Congenital chloride diarrhea (CLD) is a rare inherited autosomal recessive disorder. Mutations of the solute carrier family 26 member 3 gene cause profuse, chloride ion rich diarrhea, which results in hypochloremia, hyponatremia and metabolic alkalosis with dehydration. If a fetal ultrasound shows bowel dilatation suggestive of bowel obstruction, or if a neonate shows persistent diarrhea and metabolic alkalosis, CLD should be considered in the differential diagnosis. The severity of CLD varies, but early detection and early therapy can prevent complications including growth failure. We report a case of dizygotic twins affected by CLD who had been born to non-consanguineous parents. Both of them showed growth failure, but one of the twins experienced worse clinical course. He showed developmental delay, along with dehydration and severe electrolyte imbalance. He was diagnosed with CLD first at 6-month age, and then the other one was also diagnosed with CLD.
Alkalosis ; Dehydration ; Diagnosis, Differential ; Diarrhea ; Dilatation ; Humans ; Hyponatremia ; Infant, Newborn ; Metabolism, Inborn Errors ; Parents ; Polyhydramnios ; Secondary Prevention ; Twins, Dizygotic

We report a patient with systemic lupus erythematosus (SLE), who had developed metabolic alkalosis during plasmapheresis. The metabolic alkalosis could be promptly corrected by reducing the amount of citrate load. The development of metabolic alkalosis can be explained by the citrate load during plasmapheresis. Careful monitoring of acid base status is mandatory in patients with limited renal function and the reduction of citrate load may be advisable in plasmapheresis.
Adolescent ; Alkalosis/*etiology ; Citrates ; Citric Acid ; Female ; Humans ; Lupus Erythematosus, Systemic/*metabolism/therapy ; Plasmapheresis/*adverse effects/methods

Virtually all of the dietary potassium intake is absorbed in the intestine, over 90% of which is excreted by the kidneys regarded as the most important organ of potassium excretion in the body. The renal excretion of potassium results primarily from the secretion of potassium by the principal cells in the aldosterone-sensitive distal nephron (ASDN), which is coupled to the reabsorption of Na⁺ by the epithelial Na⁺ channel (ENaC) located at the apical membrane of principal cells. When Na⁺ is transferred from the lumen into the cell by ENaC, the negativity in the lumen is relatively increased. K⁺ efflux, H⁺ efflux, and Cl^- influx are the 3 pathways that respond to Na⁺ influx, that is, all these 3 pathways are coupled to Na⁺ influx. In general, Na⁺ influx is equal to the sum of K⁺ efflux, H⁺ efflux, and Cl^- influx. Therefore, any alteration in Na⁺ influx, H⁺ efflux, or Cl^- influx can affect K⁺ efflux, thereby affecting the renal K⁺ excretion. Firstly, Na⁺ influx is affected by the expression level of ENaC, which is mainly regulated by the aldosterone-mineralocorticoid receptor (MR) pathway. ENaC gain-of-function mutations (Liddle syndrome, also known as pseudohyperaldosteronism), MR gain-of-function mutations (Geller syndrome), increased aldosterone levels (primary/secondary hyperaldosteronism), and increased cortisol (Cushing syndrome) or deoxycorticosterone (hypercortisolism) which also activate MR, can lead to up-regulation of ENaC expression, and increased Na⁺ reabsorption, K⁺ excretion, as well as H⁺ excretion, clinically manifested as hypertension, hypokalemia and alkalosis. Conversely, ENaC inactivating mutations (pseudohypoaldosteronism type 1b), MR inactivating mutations (pseudohypoaldosteronism type 1a), or decreased aldosterone levels (hypoaldosteronism) can cause decreased reabsorption of Na⁺ and decreased excretion of both K⁺ and H⁺, clinically manifested as hypotension, hyperkalemia, and acidosis. The ENaC inhibitors amiloride and Triamterene can cause manifestations resembling pseudohypoaldosteronism type 1b; MR antagonist spironolactone causes manifestations similar to pseudohypoaldosteronism type 1a. Secondly, Na⁺ influx is regulated by the distal delivery of water and sodium. Therefore, when loss-of-function mutations in Na⁺-K⁺-2Cl^- cotransporter (NKCC) expressed in the thick ascending limb of the loop and in Na⁺-Cl^- cotransporter (NCC) expressed in the distal convoluted tubule (Bartter syndrome and Gitelman syndrome, respectively) occur, the distal delivery of water and sodium increases, followed by an increase in the reabsorption of Na⁺ by ENaC at the collecting duct, as well as increased excretion of K⁺ and H⁺, clinically manifested as hypokalemia and alkalosis. Loop diuretics acting as NKCC inhibitors and thiazide diuretics acting as NCC inhibitors can cause manifestations resembling Bartter syndrome and Gitelman syndrome, respectively. Conversely, when the distal delivery of water and sodium is reduced (e.g., Gordon syndrome, also known as pseudohypoaldosteronism type 2), it is manifested as hypertension, hyperkalemia, and acidosis. Finally, when the distal delivery of non-chloride anions increases (e.g., proximal renal tubular acidosis and congenital chloride-losing diarrhea), the influx of Cl^- in the collecting duct decreases; or when the excretion of hydrogen ions by collecting duct intercalated cells is impaired (e.g., distal renal tubular acidosis), the efflux of H⁺ decreases. Both above conditions can lead to increased K⁺ secretion and hypokalemia. In this review, we focus on the regulatory mechanisms of renal potassium excretion and the corresponding diseases arising from dysregulation.
Humans ; Bartter Syndrome/metabolism* ; Pseudohypoaldosteronism/metabolism* ; Potassium/metabolism* ; Aldosterone/metabolism* ; Hypokalemia/metabolism* ; Gitelman Syndrome/metabolism* ; Hyperkalemia/metabolism* ; Clinical Relevance ; Epithelial Sodium Channels/metabolism* ; Kidney Tubules, Distal/metabolism* ; Sodium/metabolism* ; Hypertension ; Alkalosis/metabolism* ; Water/metabolism* ; Kidney/metabolism*

