance and lactate clearance in non-professional cyclists. Read More

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http://dx.doi.org/10.1016/j.nut.2018.09.018DOI Listing
April 2019
11 Reads

Bartter syndrome: causes, diagnosis, and treatment.

Int J Nephrol Renovasc Dis 2018 9;11:291-301. Epub 2018 Nov 9.

Nephrology Division, Universidade Federal de São Paulo (UNIFESP), Escola Paulista de Medicina, São Paulo, Brazil,

Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype-genotype relationship due to the interaction with other cotransporters and different degrees of compensation through alternative pathways is currently reported. Read More

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https://www.dovepress.com/bartter-syndrome-causes-diagnosis-
Publisher Site
http://dx.doi.org/10.2147/IJNRD.S155397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6233707PMC
November 2018
23 Reads

Beyond the Dual Paraneoplastic Syndromes of Small-Cell Lung Cancer with ADH and ACTH Secretion: A Case Report with Literature Review and Future Implications.

Case Rep Oncol Med 2018 18;2018:4038397. Epub 2018 Oct 18.

Department of Medicine, Baystate Medical Center, University of Massachusetts Medical School, Springfield, MA, USA.

We present a case of small-cell lung cancer (SCLC) with syndrome of inappropriate antidiuretic hormone secretion (SIADH) in which serum sodium gradually normalized with the onset of hypertension, refractory hypokalemia, and chloride-resistant metabolic alkalosis due to ectopic adrenocorticotrophic hormone (ACTH) secretion (EAS). In this case report, we discuss the diagnostic challenges of dual paraneoplastic syndromes with SIADH and EAS, management of SCLC with paraneoplastic endocrinopathies, and their prognostic impact on SCLC. In addition, we discuss neuroendocrine differentiation and ectopic hormone production in relation to intratumoral heterogeneity in SCLC and propose tumor microenvironment and hormonal and metabolic dependence as important determinants of tumor growth and survival. Read More

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http://dx.doi.org/10.1155/2018/4038397DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6220734PMC
October 2018
2 Reads

Renal aspects of metabolic acid-base disorders in neonates.

Pediatr Nephrol 2018 Nov 19. Epub 2018 Nov 19.

Lausanne University Medical School, CHUV-1011, Lausanne, Switzerland.

Acid-base homeostasis is one of the most tightly regulated systems in the body. Maintaining the acid-base balance is particularly challenging for preterm infants and growing neonates. The kidney, which represents the crucial ultimate line of defense against disturbances of acid-base balance, undergoes a complex maturation process during the transition from a fetal to an extra-uterine environment. Read More

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http://link.springer.com/10.1007/s00467-018-4142-9
Publisher Site
http://dx.doi.org/10.1007/s00467-018-4142-9DOI Listing
November 2018
22 Reads

Bartter Syndrome and Gitelman Syndrome.

Pediatr Clin North Am 2019 02;66(1):121-134

Department of Pediatrics, Inova Children's Hospital, 3300 Gallows Road, Falls Church, VA 22042, USA; Division of Nephrology and Hypertension, Pediatric Specialists of Virginia, 3023 Hamaker Court, Suite 600, Fairfax, VA 22031, USA; Virginia Commonwealth School of Medicine, Richmond, VA, USA. Electronic address:

Bartter and Gitelman syndromes are conditions characterized by renal salt-wasting. Clinical presentations range from severe antenatal disease to asymptomatic with incidental diagnosis. Hypokalemic hypochloremic metabolic alkalosis is the common feature. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955183013
Publisher Site
http://dx.doi.org/10.1016/j.pcl.2018.08.010DOI Listing
February 2019
17 Reads

Acute milk-alkali syndrome

Endocrinol Diabetes Metab Case Rep 2018 Oct;2018(1)

Section of Endocrinology, Diabetes and Metabolism, Department of Medicine, Reading Hospital, Reading, Pennsylvania, USA.

Summary: A 74-year-old woman presented with progressive lethargy, confusion, poor appetite and abdominal pain. She was found to have non-PTH-mediated severe hypercalcemia with renal failure and metabolic alkalosis. Extensive workup for hypercalcemia to rule out alternate etiology was unrevealing. Read More

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https://edm.bioscientifica.com/view/journals/edm/2018/1/EDM1
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http://dx.doi.org/10.1530/EDM-18-0075DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215939PMC
October 2018
15 Reads

Two neonates with Bartter syndrome.

J Pak Med Assoc 2018 Nov;68(11):1721-1723

Children hospital, Pakistan Institute of Medical Sciences, Islamabad.

Bartter syndrome is an autosomal recessive disorder caused by gene mutations that involve hypokalaemia, hypochloraemia and metabolic alkalosis along with raised serum renin, hyperaldosteronism and normal blood pressure. We report two cases of neonatal Bartter syndrome. Case 1 was a product of non-consanguineous marriage and mother had unexplained polyhydramnios in pregnancy while case 2 was a product of consanguineous marriage. Read More

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November 2018
18 Reads

Barttin Regulates the Subcellular Localization and Posttranslational Modification of Human Cl/H Antiporter ClC-5.

