• Childhood Kidney Diseases
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• v.25 no.1
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• pp.35-39
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• 2021

Bartter syndrome is an autosomal recessive hypokalemic salt-losing tubulopathy, and classic Bartter syndrome is associated with mutations in the CLCNKB gene. While chronic hypokalemia is known to induce renal cyst formation in different renal diseases, renal cyst formation in Bartter syndrome is rarely reported. Russian six-year-old identical male twins were referred to our hospital for the evaluation of renal cysts, which were incidentally detected on abdominal sonography due to diarrhea. Both twins had shown symptoms of polydipsia, polyuria, and nocturia since they were one year olds. Vital signs including blood pressure were normal in both twins. Renal sonography revealed nephromegaly, increased echogenicity of renal cortex, and various sized multiple cysts in both kidneys for both twins. Laboratory findings included hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis. Bartter syndrome with renal cysts were suspected. Genetic analysis for both twins confirmed a homozygous c.1614delC deletion on exon 15 of the CLCNKB gene, which was confirmed as a previously unreported variant to the best of our knowledge. They were managed with potassium chloride, nonsteroidal anti-inflammatory drugs, and angiotensin-converting-enzyme inhibitors. Metabolic alkalosis, hypokalemia, hypochloremia, and polyuria partially improved during the short course of treatment. This is the first report of a homozygous mutation in the CLCNKB gene in an identical twin, presenting with renal cysts.

• Korean Journal of Veterinary Service
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• v.46 no.1
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• pp.81-85
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• 2023

This case report is about hemolymph nodes found in a dairy cow whose function is still not fully elucidated. A 4-month Holstein cow presented severe respiratory symptoms and hematochezia for a while with respiratory acidosis and metabolic alkalosis. Coccidiosis was diagnosed and treated immediately, but the cow died from respiratory acidosis and metabolic alkalosis. At necropsy, no abnormal appearance in thoracic and peritoneal organs was observed, but hemolymph nodes were observed being multifocally stuck on omasum serosa and the subcutaneous fascia of abdominal region, and the larger dark red lymph nodes were found along the omasum great curvature. Microscopically, lymphoid depletion and lymphadenitis in the lymph nodes were examined to point systemic infection, and in the hemolymph node, multifocally demarcated pale lesions with macrophage infiltration and fibrin deposition nearby subcapsular sinus. In subcapsular sinus of the hemolymph node, rod to linear gram-negative bacteria were found. Through this study, we might conclude that the hemolymph node is involved in pathogen phagocytosis.

• Journal of Chest Surgery
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• v.17 no.1
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• pp.101-109
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• 1984

The influences of acute respiratory and metabolic acid-base disturbances on the carotid, renal and coronary blood flow were measured in dogs. Respiratory acidosis was induced by artificial respiration with 8% CO2 -02 gas mixture and respiratory alkalosis was induced by hyperventilation under the control of respirator. Metabolic acidosis and metabolic alkalosis were induced by intravenous infusion of 0.3N hydrochloric acid and 0.6M sodium bicarbonate solution. To observe the effect of hyperkalemia, isotonic potassium chloride solution was infused. CVI electromagnetic flowmeter probes were placed on the left common carotid artery, left renal artery and left circumflex coronary artery. Each flow was recorded on polygraph. 1. The carotid blood flow showed rapid showed rapid and marked increase in acute respiratory acidosis. Even in the cases when arterial blood pressure was lowered during the state of respiratory acidosis, carotid blood flow increased. By the infusion of hydrochloric acid, carotid blood flow increased slowly and returned to the previous label after discontinuation of the infusion. Carotid blood flow also increased by the infusion of large amount of sodium bicarbonate, but it might be the combined effect of expansion of extracellular fluid and compensatory elevation of carbon dioxide tension. 2.The renal blood flow remained unchanged during the acute acid-base disturbances, suggesting effective autoregulation. Renal blood flow, however, increased very slowly when the infusion of potassium chloride continued for a long period. 3.Although less marked than the carotid blood flow, the coronary blood flow increased in the acute respiratory and metabolic acidosis. In asphyxiated condition, coronary blood flow increased most markedly and this might be the combined effect of hypoxia, hypercapnea, and lowering of pH. In summary, the carotid blowflow showed more marked change in the acute respiratory and metabolic acidosis than the renal and coronary blood flow. Respiratory and metabolic components of acid-base disturbances may influence the local blood flow concomitantly, there being more differences in the individual responses, but respiratory component manifested more rapid and marked effect than metabolic component.

