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Electrolyte & Blood Pressure : E & BP Dec 2022Bartter syndrome (BS) is one of the most well-known hereditary tubular disorders, characterized by hypokalemic, hypochloremic metabolic alkalosis, and... (Review)
Review
Bartter syndrome (BS) is one of the most well-known hereditary tubular disorders, characterized by hypokalemic, hypochloremic metabolic alkalosis, and polyuria/polydipsia. This disease usually presents before or during infancy, and adult nephrologists often inherit the patients from pediatric nephrologists since this is a life-long condition. Here, a few case scenarios will be presented to recount how they first got diagnosed and how their clinical courses were during childhood until adulthood, in addition to a brief review of the disease and its treatment.
PubMed: 36688207
DOI: 10.5049/EBP.2022.20.2.49 -
Cureus Jan 2021Metabolic alkalosis is an increase in blood pH to >7.45 due to a primary increase in serum bicarbonate (HCO ). Metabolic alkalosis results from alkali accumulation or... (Review)
Review
Metabolic alkalosis is an increase in blood pH to >7.45 due to a primary increase in serum bicarbonate (HCO ). Metabolic alkalosis results from alkali accumulation or acid loss, and it is associated with a secondary increase in carbon dioxide arterial pressure (PCO). Metabolic alkalosis is a common acid-base disorder, especially in critically ill patients. The pathogenesis of chronic metabolic alkalosis includes two derangements, generation of metabolic alkalosis via gain of alkali or loss of acid and maintenance of metabolic alkalosis by increased tubular HCO reabsorption (failure of the kidneys to excrete excess alkali). Metabolic alkalosis is the most common acid-base disorder in hospitalized patients, particularly in the surgical critical care unit. Mortality increases as pH increases.
PubMed: 33628696
DOI: 10.7759/cureus.12841 -
European Annals of Otorhinolaryngology,... May 2023
Topics: Humans; Hyperventilation; Hydrogen-Ion Concentration
PubMed: 36609116
DOI: 10.1016/j.anorl.2022.12.005 -
Journal of the Advanced Practitioner in... Jul 20235-fluorouracil (5-FU) is one of the most common adjuvant antineoplastic agents used in the treatment of localized and metastatic colon cancer. Frequent side effects of...
5-fluorouracil (5-FU) is one of the most common adjuvant antineoplastic agents used in the treatment of localized and metastatic colon cancer. Frequent side effects of 5-FU include myelosuppression, mucositis, nausea, vomiting, and diarrhea. However, hyperammonemic encephalopathy is a rare neurologic toxicity that can occur after 5-FU chemotherapy administration. Patients with 5-FU-induced hyperammonemic encephalopathy often exhibit symptoms of altered mental status with no radiologic abnormalities or laboratory abnormalities except for significantly elevated ammonia levels with occasional lactic acidosis and respiratory alkalosis. We report a case of a patient with stage IV colon adenocarcinoma who experienced altered state of consciousness due to hyperammonemia during the administration of palliative chemotherapy with 5-FU, bevacizumab, and leucovorin. On cycle 1 day 2 of chemotherapy, the patient became drowsy and confused at home, prompting a visit to the emergency department and ultimately hospital admission. Laboratory tests revealed an elevated blood ammonia level (838 μg/dL). After an extensive negative workup, his altered state of consciousness was thought to be secondary to 5-FU-induced hyperammonemia. Upon admission, 5-FU was immediately discontinued and the patient was treated with lactulose enemas, intravenous fluids, rifaximin, and continuous renal replacement therapy with gradual recovery to baseline mental status. It is crucial for advanced practitioners to be aware of this rare side effect to ensure prompt diagnosis and maximize treatment effectiveness.