Front Physiol 2018 23;9:1490. Epub 2018 Oct 23.

Institute for Neurophysiology, Hannover Medical School, Hanover, Germany.

Dent disease 1 (DD1) is a renal salt-wasting tubulopathy associated with mutations in the Cl/H antiporter ClC-5. The disease typically manifests with proteinuria, hypercalciuria, nephrocalcinosis, and nephrolithiasis but is characterized by large phenotypic variability of no clear origin. Several DD1 cases have been reported lately with additional atypical hypokalemic metabolic alkalosis and hyperaldosteronism, symptoms usually associated with another renal disease termed Bartter syndrome (BS). Read More

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https://www.frontiersin.org/article/10.3389/fphys.2018.01490
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http://dx.doi.org/10.3389/fphys.2018.01490DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6206076PMC
October 2018
5 Reads

Reninoma: a rare cause of curable hypertension.

Korean J Pediatr 2019 Apr 29;62(4):144-147. Epub 2018 Oct 29.

Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.

The most common type of refractory hypertension found in children is secondary hypertension, which is a potentially curable disease. Reninoma, a renin-secreting juxtaglomerular cell tumor, is a rare cause of severe hypertension that is usually diagnosed in adolescents and young adults. Surgical resection of the tumor completely cures the hypertension of patients with reninoma. Read More

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http://kjp.or.kr/journal/view.php?doi=10.3345/kjp.2018.06926
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http://dx.doi.org/10.3345/kjp.2018.06926DOI Listing
April 2019
17 Reads

Carbonic anhydrase inhibitors in patients with respiratory failure and metabolic alkalosis: a systematic review and meta-analysis of randomized controlled trials.

Crit Care 2018 Oct 29;22(1):275. Epub 2018 Oct 29.

Division of Nephrology and Hypertension, Makassed General Hospital, Beirut, Lebanon.

Background: Metabolic alkalosis is common in patients with respiratory failure and may delay weaning in mechanically ventilated patients. Carbonic anhydrase inhibitors block renal bicarbonate reabsorption, and thus reverse metabolic alkalosis. The objective of this systematic review is to assess the benefits and harms of carbonic anhydrase inhibitor therapy in patients with respiratory failure and metabolic alkalosis. Read More

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https://ccforum.biomedcentral.com/articles/10.1186/s13054-01
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http://dx.doi.org/10.1186/s13054-018-2207-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6205780PMC
October 2018
24 Reads

The patient with metabolic alkalosis.

Acta Clin Belg 2018 Oct 27:1-7. Epub 2018 Oct 27.

a Division of Nephrology , Cliniques universitaires Saint-Luc , Brussels , Belgium.

Metabolic alkalosis defined by the increase of both plasma HCO3- level (>26 mmol/L) and blood arterial pH (>7.43) is quite frequent and usually accompanied by hypokalemia. Its pathogenesis requires both the generation of alkalosis and its maintenance. Read More

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https://www.tandfonline.com/doi/full/10.1080/17843286.2018.1
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http://dx.doi.org/10.1080/17843286.2018.1539373DOI Listing
October 2018
20 Reads

Sensitivity to near-future CO conditions in marine crabs depends on their compensatory capacities for salinity change.

Sci Rep 2018 Oct 23;8(1):15639. Epub 2018 Oct 23.

Ocean and Earth Science, University of Southampton, Waterfront Campus, National Oceanography Centre Southampton, European Way, Southampton, SO14 3ZH, UK.

Marine crabs inhabit shallow coastal/estuarine habitats particularly sensitive to climate change, and yet we know very little about the diversity of their responses to environmental change. We report the effects of a rarely studied, but increasingly prevalent, combination of environmental factors, that of near-future pCO (~1000 µatm) and a physiologically relevant 20% reduction in salinity. We focused on two crab species with differing abilities to cope with natural salinity change, and revealed via physiological and molecular studies that salinity had an overriding effect on ion exchange in the osmoregulating shore crab, Carcinus maenas. Read More

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http://dx.doi.org/10.1038/s41598-018-34089-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6199311PMC
October 2018
3 Reads

Case Report: Severe back pain, epigastric distress and refractory nausea; an unusual presentation of mediastinal bronchogenic cyst.

F1000Res 2018 28;7:960. Epub 2018 Jun 28.

Internal Medicine Residency, Florida Hospital Orlando, Orlando, FL, 32803, USA.

Bronchogenic cysts are congenital malformations from abnormal budding of embryonic foregut and tracheobronchial tree. We present a case of bronchogenic cyst with severe back pain, epigastric distress and refractory nausea and vomiting.   A 44-year-old Hispanic female presented with a 3-week history of recurrent sharp interscapular pain radiating to epigastrium with refractory nausea and vomiting. Read More

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https://f1000research.com/articles/7-960/v1
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http://dx.doi.org/10.12688/f1000research.15128.1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6171728PMC
June 2018
22 Reads

Persistent QT Prolongation in a Child with Gitelman Syndrome and SCN5A H558R Polymorphism.

