Primary Molecular Disorders and Secondary Biological Adaptations in Bartter Syndrome

Deschênes, Georges; Fila, Marc

doi:10.4061/2011/396209

Cited by 14 publications

(12 citation statements)

References 69 publications

(92 reference statements)

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“…Electrolyte abnormalities similar to that of BS can be caused by chronic diuretic use, vomiting, and therapeutic drugs. Aminoglycosides, amphotericin B, prostaglandins, cisplatin, and heavy metals have been reported to be associated with Bartter-like syndrome [ 2 , 3 ]. Aminoglycoside antibiotics have also been implicated in the precipitation of renal Fanconi syndrome and distal renal tubular acidosis [ 4 – 6 ].…”

Section: Discussionmentioning

confidence: 99%

Unusual Complication of Multidrug Resistant Tuberculosis

Sharma¹,

Sahay²

2017

Case Reports in Nephrology

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Introduction Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. Case Report 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted. Vitamin D and serum PTH levels were within normal limits. Hypercalciuria was confirmed by urine calcium/creatinine ratio. Calcium, potassium, and magnesium supplementation was given and capreomycin was discontinued. Electrolytes normalized in two days after cessation of capreomycin with no further abnormalities on repeat investigations. Discussion Aminoglycosides can result in renal tubular dysfunction leading to Fanconi syndrome, Bartter syndrome, and distal tubular acidosis. Impaired mitochondrial function in the tubular cells has been hypothesized as the possible cause of these tubulopathies. Acquired Bartter-like syndrome phenotypically resembles autosomal dominant type 5 Bartter syndrome. Treatment consists of correction of electrolyte abnormalities, indomethacin, and potassium-sparing diuretics. Prompt diagnosis and treatment of severe dyselectrolytemia are warranted in patients on aminoglycoside therapy.

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Section: Discussionmentioning

confidence: 99%

Unusual Complication of Multidrug Resistant Tuberculosis

Sharma¹,

Sahay²

2017

Case Reports in Nephrology

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“…In physiological conditions, the reduction of intracellular chloride concentration at the level of macula densa cells at JGA indicates diminished filtration, resulting in activation of the TGF hence stimulating renin release and afferent arteriolar dilatation with hyperfiltration. 14 In patients with BS, reduced reabsorption of chloride occurs due to the genetic defects, and an increase in chloride delivery to the macula densa with an abnormal volume sensing ensues. Therefore, the control of filtration becomes uncoupled from volume status.…”

Section: 200 On 04-oct-2020mentioning

confidence: 99%

Bartter syndrome: causes, diagnosis, and treatment

Cunha¹,

Heilberg²

2018

IJNRD

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Bartter syndrome is an inherited renal tubular disorder caused by a defective salt reabsorption in the thick ascending limb of loop of Henle, resulting in salt wasting, hypokalemia, and metabolic alkalosis. Mutations of several genes encoding the transporters and channels involved in salt reabsorption in the thick ascending limb cause different types of Bartter syndrome. A poor phenotype–genotype relationship due to the interaction with other cotransporters and different degrees of compensation through alternative pathways is currently reported. However, phenotypic identification still remains the first step to guide the suspicion of Bartter syndrome. Given the rarity of the syndrome, and the lack of genetic characterization in most cases, limited clinical evidence for treatment is available and the therapy is based mainly on the comprehension of renal physiology and relies on the physician’s personal experiences. A better understanding of the mutated channels and transporters could possibly generate targets for specific treatment in the future, also encompassing drugs aiming to correct deficiencies in folding or plasma membrane expression of the mutated proteins.

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“…It also causes hypokalaemic metabolic alkalosis; however, it is associated with normal serum magnesium level and hypercalciuria; and also with impaired ability to concentrate urine, whereas this is preserved in GS 4 7…”

Section: Differential Diagnosismentioning

confidence: 99%

Management of a severe case of Gitelman syndrome with poor response to standard treatment

2016

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Gitelman syndrome is an autosomal recessive distal renal tubular disorder caused by defective sodium chloride transporters. Biochemically, it presents with hypokalaemic metabolic alkalosis, hypomagnesaemia and hypocalciuria. It is usually managed with oral potassium supplements and potassium-sparing diuretics. We report a case of a 28-year-old woman whose condition worsened during pregnancy; she became resistant to standard management after delivery of her second child. She was managed in a specialist metabolic clinic through a comprehensive approach including perseverance with oral potassium supplement, weekly intravenous potassium and magnesium infusion, correction of vitamin D level and the offering of appropriate dietary advice; this controlled the patient's symptoms and prevented repeated hospital admissions. In this case report, we illustrate a patient's presentation and diagnosis with Gitelman syndrome, discuss triggers of exacerbation, review the relevant literature in terms of differential diagnoses and provide practical advice on the management of difficult cases in a specialist clinic.

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Primary Molecular Disorders and Secondary Biological Adaptations in Bartter Syndrome

Cited by 14 publications

References 69 publications

Unusual Complication of Multidrug Resistant Tuberculosis

Unusual Complication of Multidrug Resistant Tuberculosis

Bartter syndrome: causes, diagnosis, and treatment

Management of a severe case of Gitelman syndrome with poor response to standard treatment

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