Evidence map›Paper›PMID 39816126›Full record

ArticleNarra J2024

Challenges in diagnosing and treating Liddle syndrome in resource-limited settings: A case report from Indonesia.

Nurhasan A Prabowo, Wachid Putranto, Risalina Myrtha, Tonang D Ardyanto, Coana S Gautama, Evi L Wulandari, Berty D Hermawati, Desy P Putri, Artika Ramadhani, Herlina K Dewi

Abstract readCase Reports
In one paragraph

Article in Narra J, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

10 authors.

Nurhasan A PrabowoDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Wachid PutrantoDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Risalina MyrthaDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Tonang D ArdyantoDoctoral Program of Medical Sciences, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Coana S GautamaDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Evi L WulandariDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Berty D HermawatiDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Desy P PutriDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Artika RamadhaniDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.
Herlina K DewiDepartment of Internal Medicine, Faculty of Medicine, Universitas Sebelas Maret, Surakarta, Indonesia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

HypertensionLiddle SyndromeAdultAntihypertensive AgentsFemaleHumansHypokalemiaIndonesiaResource-Limited SettingsAntihypertensive AgentschallengediagnosisgeneticLiddle syndrometreatment

Identifiers

PMID39816126
PMCPMC11731678

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.