• Clinical and Experimental Pediatrics
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• v.53 no.8
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• pp.809-813
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• 2010

Bartter syndrome (BS) is an autosomal recessively inherited rare renal tubular disorder characterized by hypokalemic metabolic alkalosis and hyperreninemic hyperaldosteronism with normal to low blood pressure due to a renal loss of sodium. Genetically, BS is classified into 5 subtypes according to the underlying genetic defects, and BS is clinically categorized into antenatal BS and classical BS according to onset age. BS type I is caused by loss-of-function mutations in the $SLC12A1$ gene and usually manifests as antenatal BS. This report concerns a male patient with compound heterozygous missense mutations on $SLC12A1$ (p.C436Y and p.L560P) and atypical clinical and laboratory features. The patient had low urinary sodium and chloride levels without definite metabolic alkalosis until the age of 32 months, which led to confusion between BS and nephrogenic diabetes insipidus (NDI). In addition, the clinical onset of the patient was far beyond the neonatal period. Genetic study eventually led to the diagnosis of BS type I. The low urinary sodium and chloride concentrations may be caused by secondary NDI, and the later onset may suggest the existence of a genotype-phenotype correlation. In summary, BS type I may have phenotype variability including low urine sodium and chloride levels and later onset. A definitive diagnosis can be confirmed by genetic testing.

• Childhood Kidney Diseases
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• v.16 no.2
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• pp.121-125
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• 2012

Gitelman syndrome is an autosomal recessive renal tubular disorder characterized by hypokalemic metabolic alkalosis, and it is distinguished from Batter syndrome by hypomagnesemia and hypocalciuria. This disorder is caused by mutation in SLC12A3 gene which encodes thiazide-sensitive $Na^+-Cl^-$cotransporter (NCCT) which is expressed in the apical membrane of cells, lining distal convoluted tubule. A 8-year old boy who presented with Rolandic epilepsy, and horseshoe kidney accidentally showed clinical features of metabolic alkalosis, hypokalemia, hypocalciuria without hypomagnesemia. So we identified a heterozygote mutation and an abnormal splicing in the SLC12A3 gene, encoding NCCT. The mutation was detected in the exon 15 and 22 of SLC12A3 gene.

• Journal of Chest Surgery
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• v.34 no.11
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• pp.831-842
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• 2001

Background: Patients with cardiac diseases who have structural defects in their heart bring about metabolic insult such as preoperative acid-base imbalance. Cardiac operation requires many nonphysiologic procedures such as extracorporeal circulation, hypothermia, and hemodilution. We studied the acid-base status of surgical heart diseases pre-operatively, during extracorporeal circulation, and post-operatively and researched the treatment indications of acid-base disturbances. Material and Method: From January 1997 to May 1999, fifty two cases of open heart surgery were carried out under extracorporeal circulation, which divided into a set of pediatric and adult groups, congenital and acquired groups, non-cyanotic and cyanotic groups, The $\alpha$ -stat arterial blood gas analysis was done in each group during the preoperative period, during the operation with extracorporeal circulation, and during the postoperative period. Result: Before surgery, all patients present metabolic acidosis, PaO2 was low in adult group and acquired group and compensatory respiratory alkalosis was noted in cyanotic group. During extracorporeal circulation, adult group revealed alkalosis and normal in acquired group. Pediatric group presents low Pa$CO_2$, metabolic acidosis and respiratory alkalosis. Congenital group and non-cyanotic group showed non-compensatory alkalosis trend and non-compensatory respiratory acidosis were observed in cyanotic group during extracorporeal circulation. Postoperative acid-base status of adult group was recovered to normal and the standard bicarbonate was increased in the acquired group. All of the pediatric, congenital non-cyanotic, and cyanotic groups revealed the lack of buffer base.