PubMed: 37576363
DOI: 10.6004/jadpro.2023.14.5.6 -
American Journal of Translational... 2022Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy caused by biallelic inactivating mutations in the SLC12A3 gene. This gene encodes the... (Review)
Review
Gitelman syndrome (GS) is an autosomal recessive salt-losing tubulopathy caused by biallelic inactivating mutations in the SLC12A3 gene. This gene encodes the thiazide-sensitive sodium-chloride cotransporter (NCC) which is exclusively expressed in the distal convoluted tubules (DCT). GS patients classically present with hypokalemic metabolic alkalosis with hypocalciuria and hypomagnesemia. While hypokalemia and metabolic alkalosis are easily explained by effects of the genotypic defect in GS, the mechanisms by which hypomagnesemia and hypocalciuria develop in GS are poorly understood. In this review, we aim to achieve three major objectives. First, present a concise discussion about current understanding on physiologic calcium and magnesium handling in the DCT. Second, integrate expression data from studies on calciotropic and magnesiotropic proteins relevant to the GS disease state. Lastly, provide insights into the possible mechanisms of calcium-magnesium crosstalk relating to the co-occurrence of hypocalciuria and hypomagnesemia in GS models. Our analyses highlight specific areas of study that are valuable in elucidating possible molecular pathways of hypocalciuria and hypomagnesemia in GS.
PubMed: 35173827
DOI: No ID Found -
Clinical Practice and Cases in... May 2024Diabetic ketoacidosis (DKA) is a common diagnosis in the emergency department (ED). However, one must consider other causes for acid-base disturbances when the pattern...
INTRODUCTION
Diabetic ketoacidosis (DKA) is a common diagnosis in the emergency department (ED). However, one must consider other causes for acid-base disturbances when the pattern is not consistent with typical presentation.
CASE REPORT
A 52-year-old female with a history of insulin-dependent diabetes mellitus type 2 presented to the ED with abdominal pain, nausea, and vomiting for three days. Her diagnostic workup revealed diabetic ketoacidosis but with concurrent metabolic alkalosis. Standard treatment for DKA was initiated, and there was improvement of her mentation and resolution of metabolic derangements.
CONCLUSION
Overlooking a diagnosis of DKA because of alkalosis on venous blood gas testing could lead to inappropriate treatment and, therefore, increased risk of morbidity and mortality in the affected patient.
PubMed: 38869331
DOI: 10.5811/cpcem.1389 -
The Journal of Physiology Dec 2021The regulation and defence of intracellular pH is essential for homeostasis. Indeed, alterations in cerebrovascular acid-base balance directly affect cerebral blood flow...
The regulation and defence of intracellular pH is essential for homeostasis. Indeed, alterations in cerebrovascular acid-base balance directly affect cerebral blood flow (CBF) which has implications for human health and disease. For example, changes in CBF regulation during acid-base disturbances are evident in conditions such as chronic obstructive pulmonary disease and diabetic ketoacidosis. The classic experimental studies from the past 75+ years are utilized to describe the integrative relationships between CBF, carbon dioxide tension (PCO ), bicarbonate (HCO ) and pH. These factors interact to influence (1) the time course of acid-base compensatory changes and the respective cerebrovascular responses (due to rapid exchange kinetics between arterial blood, extracellular fluid and intracellular brain tissue). We propose that alterations in arterial [HCO ] during acute respiratory acidosis/alkalosis contribute to cerebrovascular acid-base regulation; and (2) the regulation of CBF by direct changes in arterial vs. extravascular/interstitial PCO and pH - the latter recognized as the proximal compartment which alters vascular smooth muscle cell regulation of CBF. Taken together, these results substantiate two key ideas: first, that the regulation of CBF is affected by the severity of metabolic/respiratory disturbances, including the extent of partial/full acid-base compensation; and second, that the regulation of CBF is independent of arterial pH and that diffusion of CO across the blood-brain barrier is integral to altering perivascular extracellular pH. Overall, by realizing the integrative relationships between CBF, PCO , HCO and pH, experimental studies may provide insights to improve CBF regulation in clinical practice with treatment of systemic acid-base disorders.
