Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency is a rare inborn error of ketone body utilization, characterized by episodic or permanent ketosis. SCOT deficiency is caused by mutations in the OXCT1 gene, which is mapped to 5p13 and consists of 17 exons. A 12-month-old girl presented with severe ketoacidosis and was treated with continuous renal replacement therapy. She had two previously unrecognized mild-form episodes of ketoacidosis followed by febrile illness. While high levels of ketone bodies were found in her blood and urine, other laboratory investigations, including serum glucose, were unremarkable. We identified novel compound heterozygous mutations in OXCT1:c.1118T>G (p.Ile373Ser) and a large deletion ranging from exon 8 to 16 through targeted exome sequencing and microarray analysis. This is the first Korean case of SCOT deficiency caused by novel mutations in OXCT1, resulting in life-threatening ketoacidosis. In patients with unexplained episodic ketosis, or high anion gap metabolic acidosis in infancy, an inherited disorder in ketone body metabolism should be suspected.
Acid-Base Equilibrium ; Acidosis ; Blood Glucose ; Exome ; Exons ; Female ; Humans ; Infant ; Ketone Bodies ; Ketosis ; Metabolism ; Microarray Analysis ; Renal Replacement Therapy ; Transferases

BACKGROUND: We investigated the relationship between serum total carbon dioxide (CO₂) and bicarbonate ion (HCO₃⁻) concentrations in pre-dialysis chronic kidney disease (CKD) patients and devised a formula for predicting low bicarbonate (HCO₃⁻< 24 mmol/L) and high bicarbonate (HCO₃⁻ ≥ 24 mmol/L) using clinical parameters. METHODS: In total, 305 samples of venous blood collected from 207 pre-dialysis patients assessed by CKD stage (G1 + G2, 46; G3, 50; G4, 51; G5, 60) were investigated. The relationship between serum total CO₂ and HCO₃⁻ concentrations was analyzed using Pearson’s correlation coefficient. An approximation formula was developed using clinical parameters correlated independently with HCO₃⁻ concentration. Diagnostic accuracy of serum total CO₂ and the approximation formula was evaluated by receiver operating characteristic curve analysis and a 2 × 2 table. RESULTS: Serum total CO₂ correlated strongly with HCO₃⁻ concentration (r = 0.91; P < 0.001). The following approximation formula was obtained by a multiple linear regression analysis: HCO₃⁻ (mmol/L) = total CO₂ − 0.5 × albumin − 0.1 × chloride − 0.01 × (estimated glomerular filtration rate + blood glucose) + 15. The areas under the curves of serum total CO₂ and the approximation formula for detection of low bicarbonate and high bicarbonate were 0.981, 0.996, 0.993, and 1.000, respectively. This formula had superior diagnostic accuracy compared with that of serum total CO₂ (86.6% vs. 81.3%). CONCLUSION: Serum total CO₂ correlated strongly with HCO₃⁻ concentration in pre-dialysis CKD patients. An approximation formula including serum total CO₂ showed superior diagnostic accuracy for low and high bicarbonate compared with serum total CO₂.
Acid-Base Equilibrium ; Bicarbonates ; Carbon Dioxide ; Carbon ; Glomerular Filtration Rate ; Humans ; Linear Models ; Renal Insufficiency, Chronic ; ROC Curve

OBJECTIVE: Reliable biomarkers of delayed neuropsychological sequelae (DNS) after acute carbon monoxide (CO) poisoning are lacking. This study investigated the associations between potential serum markers and the development of DNS after acute CO poisoning. METHODS: Retrospective chart reviews were conducted for patients diagnosed with acute CO poisoning during a 28-month period. The patients were divided into two groups according to the presence or absence of having developed DNS. Multivariate analysis was performed to identify predictors of DNS after CO poisoning. RESULTS: Of a total of 102 patients, 10 (9.8%) developed DNS. The levels of serum osmolarity, S100B protein, and serum lactate, as well as serum anion gap, were statistically significant in univariate analysis. Multiple logistic regression analysis showed that anion gap (adjusted odds ratio [AOR], 1.36; 95% confidence interval [CI], 1.11 to 1.88), serum lactate level (AOR, 1.74; 95% CI, 1.26 to 2.75), and serum S100B protein level ([AOR, 7.02×10⁵; 95% CI, 4.56×10² to 9.00×10¹⁰] in model 1, [AOR, 3.69×10⁵; 95% CI, 2.49×10² to 2.71×10¹¹] in model 2) were independently associated with DNS development. CONCLUSION: Based on our preliminary results, serum lactate level, serum anion gap, and serum S100B protein level in the emergency department could be informative predictors of DNS development in patients with acute CO poisoning. These markers might have the potential to improve early recognition of DNS in patients with acute CO poisoning.
Acid-Base Equilibrium ; Biomarkers* ; Carbon Monoxide Poisoning* ; Carbon Monoxide* ; Carbon* ; Emergency Service, Hospital ; Humans ; Interleukin-6* ; Lactic Acid* ; Logistic Models ; Multivariate Analysis ; Neurotoxicity Syndromes ; Odds Ratio ; Osmolar Concentration* ; Poisoning ; Retrospective Studies

Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys. They had hypokalemia and normal anion gap metabolic acidosis due to distal renal tubular acidosis and positive anti-SS-A and anti-SS-B autoantibodies. Since one of them experienced femoral fracture due to osteomalacia secondary to renal tubular acidosis, an earlier diagnosis of pSS is important in preventing serious complications.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Renal Tubular* ; Autoantibodies ; Diagnosis ; Exocrine Glands ; Fanconi Syndrome ; Female ; Femoral Fractures ; Glomerulonephritis ; Humans ; Hypokalemia ; Kidney ; Muscle Weakness ; Nephritis, Interstitial ; Osteomalacia ; Paralysis ; Saliva ; Tears

Recurrent acute pancreatic attacks is a rare clinical condition (2-5% of all acute pancreatis) in children and is mainly idiopathic in most cases. Sometimes it may be associated with congenital anomalies, metabolic diseases or hereditary conditions. Isovaleric acidemia (IVA) is a rare autosomal recessive amino acid metabolism disorder associated with isovaleryl coenzyme A dehydrogenase deficiency presenting the clinical findings such metabolic acidosis with increased anion gap, hyperammonemia, ketonemia, hypoglycemia, “the odor of sweaty feet,” abdominal pain, vomiting, feeding intolerance, shock and coma. Recurrent acute pancreatitis associated with IVA have been rarely reported. Herein; we report a child who admitted with recurrent acute pancreatic attacks and had the final diagnosis of IVA. Mutation analysis revealed a novel homozygous mutation of (p.E117K [c.349G>A]) in the IVA gene. Organic acidemias must kept in mind in the differential diagnosis of recurrent acute pancreatic attacks in children.
Abdominal Pain ; Acid-Base Equilibrium ; Acidosis ; Child* ; Coma ; Diagnosis ; Diagnosis, Differential ; Humans ; Hyperammonemia ; Hypoglycemia ; Isovaleryl-CoA Dehydrogenase ; Ketosis ; Metabolic Diseases ; Metabolism ; Odors ; Pancreatitis* ; Shock ; Vomiting

PURPOSE: Extracorporeal treatment has been used increasingly to treat patients with acute ethylene glycol poisoning. We analyzed all patients with acute poisoning of ethylene glycol during a recent 10-year period to provide clinical recommendations for adequate application of continuous renal replacement therapy for these patients. METHODS: A retrospective chart review study was conducted for patients whose final diagnosis were “toxic effects of glycols or other alcohols,” between October 2006 and September 2016. The basal characteristics of patients, suspected amount of ingestion, intention of poisoning, concomitant alcohol ingestion, mental state at admission, time from exposure to admission, chief complaint, length of hospital stay, method of treatments, laboratory results including acute kidney injury and urine oxalate crystal, as well as treatment results were examined. RESULTS: A total number of 14 patients were included in this study. Nine patients (64.3%) underwent continuous renal replacement therapy; 5 patients (35.7%) underwent ethanol mono-therapy. Between the antidote therapy group and the extracorporeal treatment group, there was a significant difference in the levels of plasma bicarbonate, chloride, anion gap, pH, and base excess in arterial blood gas analysis, as well as the calculated osmolar gap. One patient expired due to multi-organ failure, while the others recovered completely. CONCLUSION: Continuous renal replacement therapy was most frequently chosen as a treatment method in patients with acute ethylene glycol poisoning. Further research regarding indication of continuous renal replacement therapy and combing therapy with other treatment will be necessary to determine the best treatment method.
Acid-Base Equilibrium ; Acute Kidney Injury ; Animals ; Blood Gas Analysis ; Comb and Wattles ; Diagnosis ; Eating ; Ethanol ; Ethylene Glycol* ; Glycols ; Humans ; Hydrogen-Ion Concentration ; Intention ; Length of Stay ; Methods* ; Plasma ; Poisoning* ; Renal Replacement Therapy ; Retrospective Studies

