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Nefrologia : Publicacion Oficial de La... 2016Hyperchloremia is a common electrolyte disorder that is associated with a diverse group of clinical conditions. The kidney plays an important role in the regulation of... (Review)
Review
Hyperchloremia is a common electrolyte disorder that is associated with a diverse group of clinical conditions. The kidney plays an important role in the regulation of chloride concentration through a variety of transporters that are present along the nephron. Nevertheless, hyperchloremia can occur when water losses exceed sodium and chloride losses, when the capacity to handle excessive chloride is overwhelmed, or when the serum bicarbonate is low with a concomitant rise in chloride as occurs with a normal anion gap metabolic acidosis or respiratory alkalosis. The varied nature of the underlying causes of the hyperchloremia will, to a large extent, determine how to treat this electrolyte disturbance.
Topics: Acid-Base Equilibrium; Acidosis; Alkalosis, Respiratory; Bicarbonates; Cell Membrane Permeability; Chlorides; Formates; Humans; Ion Transport; Kidney Tubules, Proximal; Membrane Transport Proteins; Natriuresis; Nephrons; Oxalates; Water-Electrolyte Imbalance
PubMed: 27267918
DOI: 10.1016/j.nefro.2016.04.001 -
Revista Espanola de Anestesiologia Y... Jan 2020Abnormalities in the acid-base balance are common clinical problems and can have deleterious effects on cellular function and be a clue to various disorders. Therefore,... (Review)
Review
Abnormalities in the acid-base balance are common clinical problems and can have deleterious effects on cellular function and be a clue to various disorders. Therefore, it is important for the clinician to make a precise diagnosis of the acid-base disorder(s) present for a proper treatment. Three approaches have been proposed to evaluate acid-base disorders: a bicarbonate-centric approach; the Stewart approach, and the base excess approach. Although the latter two have many adherents, we will only discuss the bicarbonate-centric approach. This approach is simpler to utilize at the bedside, has a physiological evaluation of the acid-base disorder, presents an easily understandable approach to assess severity, and provides a more solid foundation for the development of effective therapies. Therefore, the following discussion will be limited to an examination of this approach. In this case-centric review, important new concepts will be introduced first; their benefits and limitations discussed; and then their utilization to analyze actual cases will be shown. A systematic approach algorithm that incorporates these new concepts has been generated and will be highlighted.
Topics: Acid-Base Equilibrium; Acid-Base Imbalance; Acidosis; Algorithms; Alkalosis; Bicarbonates; Blood Gas Analysis; Humans; Hydrogen-Ion Concentration; Reference Values
PubMed: 31826801
DOI: 10.1016/j.redar.2019.04.001 -
Kidney International Feb 2021Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic...
Diagnosis and management of Bartter syndrome: executive summary of the consensus and recommendations from the European Rare Kidney Disease Reference Network Working Group for Tubular Disorders.
Bartter syndrome is a rare inherited salt-losing renal tubular disorder characterized by secondary hyperaldosteronism with hypokalemic and hypochloremic metabolic alkalosis and low to normal blood pressure. The primary pathogenic mechanism is defective salt reabsorption predominantly in the thick ascending limb of the loop of Henle. There is significant variability in the clinical expression of the disease, which is genetically heterogenous with 5 different genes described to date. Despite considerable phenotypic overlap, correlations of specific clinical characteristics with the underlying molecular defects have been demonstrated, generating gene-specific phenotypes. As with many other rare disease conditions, there is a paucity of clinical studies that could guide diagnosis and therapeutic interventions. In this expert consensus document, the authors have summarized the currently available knowledge and propose clinical indicators to assess and improve quality of care.
Topics: Alkalosis; Bartter Syndrome; Consensus; Humans; Hypokalemia; Rare Diseases
PubMed: 33509356
DOI: 10.1016/j.kint.2020.10.035 -
Digestive Diseases and Sciences Aug 2017Electrolyte and acid-base disturbances are frequent in patients with end-stage liver disease; the underlying physiopathological mechanisms are often complex and... (Review)
Review
Electrolyte and acid-base disturbances are frequent in patients with end-stage liver disease; the underlying physiopathological mechanisms are often complex and represent a diagnostic and therapeutic challenge to the physician. Usually, these disorders do not develop in compensated cirrhotic patients, but with the onset of the classic complications of cirrhosis such as ascites, renal failure, spontaneous bacterial peritonitis and variceal bleeding, multiple electrolyte, and acid-base disturbances emerge. Hyponatremia parallels ascites formation and is a well-known trigger of hepatic encephalopathy; its management in this particular population poses a risky challenge due to the high susceptibility of cirrhotic patients to osmotic demyelination. Hypokalemia is common in the setting of cirrhosis: multiple potassium wasting mechanisms both inherent to the disease and resulting from its management make these patients particularly susceptible to potassium depletion even in the setting of normokalemia. Acid-base disturbances range from classical respiratory alkalosis to high anion gap metabolic acidosis, almost comprising the full acid-base spectrum. Because most electrolyte and acid-base disturbances are managed in terms of their underlying trigger factors, a systematic physiopathological approach to their diagnosis and treatment is required.
