Bartter's syndrome: A rare cause of seizures and quadriparesis

Verma, Rajesh; Qavi, Abdul; Pandey, Sushil; Bansod, Amrit

doi:10.4103/0028-3886.198190

Cited by 3 publications

(1 citation statement)

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“…The Supplementary Materials contain figures for the quality assessment of our included studies. For the case reports ( Supplementary Figure S1 ), most of the included studies described the patient characteristics clearly, including the clinical condition on presentation, except for Sobash et al [ 47 ], Verma et al [ 50 ], and Yaqub et al [ 55 ]. The assessment methods and the results were clearly described in all of the reports, except for Alasfour et al [ 15 ] and Raza et al [ 45 ].…”

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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Bartter Syndrome Unveiled: Unraveling the Masquerade of Neuroregression

Wander,

Mahesan,

Meena

et al. 2023

Indian J Pediatr

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Analysis of gene variants in the GASH/Sal model of epilepsy

et al. 2020

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Epilepsy is a complex neurological disorder characterized by sudden and recurrent seizures, which are caused by various factors, including genetic abnormalities. Several animal models of epilepsy mimic the different symptoms of this disorder. In particular, the genetic audiogenic seizure hamster from Salamanca (GASH/Sal) animals exhibit sound-induced seizures similar to the generalized tonic seizures observed in epileptic patients. However, the genetic alterations underlying the audiogenic seizure susceptibility of the GASH/Sal model remain unknown. In addition, gene variations in the GASH/Sal might have a close resemblance with those described in humans with epilepsy, which is a prerequisite for any new preclinical studies that target genetic abnormalities. Here, we performed whole exome sequencing (WES) in GASH/Sal animals and their corresponding controls to identify and characterize the mutational landscape of the GASH/Sal strain. After filtering the results, moderate-and high-impact variants were validated by Sanger sequencing, assessing the possible impact of the mutations by "in silico" reconstruction of the encoded proteins and analyzing their corresponding biological pathways. Lastly, we quantified gene expression levels by RT-qPCR. In the GASH/Sal model, WES showed the presence of 342 variations, in which 21 were classified as high-impact mutations. After a full bioinformatics analysis to highlight the high quality and reliable variants, the presence of 3 high-impact and 15 moderate-impact variants were identified. Gene expression analysis of the high-impact variants of Asb14 (ankyrin repeat and SOCS Box Containing 14), Msh3 (MutS Homolog 3) and Arh-gef38 (Rho Guanine Nucleotide Exchange Factor 38) genes showed a higher expression in the GASH/Sal than in control hamsters. In silico analysis of the functional consequences indicated that those mutations in the three encoded proteins would have severe functional alterations. By functional analysis of the variants, we detected 44 significantly enriched pathways, including the glutamatergic synapse pathway. The data show three high-impact mutations with a major impact on the function of the proteins encoded by these genes, although no mutation in these three genes has been associated with some type of epilepsy until now. Furthermore, GASH/Sal animals also showed gene variants associated with different types of epilepsy that has been extensively documented, as well as mutations in other genes that PLOS ONE PLOS ONE | https://doi.

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Bartter's syndrome: A rare cause of seizures and quadriparesis

Cited by 3 publications

References 0 publications

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

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

Bartter Syndrome Unveiled: Unraveling the Masquerade of Neuroregression

Analysis of gene variants in the GASH/Sal model of epilepsy

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