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

Abstract

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.

Bartter syndrome: Case report

“…The prognosis in individuals with BS is satisfactory after a therapeutic follow-up of at least 10 years, which does not exclude the onset of late manifestations of the disease, such as proteinuria and renal failure (QASBA et al, 2023).…”

“…It is characterized by significant metabolic alterations such as hypocalcemic metabolic alkalosis associated with hyperreninemic hyperaldosteronism in normotensive people, with juxtaglomerular hyperplasia seen on renal biopsy. There is no predilection for gender or race, and it is usually diagnosed in childhood or adolescence (Qasba et al, 2023).…”

“…Due to the rare and recent nature of this pathology, treatment options are still limited, and symptoms must be controlled, since there is no cure. The information provided by the literature on this syndrome is still scarce (Qasba et al, 2023). Therefore, the objective of this study is to report a case of a patient with a recent diagnosis of BS.…”

“…KONRAD et al, 2021;QASBA et al, 2023).It is also meritorious to pay attention to the conditions that simulate BS, i.e., pseudo-SBs. In this analysis, nephrotoxic agents, such as aminoglycosides, amphotericin B, and heavy metals, are associated with the BS phenotype.…”

“…Added to this knowledge are congenital chloride diarrhea and cystic fibrosis, both characterized, each in its own way, by the loss of sodium chloride. It is also part of the falsification of the diagnosis of BS in situations in which patients suffer from bulimia and in those who abuse diuretics(FULCHIERO et al, 2019;KONRAD et al, 2021;QASBA et al, 2023).…”