Topics: Acid-Base Imbalance; Alkalosis; Disease Progression; End Stage Liver Disease; Humans; Hypokalemia; Hyponatremia; Water-Electrolyte Imbalance
PubMed: 28501971
DOI: 10.1007/s10620-017-4597-8 -
The Veterinary Clinics of North... Jan 2023In clinical medicine, evaluation of acid-base balance can be a valuable diagnostic and monitoring tool. Blood gas machines need very small volumes of blood and provide... (Review)
Review
In clinical medicine, evaluation of acid-base balance can be a valuable diagnostic and monitoring tool. Blood gas machines need very small volumes of blood and provide immediate results, making them ideal for use in the emergency room and intensive care setting. This review outlines the stepwise approach to assessment of acid-base balance in dogs, common causes of acid-base abnormalities, and the general approach to treatment.
Topics: Dogs; Animals; Acid-Base Imbalance; Alkalosis; Acid-Base Equilibrium; Blood Gas Analysis; Hydrogen-Ion Concentration; Dog Diseases
PubMed: 36270834
DOI: 10.1016/j.cvsm.2022.07.014 -
Endocrinology, Diabetes & Metabolism... Oct 2018A 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...
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. Upon further questioning, she was taking excess calcium carbonate (Tums) for her worsening heartburn. She was diagnosed with milk-alkali syndrome (MAS). Her hypercalcemia and alkalosis recovered completely with aggressive hydration along with improvement in her renal function. High index of suspicion should be maintained and history of drug and supplements, especially calcium ingestion, should be routinely asked in patients presenting with hypercalcemia to timely diagnose MAS and prevent unnecessary tests and treatments.
LEARNING POINTS
Suspect milk-alkali syndrome in patients with hypercalcemia, metabolic alkalosis and renal failure, especially in context of ingestion of excess calcium-containing supplements. Careful history of over-the-counter medications, supplements and diet is crucial to diagnose milk-alkali syndrome. Milk-alkali syndrome may cause severe hypercalcemia in up to 25–30% of cases.
PubMed: 30422607
DOI: 10.1530/EDM-18-0075 -
The New England Journal of Medicine Apr 2018
Review
Topics: Acid-Base Imbalance; Aged, 80 and over; Alkalosis; Bicarbonates; Blood Gas Analysis; Carbon Dioxide; Female; History, 20th Century; Humans; Hydrogen-Ion Concentration; Male; Middle Aged; Poliomyelitis, Bulbar; Respiration, Artificial
PubMed: 29641969
DOI: 10.1056/NEJMra1711860 -
Current Opinion in Nephrology and... Sep 2022Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are... (Review)
Review
PURPOSE OF REVIEW
Gitelman syndrome is a recessive salt-wasting disorder characterized by hypomagnesemia, hypokalemia, metabolic alkalosis and hypocalciuria. The majority of patients are explained by mutations and deletions in the SLC12A3 gene, encoding the Na+-Cl--co-transporter (NCC). Recently, additional genetic causes of Gitelman-like syndromes have been identified that should be considered in genetic screening. This review aims to provide a comprehensive overview of the clinical, genetic and mechanistic aspects of Gitelman(-like) syndromes.
RECENT FINDINGS
Disturbed Na+ reabsorption in the distal convoluted tubule (DCT) is associated with hypomagnesemia and hypokalemic alkalosis. In Gitelman syndrome, loss-of-function mutations in SLC12A3 cause impaired NCC-mediated Na+ reabsorption. In addition, patients with mutations in CLCKNB, KCNJ10, FXYD2 or HNF1B may present with a similar phenotype, as these mutations indirectly reduce NCC activity. Furthermore, genetic investigations of patients with Na+-wasting tubulopathy have resulted in the identification of pathogenic variants in MT-TI, MT-TF, KCNJ16 and ATP1A1. These novel findings highlight the importance of cell metabolism and basolateral membrane potential for Na+ reabsorption in the DCT.
SUMMARY
Altogether, these findings extend the genetic spectrum of Gitelman-like electrolyte alterations. Genetic testing of patients with hypomagnesemia and hypokalemia should cover a panel of genes involved in Gitelman-like syndromes, including the mitochondrial genome.
Topics: Alkalosis; Bartter Syndrome; Gitelman Syndrome; Humans; Hypokalemia; Magnesium; Sodium; Solute Carrier Family 12, Member 3
PubMed: 35894287
DOI: 10.1097/MNH.0000000000000818