PURPOSE: D-lactate, optical isomer of L-lactate is not a human metabolite. Once the D-lactate enters the human body, it is mainly metabolized in liver. The metabolism of D-lactate can be changed in patients with decompensated liver cirrhosis with the exposure of antibiotics and the frequent trial of lactulose, if neccessory. The aim of this study is to analyze blood D-lactate level in cirrhotic patients and it's relationship with the degree of hepatic insufficiency and acid-base imbalance. METHODS: Plasma L-lactate and D-lactate levels were measured in 40 cirrhotic patients classified by Child-Pugh system with L-LDH and D-LDH with comparison of their changes before and after the use of antibiotics and lactulose(n=14). Also, acid-base disorders were analyzed in 35 cirrhotic patients, and plasma L, D-lactate levels were determined in each acid-base disorder. RESULTS: Plasma D-lactate level was not significantly elevated in cirrhotic patients compared to the control group(2.34+/-.48 mmol/L vs. 1.63+/-.26 mmol/ L, p=NS), but some patients(n=4, 10%) revealed abnormally elevated D-lactate level. The plasma L, D- lactate levels were not different in subgroups classified by Child-Pugh system as well as by underlying causes of liver cirrhosis, and plasma D-lactate level was not sugnificnatly different before and after the exposure of antibiotics and lactulose. Plasma D-lactate level was significantly increased in 3 patients with respiratory alkalosis and metabolic acidosis(12+/-.98 mmol/L) compared to others(p<0.05). CONCLUSION: These results suggest that, regardless of its decompensated degree and exposure to drugs, a subset of patients with liver cirrhosis can develop elevation of D-lactate in blood, particularly when metabolic acidosis is accompanied.
Acid-Base Imbalance* ; Acidosis ; Alkalosis, Respiratory ; Anti-Bacterial Agents ; Hepatic Insufficiency ; Human Body ; Humans ; Lactic Acid ; Lactulose ; Liver ; Liver Cirrhosis ; Metabolism ; Plasma*

Idiopathic hypoparathyroidism is a relatively rare disease characterized by hypocalcemia and hyperphosphatemia: this is due to a deficiency or a sereretory disorder of the parathyroid hormone without any prior operation nor underlying medical disoder. Calcium carbonate and vitamin D substitution are generally considered as the mainstay of therapy, but these treatments can cause hypercalcemia and hypercalciuria. Persistent ingestion of large amount of calcium carbonate can cause milk-alkali syndrome that is characterized by hypercalcemia, metabolic alkalosis and renal failure. Once a patient is diagnosed with milk-alkali syndrome, withdrawal of calcium carbonate and vitamin D is essential and treatment with saline diuresis and furosemide is the usually effective. In treatmenf of hypoparathyroidism with calcium carbonate and vitamin D substitution, evaluation of serum calcium and urinary calcium excretion is essential to avoid hypercalcemia and ypercalciuria. We concluded that during treatment with calcium carbonate and vitamin D substitution for patients with idiopathic hypoparathyroidism, they should have carefully laboratory monitoring, and they should be made aware of the circumstances influencing calcium metabolism
Alkalosis ; Calcium ; Calcium Carbonate ; Diuresis ; Eating ; Furosemide ; Humans ; Hypercalcemia* ; Hypercalciuria ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism* ; Metabolism ; Parathyroid Hormone ; Rare Diseases ; Renal Insufficiency ; Vitamin D

