Dataset Information

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.

SUBMITTER: Qasba RK

PROVIDER: S-EPMC10537044 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature

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

Qasba Rakhtan K RK Bucharles Anna Carolina Flumignan ACF Piccoli Maria Victoria Ferreira MVF Sharma Pranjal P Banga Akshat A Kamaraj Balakrishnan B Nawaz Faisal A FA Kumar Harshadayani Jagadish HJ Happy Mahika Afrin MA Qasba Ruman K RK Kogilathota Jagirdhar Gowthami Sai GS Essar Mohammad Yasir MY Garg Piyush P Reddy Shiva Teja ST Rama Kaanthi K Surani Salim S Kashyap Rahul R

Medicina (Kaunas, Lithuania) 20230911 9

<i>Background and Objectives</i>: 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. <i>Materials and Methods</i>: Case reports/series pub ...[more]

PMID: 37763757

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Project description:BackgroundPediatric pulmonary embolism is a rare yet potentially life-threatening condition, presenting significant diagnostic and therapeutic challenges owing to its nonspecific symptoms and diverse underlying risk factors. This systematic review aims to consolidate data from case series and case reports to provide a comprehensive overview of pediatric pulmonary embolism, focusing on clinical characteristics, diagnostic approaches, treatment strategies, and outcomes.MethodsThis systematic review was conducted in adherence to the Preferred Reporting Items for Systematic Reviews and Meta-analysis guidelines and the Cochrane Handbook for Systematic Reviews of Interventions, version 6.3. The study protocol was registered with PROSPERO (ID: CRD42024532471). We utilized the Covidence systematic review software for deduplication and screening of search results. The literature search was developed with a subject specialist and included Medical Subject Headings terms and free-text keywords such as "pulmonary embolism," "pediatric," and "case reports." Databases searched included PubMed, Scopus, Web of Science, and the Cochrane Library up to April 2024, limited to English-language publications. Reference lists of relevant articles were also reviewed.ResultsPulmonary embolism affected males and females with age ranging from 1 to 18 years. Common underlying conditions included malignancies (for example, Wilms tumor), chronic diseases (for example, nephrotic syndrome), and recent surgical interventions. Diagnostic practices primarily relied on computed tomography pulmonary angiography, supplemented by chest X-ray and ultrasound. Treatment typically involved anticoagulation therapy with unfractionated heparin and low-molecular-weight heparin, transitioning to oral anticoagulants for long-term management. Thrombolytic therapy was used in severe cases. Outcomes varied, with many patients recovering well, though complications such as recurrent embolism and pleural effusion were observed. Fatal cases underscored the critical need for early detection and prompt treatment.ConclusionThis systemic review underscores the rarity and complexity of pediatric pulmonary embolism, highlighting the necessity for increased clinical vigilance given its nonspecific presentation and diverse underlying risk factors. Accurate diagnosis, primarily via computed tomography pulmonary angiography, with the prompt initiation of anticoagulation therapy are essential for optimal outcomes. Despite favorable recovery rates for most patients, the potential for severe complications and fatalities reinforces the value of timely diagnosis and personalized management approaches. Further research is essential to refine diagnostic protocols, optimize treatment approaches, establish evidence-based guidelines, and improve long-term outcomes for children with pulmonary embolism.

Project description:Pervasive refusal syndrome (PRS) is a complex condition that affects young people leading to social withdrawal, inability or refusal to eat, drink, mobilise or speak. The affected individual regresses and is unable to self-care and quite characteristically will resist rehabilitation, worsen with praise or remain entirely passive. This systematic review was aimed at describing clinical features of PRS, current interventions and to summarise some of the nosological aspects of the condition. Without language restriction, an electronic search was conducted in Embase, PsychInfo, Medline, Cochrane library, and PubMed databases yielding 29 articles with a total of 79 cases. We performed a risk of assessment bias using an adapted Newcastle-Ottawa Scale and adhered to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. 124 articles were identified, of which 29 were included and these yielded 79 cases. Seventy-six percent of the studies had a low rate of risk of assessment bias (good quality). Our results show that PRS overlaps with several conditions, mainly affects young females aged 7-15 years and has a recovery rate of 78% if diagnosed and treated early but the duration of inpatient treatment may last up to 9.44 months (8.82 SD). The patients had multiple inter-dependent risks. The major predisposing factors included vulnerable premorbid personality and pre-existing mental disorder. Precipitating factors were stressors such as infection and traumatic experiences. Enmeshed parent-child relationship served as a maintaining factor. The themes of treatment approach are essentially rehabilitative: (1) working collaboratively with patient and family, (2) having access to multidisciplinary team, and (3) peer/group supervision. This study has systematically evaluated a large sample of patients with PRS to ascertain its clinical features and the core elements of its treatment. Its key treatment approach is a multi-modal rehabilitative strategy that is compassionate, transparent and inclusive.

Dataset Information

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

Publications

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

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