Topics: Acid-Base Equilibrium; Acidosis; Alkalosis; Bicarbonates; Carbon Dioxide; Cerebrovascular Circulation; Humans; Hydrogen-Ion Concentration
PubMed: 34705265
DOI: 10.1113/JP281517 -
Frontiers in Physiology 2022In 2009, two groups independently linked human mutations in the inwardly rectifying K channel Kir4.1 (gene name ) to a syndrome affecting the central nervous system... (Review)
Review
In 2009, two groups independently linked human mutations in the inwardly rectifying K channel Kir4.1 (gene name ) to a syndrome affecting the central nervous system (CNS), hearing, and renal tubular salt reabsorption. The autosomal recessive syndrome has been named EAST (epilepsy, ataxia, sensorineural deafness, and renal tubulopathy) or SeSAME syndrome (seizures, sensorineural deafness, ataxia, intellectual disability, and electrolyte imbalance), accordingly. Renal dysfunction in EAST/SeSAME patients results in loss of Na, K, and Mg with urine, activation of the renin-angiotensin-aldosterone system, and hypokalemic metabolic alkalosis. Kir4.1 is highly expressed in affected organs: the CNS, inner ear, and kidney. In the kidney, it mostly forms heteromeric channels with Kir5.1 (). Biallelic loss-of-function mutations of Kir5.1 can also have disease significance, but the clinical symptoms differ substantially from those of EAST/SeSAME syndrome: although sensorineural hearing loss and hypokalemia are replicated, there is no alkalosis, but rather acidosis of variable severity; in contrast to EAST/SeSAME syndrome, the CNS is unaffected. This review provides a framework for understanding some of these differences and will guide the reader through the growing literature on Kir4.1 and Kir5.1, discussing the complex disease mechanisms and the variable expression of disease symptoms from a molecular and systems physiology perspective. Knowledge of the pathophysiology of these diseases and their multifaceted clinical spectrum is an important prerequisite for making the correct diagnosis and forms the basis for personalized therapies.
PubMed: 35370765
DOI: 10.3389/fphys.2022.852674 -
Paediatric Anaesthesia Jul 2020Infantile hypertrophic pyloric stenosis (IHPS) leads to excessive vomiting and metabolic alkalosis, which may subsequently cause apnea. Although it is generally assumed... (Review)
Review
BACKGROUND
Infantile hypertrophic pyloric stenosis (IHPS) leads to excessive vomiting and metabolic alkalosis, which may subsequently cause apnea. Although it is generally assumed that metabolic derangements should be corrected prior to surgery to prevent apnea, the exact incidence of perioperative apneas in infants with IHPS and the association with metabolic alkalosis are unknown. We performed this systematic review to assess the incidence of apnea in infants with IHPS and to verify the possible association between apnea and metabolic alkalosis.
METHODS
We searched MEDLINE, Embase, and Cochrane library to identify studies regarding infants with metabolic alkalosis, respiratory problems, and hypertrophic pyloric stenosis. We conducted a descriptive synthesis of the findings of the included studies.
RESULTS
Thirteen studies were included for analysis. Six studies described preoperative apnea, three studies described postoperative apnea, and four studies described both. All studies were of low quality or had other research questions. We found an incidence of 27% of preoperative and 0.2%-16% of postoperative apnea, respectively. None of the studies examined the association between apnea and metabolic alkalosis in infants with IHPS.
CONCLUSIONS
Infants with IHPS may have a risk to develop perioperative apnea. However, the incidence rates should be interpreted with caution because of the low quality and quantity of the studies. Therefore, further studies are required to determine the incidence of perioperative apnea in infants with IHPS. The precise underlying mechanism of apnea in these infants is still unknown, and the role of metabolic alkalosis should be further evaluated.
Topics: Apnea; Humans; Incidence; Infant; Pyloric Stenosis, Hypertrophic
PubMed: 32298502
DOI: 10.1111/pan.13879