Idiopathic hypoparathyroidism is a relatively rare disease characterized by hypocalcemia and hyperphosphatemia: this is due to a deficiency or a sereretory disorder of the parathyroid hormone without any prior operation nor underlying medical disoder. Calcium carbonate and vitamin D substitution are generally considered as the mainstay of therapy, but these treatments can cause hypercalcemia and hypercalciuria. Persistent ingestion of large amount of calcium carbonate can cause milk-alkali syndrome that is characterized by hypercalcemia, metabolic alkalosis and renal failure. Once a patient is diagnosed with milk-alkali syndrome, withdrawal of calcium carbonate and vitamin D is essential and treatment with saline diuresis and furosemide is the usually effective. In treatmenf of hypoparathyroidism with calcium carbonate and vitamin D substitution, evaluation of serum calcium and urinary calcium excretion is essential to avoid hypercalcemia and ypercalciuria. We concluded that during treatment with calcium carbonate and vitamin D substitution for patients with idiopathic hypoparathyroidism, they should have carefully laboratory monitoring, and they should be made aware of the circumstances influencing calcium metabolism
Alkalosis ; Calcium ; Calcium Carbonate ; Diuresis ; Eating ; Furosemide ; Humans ; Hypercalcemia* ; Hypercalciuria ; Hyperphosphatemia ; Hypocalcemia ; Hypoparathyroidism* ; Metabolism ; Parathyroid Hormone ; Rare Diseases ; Renal Insufficiency ; Vitamin D

Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.
Adolescent ; Adrenal Hyperplasia, Congenital ; diagnosis ; genetics ; Alkalosis ; diagnosis ; Diagnosis, Differential ; Female ; Humans ; Hypertension ; diagnosis ; Hypokalemia ; diagnosis ; Models, Biological ; Paralysis ; diagnosis ; Sexual Infantilism ; diagnosis ; Steroid 21-Hydroxylase ; metabolism

We performed experiments to study the effects of acutely increased inracranial pressure on cereral gas metabolism. The results and findings were reported to The Journal of Catholic Medical College,(Vol. 24) 1973. We thereafter evaluated cerebral gas metabolism of fifty patients with acute cerebral lesions. Cerebral gas metabolism was measured by determining the pO2, pCO2, and pH values of arterial and venous blood and of the cerebrospinal fluid. Samplings of venous blood were obtained from the internal jugular vein. In the determination of the pH, pO2 and pCO2 of arterial and venous blood and cerebro-spinal fluid, the "Radiometer BMS 3 with Digital Acid-Base Analyser PHM 72" was used. These 50 patients had their gas metabolism measured at interval of 2 or 3 days, from the time of their admission to the time of either their recovery or death. The following observations were made 1. The 50 patients studied and observed included. a) Brain contusion 13 cases. b) Epidural or subdural hematoma 11 cases. c) Skull fracture 10 cases. d) Intracerebral hemorrhage 5 cases. e) Scalp laceration 1 cases. f) Arteriovenous malformation or cerebral rete 5 cases. g) Traumatic subarachnoid hemorrhage 1 cases. h) Intracranial aneurysm 4 cases. 2. There 50 patients have been subdivided according to level of consciousness as follows: a) Group A-Those who were alert with no neurological deficit. b) Group B-Those who were drowsy with mild neurological deficit. c) Group C-Those who were stuporous with severe neurological deficit. d) Group D-Those who were in coma. 3. It was observed that the pH, pO2, and pCO2 content of the arterial and venous blood and cerebrospinal fluid of those in Group A were within normal ranges. 4. Many cases classified under Group B had respiratory alkalosis of the arterial blood. However those who recovered or became worse revealed no noticeable changes in the cerebral gas metabolism studies. 5. Many cases classified under Group C had respiratory alkalosis in their arterial blood but only a few showed metabolic acidosis in the cerebrospinal fluid. However the patients who became worse manifested a marked metabolic acidosis in the cerebrospinal fluid. 6. Several patients in Group D had severe respiratory alkalosis as well as metabolic alkalosis in their arterial blood and marked metabolic acidosis in the their cerebrospinal fluid. 7. "Luxury perfusion syndrome" was not seen in any of the fifty cases studied. 8. Only a few cases manifested arterial hypoxemia in the all group. We believe this was due to the fact that tracheostomy and hyperventilation were done in the early stages with the aim of reducing the raised intracranial pressure.
Acidosis ; Alkalosis ; Alkalosis, Respiratory ; Anoxia ; Arteriovenous Malformations ; Brain Injuries ; Brain* ; Cerebral Hemorrhage ; Cerebrospinal Fluid ; Coma ; Consciousness ; Hematoma, Subdural ; Humans ; Hydrogen-Ion Concentration ; Hyperventilation ; Intracranial Aneurysm ; Intracranial Pressure ; Jugular Veins ; Lacerations ; Metabolism ; Perfusion ; Reference Values ; Scalp ; Skull Fractures ; Stupor ; Subarachnoid Hemorrhage, Traumatic ; Tracheostomy

