Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen

Yang, Xuejun; Zhang, Gaofu; Wang, Mo; Yang, Haiping; Li, Qiu

doi:10.3389/fped.2018.00153

Cited by 9 publications

(6 citation statements)

References 24 publications

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“…For the included case series ( Supplementary Figure S2 ), the quality assessment of the included studies identified two studies [ 59 , 61 ] as high quality, six studies [ 58 , 62 , 63 , 64 , 65 , 66 ] as medium quality, and one study [ 60 ] as low quality. Only five [ 59 , 61 , 62 , 64 , 66 ] studies gave clear criteria for inclusion in the case series.…”

Section: Resultsmentioning

confidence: 99%

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Qasba,

Bucharles,

Piccoli

et al. 2023

Medicina

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Background and Objectives: Bartter syndrome (BS) is a rare group of autosomal-recessive disorders that usually presents with hypokalemic metabolic alkalosis, occasionally with hyponatremia and hypochloremia. The clinical presentation of BS is heterogeneous, with a wide variety of genetic variants. The aim of this systematic review was to examine the available literature and provide an overview of the case reports and case series on BS. Materials and Methods: Case reports/series published from April 2012 to April 2022 were searched through Pubmed, JSTOR, Cochrane, ScienceDirect, and DOAJ. Subsequently, the information was extracted in order to characterize the clinical presentation, laboratory results, treatment options, and follow-up of the patients with BS. Results: Overall, 118 patients, 48 case reports, and 9 case series (n = 70) were identified. Out of these, the majority of patients were male (n = 68). A total of 21 patients were born from consanguineous marriages. Most cases were reported from Asia (73.72%) and Europe (15.25%). In total, 100 BS patients displayed the genetic variants, with most of these being reported as Type III (n = 59), followed by Type II (n = 19), Type I (n = 14), Type IV (n = 7), and only 1 as Type V. The most common symptoms included polyuria, polydipsia, vomiting, and dehydration. Some of the commonly used treatments were indomethacin, potassium chloride supplements, and spironolactone. The length of the follow-up time varied from 1 month to 14 years. Conclusions: Our systematic review was able to summarize the clinical characteristics, presentation, and treatment plans of BS patients. The findings from this review can be effectively applied in the diagnosis and patient management of individuals with BS, rendering it a valuable resource for nephrologists in their routine clinical practice.

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Section: Resultsmentioning

confidence: 99%

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Qasba,

Bucharles,

Piccoli

et al. 2023

Medicina

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“…El tratamiento con AINES se asocia con disminución de las concentraciones de renina e incremento del potasio sérico, mejor poliuria e hipercalciuria pero sin revertir la nefrocalcinosis. 18 En pacientes con hipopotasemia persistente se han observado efectos favorables a corto plazo con los inhibidores de la enzima corvertidora de angiotensina (IECA), a pesar del tratamiento con AINES y complementos con potasio, 19 así como utilidad en pacientes con proteinuria y la indicación de ahorradores de potasio, con efectos transitorios por lo que su prescripción es motivo de controversia. 19 El pronóstico a largo plazo de estos pacientes con diagnóstico y tratamiento oportuno es bueno.…”

Section: Síndrome De Bartter Antenatalunclassified

Síndrome de Bartter neonatal en un paciente prematuro. Reporte de caso y revisión narrativa de la bibliografía

Cuitiva

Muriel²

2021

Acta Pediatr Mex

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ANTECDENTES: El síndrome de Bartter es una tubulopatía que afecta el transporte hidroelectrolítico; su prevalencia es de un caso por cada millón de habitantes. Se han descrito cinco subtipos de característica autosómica recesiva y un subtipo autosómico dominante. Del total de estos, cuatro subtipos son de presentación antenatal, con característica sobresaliente de poliuria que genera polihidramnios, prematurez y, en el periodo neonatal, alteraciones hidroelectrolíticas que llevan a lesión renal y alteraciones neurológicas.CASO CLÍNICO: Recién nacido, producto del segundo embarazo, madre de 22 años que inició con aumento importante del perímetro abdominal hacia las 12 semanas de gestación. Se optó por una conducta expectante hasta la semana 23 en la que se estableció el diagnóstico de polihidramnios severo, sin reporte de alteración estructural fetal. Se sospechó síndrome de Bartter que se confirmó con los estudios correspondientes. Se trató con ibuprofeno y la respuesta fue satisfactoriaCONCLUSIÓN: La ausencia de identificación de esta enfermedad, junto con el inadecuado tratamiento hidroelectrolítico de estos pacientes conducen a cuadros de deshidratación y alteraciones hidroelectrolíticas severas que pueden desencadenar insuficiencia renal, algunos subtipos de sordera neurosensorial, alteraciones en el neurodesarrollo y muerte.