PURPOSE: The purpose of this study was to compare the effects of 21℃ CO₂ and 37℃ CO₂ pneumoperitoneum on body temperature, blood pressure, heart rate, and acid-base balance. METHODS: Data were collected at a 1300-bed university hospital in Incheon, from February through September 2012. A total of 74 patients who underwent laparoscopic colectomy under general anesthesia with desflurane were randomly allocated to either a control group or an experimental group. The control group received 21℃ CO₂ pneumoperitoneum; the experimental group received 37℃ CO₂ pneumoperitoneum. The pneumoperitoneum of the two groups was under abdominal pressure 15 mmHg. Body temperature, systolic blood pressure, heart rate and acid-base balance were assessed at 30 minutes and 90 minutes after pneumoperitoneum, and again at 30 minutes after arriving at the Post Anesthesia Care Unit. RESULTS: Body temperature in the 37℃ CO2 pneumoperitoneum group was significantly higher (F=9.43, p<.001) compared to the 21℃ CO₂ group. However, there were no statistically significant differences in systolic blood pressure (p=.895), heart rate (p=.340), pH (p=.231), PaCO₂ (p=.490) and HCO3- (p=.768) between the two groups. CONCLUSION: Pneumoperitoneum of 37℃ CO₂ is effective for the increase of body temperature compared to pneumoperitonium of 21℃ CO₂, and it does not result in a decrease of blood pressure, heart rate or acid-base imbalance.
Acid-Base Equilibrium* ; Acid-Base Imbalance ; Anesthesia ; Anesthesia, General ; Blood Pressure* ; Body Temperature Changes ; Body Temperature* ; Carbon Dioxide* ; Carbon* ; Colectomy ; Heart Rate* ; Heart* ; Hemodynamics ; Humans ; Hydrogen-Ion Concentration ; Incheon ; Laparoscopy ; Pneumoperitoneum*

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. However, the role of pendrin in blood pressure regulation is likely of more physiological or clinical significance. Pendrin regulates blood pressure not only by mediating aldosterone-sensitive Cl⁻ absorption, but also by modulating the aldosterone response for epithelial Na⁺ channel (ENaC)-mediated Na⁺ absorption. Pendrin regulates ENaC through changes in open channel of probability, channel surface density, and channels subunit total protein abundance. Thus, aldosterone stimulates ENaC activity through both direct and indirect effects, the latter occurring through its stimulation of pendrin expression and function. Therefore, pendrin contributes to the aldosterone pressor response. Pendrin may also modulate blood pressure in part through its action in the adrenal medulla, where it modulates the release of catecholamines, or through an indirect effect on vascular contractile force. This review describes how aldosterone and angiotensin II-induced signaling regulate pendrin and the contributory role of pendrin in distal nephron function and blood pressure.
Absorption ; Acid-Base Equilibrium ; Adrenal Medulla ; Aldosterone ; Alkalosis ; Angiotensin II ; Angiotensins ; Blood Pressure* ; Catecholamines ; Epithelial Sodium Channels ; Negotiating ; Nephrons ; Rodentia

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. However, the role of pendrin in blood pressure regulation is likely of more physiological or clinical significance. Pendrin regulates blood pressure not only by mediating aldosterone-sensitive Cl⁻ absorption, but also by modulating the aldosterone response for epithelial Na⁺ channel (ENaC)-mediated Na⁺ absorption. Pendrin regulates ENaC through changes in open channel of probability, channel surface density, and channels subunit total protein abundance. Thus, aldosterone stimulates ENaC activity through both direct and indirect effects, the latter occurring through its stimulation of pendrin expression and function. Therefore, pendrin contributes to the aldosterone pressor response. Pendrin may also modulate blood pressure in part through its action in the adrenal medulla, where it modulates the release of catecholamines, or through an indirect effect on vascular contractile force. This review describes how aldosterone and angiotensin II-induced signaling regulate pendrin and the contributory role of pendrin in distal nephron function and blood pressure.
Absorption ; Acid-Base Equilibrium ; Adrenal Medulla ; Aldosterone ; Alkalosis ; Angiotensin II ; Angiotensins ; Blood Pressure* ; Catecholamines ; Epithelial Sodium Channels ; Negotiating ; Nephrons ; Rodentia

Severe hypercapnia can be predicted by a decrease in cerebral electrical activity. The authors describe a sudden decrease in spectral entropy due to severe hypercapnia-induced respiratory acidosis in a patient with chronic pulmonary obstructive disease during lung resection. After two and a half hours of low tidal volume ventilation in the lateral position, the state entropy suddenly dropped from 45 to 7, without any changes in the effect-site concentration of propofol, end-tidal carbon dioxide (CO₂) tension, oxygen saturation, or arterial pressure. However, arterial blood gas analysis showed severe respiratory acidosis (pH 7.01, PaCO₂ 115 mmHg and PaO₂ 246 mmHg with FIO₂ of 0.5). Immediate hyperventilation improved the state entropy and acid-base balance. Electroencephalography-based spectral entropy can detect severe hypercapnia in chronic pulmonary obstructive disease patients with a large arterial to end-tidal CO2 difference due to prolonged hypoventilation during thoracic surgery.
Acid-Base Equilibrium ; Acidosis, Respiratory ; Arterial Pressure ; Blood Gas Analysis ; Carbon Dioxide ; Electroencephalography ; Entropy* ; Humans ; Hypercapnia* ; Hyperventilation ; Hypoventilation ; Lung ; Oxygen ; Propofol ; Thoracic Surgery ; Tidal Volume* ; Ventilation