Urea cycle disorders are characterized by encephalopathy, respiratory alkalosis, and hyperammonemia. A urea cycle disorder should be considered a diagnostic possibility in any patient regardless of age with occult encephalopathy. The most common central nervous system pathology of urea cycle disorder is cerebral edema. The cerebral edema is caused by astrocyte swelling secondary to hyperammonemia and intracellular glutamine accumulation. Strokes in children occur in conjunction with cardiac disease, hematologic disorders, mitochondrial encephalopathy, trauma, intracranial infections and migraines. Recently, several inborn errors in metabolism have been recognized as possible causes of stroke. To our knowledge, there have been several reports on ornithine transcarbamylase deficiency with stroke. However, the case of citrullinemia presenting with a stroke-like episode has not been described previously. We report two infantile cases of citrullinemia with initial presentation of stroke. The differential diagnosis of unexplained strokes should include inborn errors of urea cycle metabolism during childhood.
Alkalosis, Respiratory ; Astrocytes ; Brain Edema ; Central Nervous System ; Child ; Citrullinemia* ; Diagnosis, Differential ; Glutamine ; Heart Diseases ; Humans ; Hyperammonemia ; Metabolism ; Migraine Disorders ; Mitochondrial Diseases ; Ornithine Carbamoyltransferase Deficiency Disease ; Pathology ; Stroke* ; Urea ; Urea Cycle Disorders, Inborn

The sudden onset of respiratory acidosis or alkalosis due to inadequate ventilation during general inhalation anesthesia may influence the action of neuromuscular blocking agents. In virtro animal studies by Funk et al.(1980) suggested that the neuromuscular blocking action of Org NC 45(NC) was minimally depressed above pH 7.68 and significantly potentiated under acidotic conditions(pH 7.05). They proposed that this was the result of an increase in NC metabolism by alkaline hydrolysis in the alkalotic state and greater molecular stability during acidosis. This study was performed to determine the effects of the neuromuscular blocking action of NC during respiratory acidosis and alkalosis. The patients were divided in to 3 groups: 1, ll & lll and experienced normocarbia, hypocarbia and hypercarbia, respectively. Hypocarbia was induced by hyperventilation and hypercarbia by adjustment of a rebreathing valve in the CO2 absorber in the semiclosed system. Simultaneously, arterial blood samples were collected from radial arteries for arterial blood gas analysis including pH and pCO2. Following the administration of succinylcholine(SCC) and the recovery of a 75% twitch height, ED95 of NC was given to the patient and the results were recorded by an evoked electromyograph (NMT, Datex). The results are follows: 1) The number of patients in groups l, ll and lll were 22, 13 and 8, respectively. The patients in each group were evenly distributed with respect to age, body weight and anesthesia. 2) The end-tidal CO2 tension in group l, ll and lll group was 38.86+/-4.62, 20.23+/-2.42 and 52.00+/-4.86mmHg, and the arterial pCO2(pH) was 37.36+/-5.71(7.461+/-0.054), 23.00+/-1.51(7.649+/-0.032) and 53.29+3.35 mmHg(7.314+/-0.026), resptectively. The end-tidal CO2 tension, arterial CO2 tension and pH in group ll and lll were significantly different from those of group l(p<0.05). 3) The onset time of SCC in group ll and lll was shorter than that in group l (p<0.05), but within 1 min in all groups. The duration of SCC in group lll(19.56+/-6.15min) was longer than that in group l (14.74+/-4.56min) (p<0.05). 4) Although there was no significant difference among the groups with respect to onset time and duration, the recovery index in group ll(10.29+/-2.21min) was significantly different from group l and lll(14.76+/-5.26 and 13.50+/-13.67 min, respectively) (p<0.05). After administration of NC in 5 min intervals, twitch tension was measured and the results were inserted into a regression equation which emphasized the delayed recovery in group lll(r=0.87). In conclusion, the recovery index in alkalosis shortened and the initial twitch tension in acidosis following NC administration was delayed compared to that in normocapnis and alkalosis. Patients with alkalosis may require more frequent doses of NC and continuous monitoring following repeated or continuous infusion in acidosis.
Acid-Base Equilibrium ; Acidosis ; Acidosis, Respiratory ; Alkalosis ; Anesthesia ; Anesthesia, Inhalation ; Animals ; Arterial Pressure ; Blood Gas Analysis ; Body Weight ; Humans ; Hydrogen-Ion Concentration ; Hydrolysis ; Hyperventilation ; Metabolism ; Neuromuscular Blockade* ; Neuromuscular Blocking Agents ; Radial Artery ; Vecuronium Bromide* ; Ventilation