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“…Reduced channel surface expression can be the consequence of altered synthesis, defective folding, reduced stability and trafficking to the plasma membrane, or increased degradation (Andrini et al, 2015). The manifestation and prognosis of BS depend on the mutation types, and more severe mutations are often associated with younger age at diagnosis, lower serum chloride concentration, and higher urine calcium excretion rate (Seys et al, 2017;Cheng et al, 2017;Yang et al, 2018).…”

Section: Introductionmentioning

confidence: 99%

“…Due to the lack of ClC-Kb channel activators, the pharmacotherapy of BS is based on symptoms relief with limited benefit for patients, poor adherence to medication, and side effects (Imbrici et al, 2016a). As such, BS affected patients are treated with cyclooxygenase inhibitors such as indomethacin to reduce elevated PGE2 levels, potassium and magnesium supplements, and potassium-sparing diuretics to normalize electrolyte balance, and angiotensin-converting enzyme inhibitors or angiotensin receptor blockers to counteract high angiotensin II plasma levels and proteinuria (Alhammadi et al, 2014;Zieg et al, 2016;Yang et al, 2018;Kleta and Bockenhauer, 2018). The possibility to target BS mutations with specific molecular defect with ClC-K channels modulators would be appealing in the perspective to ensure a specific and safer therapy to BS patients (Imbrici et al, 2017b).…”

Section: Introductionmentioning

confidence: 99%

Functional Study of Novel Bartter’s Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine

et al. 2020

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Type III and IV Bartter syndromes (BS) are rare kidney tubulopathies caused by loss-offunction mutations in the CLCNKB and BSND genes coding respectively for the ClC-Kb chloride channels and accessory subunit barttin. ClC-K channels are expressed in the Henle's loop, distal convoluted tubule, and cortical collecting ducts of the kidney and contribute to chloride absorption and urine concentration. In our Italian cohort, we identified two new mutations in CLCNKB, G167V and G289R, in children affected by BS and previously reported genetic variants, A242E, a chimeric gene and the deletion of the whole CLCNKB. All the patients had hypokalemia and metabolic alkalosis, increased serum renin and aldosterone levels and were treated with a symptomatic therapy. In order to define the molecular mechanisms responsible for BS, we co-expressed ClC-Kb wild type and channels with point mutations with barttin in HEK 293 cells and characterized chloride currents through the patch-clamp technique. In addition, we attempted to revert the functional defect caused by BS mutations through barttin overexpression. G167V and A242E channels showed a drastic current reduction compared to wild type, likely suggesting compromised expression of mutant channels at the plasma membrane. Conversely, G289R channel was similar to wild type raising the doubt that an additional mutation in another gene or other mechanisms could account for the clinical phenotype. Interestingly, increasing ClC-K/barttin ratio augmented G167V and A242E mutants' chloride current amplitudes towards wild type levels. These results confirm a genotype-phenotype correlation in BS and represent a preliminary proof of concept that molecules functioning as molecular chaperones can restore channel function in expression-defective ClC-Kb mutants.

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Bartter Syndrome Type 3: Phenotype-Genotype Correlation and Favorable Response to Ibuprofen

Cited by 9 publications

References 24 publications

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Bartter Syndrome: A Systematic Review of Case Reports and Case Series

Síndrome de Bartter neonatal en un paciente prematuro. Reporte de caso y revisión narrativa de la bibliografía

Functional Study of Novel Bartter’s Syndrome Mutations in ClC-Kb and Rescue by the Accessory Subunit Barttin Toward Personalized Medicine

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