• Annals of Clinical Neurophysiology
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• v.3 no.1
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• pp.50-52
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• 2001

Licorice is widely used as a Chinese(herbal) medicine. The glycyrrhizin, a main ingredient of the natural licorice, has a potent mineralocorticoid effect which may cause severe hypokalemia and muscle paralysis. We present a 60-year-old woman, who had been ingesting one or two spoonful of licorice powder daily for about one year, developed acute flaccid quadriparesis with high levels of serum muscle enzymes and the typical features of mineralocorticoid excess such as severe hypokalemia and metabolic alkalosis. Both plasma renin activity and serum aldosterone level were below the normal values. This case indicates that licorice-induced hypokalemic myopathy should be considered in the differential diagnosis of a patient with acute quadriparesis and hypokalemia.

• Journal of Yeungnam Medical Science
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• v.11 no.2
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• pp.388-397
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• 1994

Bartter's syndrome is a rare tubular disorder characterized by hypokalemic, hypochloremic metabolic alkalosis, hyperreninemic, hyperaldosteronism, hyporesponsiveness to pressor agents and juxtaglomerular apparatus hyperplasia. We report a case of Bartter's syndrome of a 5 month-old male infant with subdural hematoma who was confirmed by characteristic clinical, laboratory findings and kidney biopsy. In addition to a case report, brief review of related lituratures was done.

• Journal of Veterinary Clinics
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• v.15 no.2
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• pp.432-441
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• 1998

The electrocardiogram (ECG) and electrolytes were measured to obtain diagnostic data after experimental obstruction of duodenum in 8 dogs. Clinical signs of these appeared lower heart rate, temperatures respiration and blood pressure than signs of preoperation. In changes of electrolytes and acid-base balances, all dogs appeared hyponatremiai hypochloremia, metabolic alkalosis, and increased pHi HCO3, scot in blood, but potassium values appeared to increase in 3 cases fl-inc.) and to decrease in 5 cases (K- dec.) Two of three in K-inc. and three of five in K-dec. died at 60 hrs and 72 hrs after obstruction respectly. In changes of ECGI amplitudes of the K-inc cases appeared high in T wave and low in R wave, but amplitudes of the K-dec cases appeared low T waver 57 segment and high in R wave. Conduction times of the K-inc appeared the shorted PR intervals but the K-dec appeared the prolonged PR interval. The changes of these appeared apparently in lead II.

• Clinical and Experimental Pediatrics
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• v.50 no.12
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• pp.1231-1240
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• 2007

Purpose : Bartter syndrome is a renal tubular defect in electrolyte transport characterized by hypokalemia, metabolic alkalosis and other clinical signs and symptoms. The aims of this study were to analyze the clinical manifestations and the short- and long-term outcomes of Bartter syndrome. Methods : We retrospectively reviewed clinical history, laboratory finding of blood and urine, renal ultrasonography, and hearing tests of five patients who were diagnosed and managed with Bartter syndrome at Asan Medical Center from April 1992 to May 2007. We also evaluated height and body weight periodically after institution of therapy. Results : All patients had poor oral intake, failure to thrive and polyuria. Three of them had maternal history of polyhydramnios and premature delivery. The mean age at diagnosis was 11.8 months. All children presented with hypokalemia, metabolic alkalosis, hyperreninemia. Their blood pressures were normal. One patient had nephrocalcinosis on renal ultrasonography and all of them had normal result in hearing tests. After treatment with indomethacin or other prostaglandin inhibitors and potassium supplementation,their clinical features improved with catch-up growth and improvement in the development during long-term follow-up. Conclusion : We emphasize that early diagnosis and proper treatment in patient with Bartter syndrome are related to better prognosis.