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Journal : Narra J

Insertion/deletion (I/D) polymorphisms of angiotensin-converting enzyme gene and their implications for susceptibility and severity of COVID-19: A systematic review and meta-analysis Fajar, Jonny K.; Tamara, Fredo; Putranto, Wachid; Prabowo, Nurhasan A.; Harapan, Harapan
Narra J Vol. 4 No. 3 (2024): December 2024
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narra.v4i3.727

Abstract

The insertion or deletion polymorphisms of the angiotensin-converting enzyme gene (ACE I/D) have been the subject of significant research related to coronavirus disease 2019 (COVID-19). Despite this, the findings have remained uncertain and debatable. The aim of this study was to determine the associations between the ACE I/D polymorphisms and the susceptibility as well as the severity of COVID-19. A meta-analysis study (PROSPERO: CRD42022384562) was conducted by searching the articles published on PubMed, Scopus, and Embase as of May 15, 2023. Information regarding the impact of ACE I/D variant on the susceptibility to COVID-19 and its severity was collected and analyzed utilizing the Mantel-Haenszel method with a random effects model or fixed effects model, depending on the presence or absence of heterogeneity. Out of 3,335 articles, 21 articles were included, of which 13 investigated the association between ACE I/D and the risk of COVID-19 infection and 18 of them examined its influence on disease severity. The D allele of ACE increased risk of COVID-19 infection (OR: 1.41; 95%CI: 1.08–1.85; p-Egger: 0.0676; p-Heterogeneity: <0.001; p=0.0120), while ACE I allele (OR: 0.71; 95%CI: 0.54–0.93; p-Egger: 0.0676; p-Heterogeneity: <0.001; p=0.012) and II genotype (OR: 0.55; 95%CI: 0.34–0.87; p-Egger: 0.200; p-Heterogeneity: <0.001; p=0.011) decreased the risk of infection. Additionally, there was a notable association between the ACE ID genotype and an elevated likelihood of experiencing severe COVID-19 within the Asian population (OR: 1.46; 95%CI: 1.15–1.84; p-Egger: 0.092; p-Heterogeneity: 0.116; p=0.002). The presence of ACE I/D polymorphisms significantly influences the likelihood of being susceptible to and experiencing the severity of COVID-19.
Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia Prabowo, Nurhasan A.; Putranto, Wachid; Myrtha, Risalina; Ardyanto, Tonang D.; Gautama, Coana S.; Wulandari, Evi L.; Hermawati, Berty D.; Putri, Desy P.; Ramadhani, Artika; Dewi, Herlina K.
Narra J Vol. 4 No. 3 (2024): December 2024
Publisher : Narra Sains Indonesia

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.52225/narra.v4i3.1000

Abstract

Liddle syndrome, a rare form of monogenic hypertension, poses significant diagnostic and therapeutic challenges due to its phenotypic variability and the need for genetic testing. The rarity of the condition, coupled with the limited availability of first-line treatments such as epithelial sodium channel (ENaC) blockers, makes this case report particularly urgent and novel, highlighting alternative management strategies in resource-limited settings. The aim of this case report was to present the diagnostic challenges, therapeutic strategies, and clinical outcomes of a patient with Liddle syndrome who did not have access to ENaC blockers, emphasizing the importance of early recognition and personalized treatment. A 35-year-old female presented with resistant hypertension (190/100 mmHg) and bilateral limb weakness. Laboratory results revealed persistent hypokalemia, hypernatremia, and metabolic alkalosis. Low aldosterone levels, alongside clinical and family history, led to the diagnosis of Liddle syndrome. Genetic testing was not conducted due to resource limitations, and ENaC blockers were unavailable. The patients were managed with a combination of alternative antihypertensive agents, potassium supplementation, and a low-sodium diet. Although this approach led to modest improvements in blood pressure and motor strength, persistent hypokalemia and hypernatremia underscored the suboptimal control of the syndrome's underlying pathophysiology in the absence of ENaC blockers. This case highlights the challenges faced in resource-limited settings and the need for innovative strategies to manage rare conditions like Liddle syndrome. Liddle syndrome's diagnostic and therapeutic challenges underscore the critical importance of early recognition and access to targeted therapies. In the absence of ENaC blockers, alternative treatment strategies can provide some benefit, but they often fall short of optimal management. This case emphasizes the need for enhanced clinical awareness, improved access to genetic testing, and the development of personalized treatment approaches to achieve better patient outcomes.