Int Heart J 2018 Nov 10;59(6):1466-1468. Epub 2018 Oct 10.

Department of Pediatric Cardiology, Ibaraki Children's Hospital.

Gitelman syndrome (GS) is an inherited renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypomagnesemia, and low urinary calcium excretion. While it is considered a benign disease, severe ventricular arrhythmia and sudden cardiac death related to the prolongation of the QT interval have been reported in rare cases. Herein we report a 13-year-old girl with GS who presented with persistent prolongation of the QT interval, even after being treated for hypokalemia and hypomagnesemia. Read More

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http://dx.doi.org/10.1536/ihj.17-686DOI Listing
November 2018
3 Reads

Hypertensive Crisis with Neurological Impairment Mimicking a Guillain-Barrè Syndrome: Searching for a Link.

High Blood Press Cardiovasc Prev 2018 Dec 8;25(4):421-424. Epub 2018 Oct 8.

Studium Patavium (Formerly Department of Medicine), University of Padova, Padua, Italy.

Guillain-Barré syndrome (GBS) may be complicated by severe hypertension (HT) and in turns severe HT can occur with neurological damage mimicking a GBS, so that underlying causes should be investigated. We describe a case of a 62-year-old woman presented to the emergency department for hypertensive crisis with symmetric flaccid paralysis, hypotonia and hyporeflexia of both upper and lower limbs. Brain computed tomography, magnetic resonance imaging and lumbar puncture were normal. Read More

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http://dx.doi.org/10.1007/s40292-018-0283-yDOI Listing
December 2018
4 Reads

Diabetic ketoalkalosis: misnomer or undiagnosed variant of diabetic ketoacidosis.

BMJ Case Rep 2018 Oct 2;2018. Epub 2018 Oct 2.

Department of Internal Medicine, St Joseph's University Medical Center, Paterson, New Jersey, USA.

Usually, hyperglycaemia crisis presents with acidotic pH, but ketoalkalosis is a rare and unheard entity presenting in diabetic ketoacidosis. We describe three unique cases where the patients present with hyperglycaemia >250 mg/dL, normal or alkalotic pH, and bicarbonate >20 meq/L, which does not meet criteria for diabetic ketoacidosis. However, once these patients were supplemented with intravenous fluids, diagnosis of diabetic ketoacidosis was evident in laboratory analysis. Read More

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http://dx.doi.org/10.1136/bcr-2018-226092DOI Listing
October 2018
2 Reads

Spectrum of Hypokalemic Paralysis from a Tertiary Care Center in India.

Indian J Nephrol 2018 Sep-Oct;28(5):365-369

Institute of Nephrology, Madras Medical College, The Tamilnadu Dr MGR Medical University, Chennai, Tamil Nadu, India.

Hypokalemic paralysis is an important and reversible cause of acute flaccid paralysis. The treating physician faces unique diagnostic and therapeutic challenges. We did a prospective study and included all patients with acute flaccid weakness and documented serum potassium of <3. Read More

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http://dx.doi.org/10.4103/ijn.IJN_225_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6146732PMC
October 2018
4 Reads

Renal reactivity: acid-base compensation during incremental ascent to high altitude.

J Physiol 2018 Dec 28;596(24):6191-6203. Epub 2018 Oct 28.

Department of Biology, Faculty of Science and Technology, Mount Royal University, Calgary, Alberta, Canada.

Key Points: Ascent to high altitude imposes an acid-base challenge in which renal compensation is integral for maintaining pH homeostasis, facilitating acclimatization and helping prevent mountain sicknesses. The time-course and extent of plasticity of this important renal response during incremental ascent to altitude is unclear. We created a novel index that accurately quantifies renal acid-base compensation, which may have laboratory, fieldwork and clinical applications. Read More

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http://dx.doi.org/10.1113/JP276973DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292812PMC
December 2018
27 Reads

Rare Cause of Infantile Hypercalcemia: A Novel Mutation in the SLC34A1 Gene.

Horm Res Paediatr 2018 Sep 18:1-7. Epub 2018 Sep 18.

Background: Under physiological conditions, proximal tubular phosphate reabsorption via NaPi-IIa (and NaPi-IIc) ensures the maintenance of phosphate homeostasis. Impairment of NaPi-IIa, encoded by SLC34A1, is associated with various overlapping clinical syndromes, including hypophosphatemic nephrolithiasis with osteoporosis, renal Fanconi's syndrome with chronic kidney disease, and idiopathic infantile hypercalcemia and nephrocalcinosis.

Methods: A patient was referred to our hospital due to hyponatremia, hyperkalemia, and hypophosphatemia, as well as persistent hypercalcemia after fluid therapy and sodium replacement. Read More

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http://dx.doi.org/10.1159/000492899DOI Listing
September 2018
7 Reads