A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism
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Yueping Jin
Abstract
Objectives
Liddle syndrome is an autosomal dominant hereditary disease caused by a single gene mutation. Typical clinical manifestations are early-onset hypertension and hypokalemia.
Case presentation
This report describes a 17-year-old male with hypertension and hypokalemia. We performed Captopril inhibition and postural stimulation test to diagnose and type primary aldosteronism. The plasma renin activity was consistently low, and aldosterone levels were high, hence the patient was initially diagnosed with primary aldosteronism. After genetic analysis, a diagnosis of Liddle syndrome was made due to the presence of a p. Pro617Ser mutation in the SCNN1B gene. After diagnosis, the patient was prescribed one tablet of amiloride twice a day. The patient’s blood pressure (average in 120–135/70–80 mmHg) and serum potassium levels (3.6–4.0 mmol/L) returned to normal and was well-controlled after treatment.
Conclusions
Adolescent hypertension may be secondary to underlying medical conditions affecting the heart, kidneys, or endocrine system or primary with no known underlying disease process. Although in an adolescent with hypertension, hyperaldosteronism, and low plasma renin activity, the initial diagnosis suggested primary hyperaldosteronism, the failure of aldosterone receptor antagonist’s therapy led to the diagnosis of Liddle syndrome. Increased aldosterone levels should always be evaluated with caution before a definitive diagnosis to prevent misdiagnosis. Genetic testing is the gold standard for the diagnosis of Liddle syndrome. Early diagnosis and early precise treatment can restore normal blood pressure and prevent severe sequelae of chronic hypertension in patients.
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Research funding: None declared.
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Author contributions: YPJ performed experiments, analyzed data, and wrote the manuscript; WQ designed experiments; JPY conceived and supervised the study, designed experiments, analyzed data, and made manuscript revisions. All authors reviewed the results. All authors have accepted responsibility for the entire content of this manuscript and approved its submission.
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Competing interests: Authors state no conflict of interest.
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Informed consent: Informed consent was obtained from all individuals included in this study.
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Ethical approval: This study has been approved by the Ethics Committee of Huzhou Central Hospital.
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Artikel in diesem Heft
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- Original Articles
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- Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
- Comparative characteristics of developing morphofunctional features of schoolchildren from different climatic and geographical regions
- Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis
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- Thiamine status during treatment of diabetic ketoacidosis in children – tertiary care centre experience
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- Short Communication
- Diagnosis of adrenal insufficiency in children: a survey among pediatric endocrinologists in North America
- Case Reports
- Pediatric growth hormone and prolactin-secreting tumor associated with an AIP mutation and a MEN1 variant of uncertain significance
- Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
- Hyperinsulinism–hyperammonemia syndrome in two Peruvian children with refractory epilepsy
- A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism
- Adolescents with type 1 diabetes vs. hybrid closed loop systems: a case series of patients’ behaviour that challenges the algorithm.
Artikel in diesem Heft
- Frontmatter
- Review
- One half-century of advances in the evaluation and management of disorders of bone and mineral metabolism in children and adolescents
- Original Articles
- Safety and user experience with off-label use of a flash glucose monitor (FreeStyle Libre® 1) among very young children with type 1 diabetes mellitus
- Sonic hedgehog N-terminal level correlates with adiponectin level and insulin resistance in adolescents
- Elevated amylase and lipase levels in patients with DKA followed in the pediatric intensive care unit
- The relationship between alexithymia, health literacy, and diet quality in obese adolescents
- The role of the deficiency of vitamin B12 and folic acid on homocysteinemia in children with Turner syndrome
- Clinical spectrum and diagnostic challenges of vitamin D dependent rickets type 1A (VDDR1A) caused by CYP27B1 mutation in resource limited countries
- Comparative characteristics of developing morphofunctional features of schoolchildren from different climatic and geographical regions
- Leucine tolerance in children with MSUD is not correlated with plasma leucine levels at diagnosis
- Outcomes of children with severe diabetic ketoacidosis managed outside of a pediatric intensive care unit
- Thiamine status during treatment of diabetic ketoacidosis in children – tertiary care centre experience
- Premature adrenarche in Prader–Willi syndrome is associated with accelerated pre-pubertal growth and advanced bone age
- Short Communication
- Diagnosis of adrenal insufficiency in children: a survey among pediatric endocrinologists in North America
- Case Reports
- Pediatric growth hormone and prolactin-secreting tumor associated with an AIP mutation and a MEN1 variant of uncertain significance
- Two cases of MEGDHEL syndrome diagnosed with hyperammonemia
- Hyperinsulinism–hyperammonemia syndrome in two Peruvian children with refractory epilepsy
- A case report of a young boy with low renin and high aldosterone levels induced by Liddle syndrome who was previously misdiagnosed with primary aldosteronism
- Adolescents with type 1 diabetes vs. hybrid closed loop systems: a case series of patients’ behaviour that challenges the algorithm.
