• Childhood Kidney Diseases
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• v.9 no.2
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• pp.255-262
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• 2005

Battler and Bartter-like syndromes, which include classic Bartter syndrome(type III), neonatat Bartter syndrome(type I, II or IV) and Gitelman syndrome, are autosomal - recessively inherited renal tubular disorders characterized b)r hypokalemic metabolic alkalosis, salt wasting and normal to low blood pressure. Neonatal Bartter syndrome is characterized by intrauterine polyhydramnios, premature delivery, life-threatening episodes of fever and dehydration, subsequent failure to thrive, and severe hypercalciuria with nephrocalcinosis and osteopenia. It is caused by mutations in NKCC2(type I), ROMK(type II) or BSND(type IV) genes. If diagnosed and treated early, the progression to renal failure can be prevented and catch-up growth and normal development are achieved. We report here a 6 month-old infant with neonatal Bartter syndrome who presented with hypokalemic metabolic alkalosis, polyhydramnios and premature delivery, persistent high fever and dehydration, failure to thrive, hypercalciuria, and nephrocalcinosis. He received indomethacin and potassium chloride per os and show ed catch-up growth and normal developmental profile at 19 months of age. (J Korean Soc Pediatr Nephrol 2005;9:255-262)

• Clinical and Experimental Pediatrics
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• v.45 no.11
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• pp.1430-1434
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• 2002

We report a 3-month old boy admitted to our hospital with Bartter's syndrome like symptoms and laboratory findings, which were vomiting, failure to thrive, hypochloremic and hypokalemic metabolic alkalosis associated with hyperreninemia, hyperaldosteronism and normal blood pressure. However, the urine chloride level was low. Hypertrophic pyloric stenosis was diagnosed through abdominal ultrasonography. Fredet-Ramstedt operation was done after electrolyte correction. After surgery he made a good recovery and gained body weight. The electrolytes maintained within a normal limit without any potassium supplementations after surgery. Differential diagnosis from Bartter's syndrome was made on the basis of a decrease in urine chloride and the non-necessity for potassium supplementation after surgery. It is relatively rare for hypertrophic pyloric stenosis to induce pseudo-Bartter's syndrome. The importance of considering this diagnosis in such cases is discussed.

• 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.

• Clinical and Experimental Pediatrics
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• v.58 no.4
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• pp.148-153
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• 2015

The calcium sensing receptor (CaSR) plays an important role in calcium homeostasis. Activating mutations of CaSR cause autosomal dominant hypocalcemia by affecting parathyroid hormone secretion in parathyroid gland and calcium resorption in kidney. They can also cause a type 5 Bartter syndrome by inhibiting the apical potassium channel in the thick ascending limb of the loop of Henle in the kidney. This study presents a patient who had autosomal dominant hypocalcemia with Bartter syndrome due to an activating mutation Y829C in the transmembrane domain of the CaSR. Symptoms of hypocalcemia occurred 12 days after birth and medication was started immediately. Medullary nephrocalcinosis and basal ganglia calcification were found at 7 years old and at 17 years old. Three hypercalcemic episodes occurred, one at 14 years old and two at 17 years old. The Bartter syndrome was not severe while the serum calcium concentration was controlled, but during hypercalcemic periods, the symptoms of Bartter syndrome were aggravated.

• Journal of Yeungnam Medical Science
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• v.31 no.1
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• pp.21-24
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• 2014

Clinical presentation of Bartter syndrome is similar to surrepitious vomiting or use of diuretics. Therefore, precise differential diagnosis of Bartter syndrome is crucial. We report a case of medullary nephrocalcinosis (MNC) induced by furosemide mimicking Bartter syndrome. A 55-year-old female patient visited our hospital with renal dysfunction on basis of hypokalemia and metabolic alkalosis. She had no history of hypertension or drug use except allopurinol and atorvastatin. She did not complain of nausea or vomiting on presentation and the serum magnesium level was normal. We performed ultrasonography, that showed MNC. For these reasons, we suspected Bartter syndrome and corrected the electrolyte imbalance. During outpatient follow up, we found that the patient had been taking 400 mg of furosemide daily for 30 years. We could diagnose furosemide induced MNC, and recommended to her to reduce the amount of furosemide.

• 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.

• Childhood Kidney Diseases
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• v.6 no.2
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• pp.259-265
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• 2002

Bartter syndrome is a rare disorder characterized by the association of hypokalemic hypochloremic metabolic alkalosis, hyperreninemia, hyperaldosteronemia, short stature and nephrocalcinosis. This disorder presents with hyperplasia of juxtaglomerular apparatus on renal biopsy. We experienced a case of late-onset Bartter syndrome with nephrocalcinosis in a 9-year-old boy, whose chief pictures were muscle weakness, short stature, persistent sterile pyuria and microscopic hematuria. We report this case with a brief review of related literatures.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.15 no.1
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• pp.45-49
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• 2019

Bartter syndrome is an inherited renal tubular disorder characterized by hypokalemia, hypochloremic metabolic alkalosis, hyperreninemia, hyperprostaglandinism, and normal blood pressure. Bartter syndrome is classified by neonatal and classic type. Clinical manifestation of Bartter syndrome considered in dental treatment include tendency to dehydration, vomiting and erosion, attrition and abrasion of the teeth. A 2-year-4 month old boy with Bartter syndrome type III was referred to the Seoul National University Dental Hospital for dental evaluation and treatment. He showed hypokalemic hypochloremic metabolic alkalosis and had been treated with indomethacin and potassium chloride. He had hypocalcified teeth with or without multisurface caries lesions in all dentition and the erosion of maxillary teeth was detected. Dental procedure under general anesthesia was scheduled due to multiple caries and his medical condition. The dental procedure was successfully performed. This case suggests that electrolyte imbalances need to be treated prior to dental treatment and complete coverage restoration is necessary to protect the eroded teeth. An appropriate management plan for the patients with Bartter syndrome should include considerations of the need for close interaction with the pediatrician for pre- and post-operative care. General anesthesia may be recommendable to manage the patients having multiple caries with Bartter syndrome.

• 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.

• Clinical and Experimental Pediatrics
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• v.59 no.sup1
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• pp.103-106
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• 2016

Bartter syndrome (BS) is an inherited renal tubular disorder characterized by low or normal blood pressure, hypokalemic metabolic alkalosis, and hyperreninemic hyperaldosteronism. Type III BS is caused by loss-of-function mutations in CLCNKB encoding basolateral ClC-Kb. The clinical phenotype of patients with CLCNKB mutations has been known to be highly variable, and cases that are difficult to categorize as type III BS or other hereditary tubulopathies, such as Gitelman syndrome, have been rarely reported. We report a case of a 10-year-old Korean boy with atypical clinical findings caused by a novel CLCNKB mutation. The boy showed intermittent muscle cramps with laboratory findings of hypokalemia, severe hypomagnesemia, and nephrocalcinosis. These findings were not fully compatible with those observed in cases of BS or Gitelman syndrome. The CLCNKB mutation analysis revealed a heterozygous c.139G>A transition in exon 13 [p.Gly(GGG)465Glu(GAG)]. This change is not a known mutation; however, the clinical findings and in silico prediction results indicated that it is the underlying cause of his presentation.