Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review

Awadalla, Michael S.; Patwardhan, Manasi; Alsamsam, Adham; Imran, Nashat

doi:10.1155/2017/6279460

Cited by 8 publications

(7 citation statements)

References 9 publications

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“…In most countries these drugs are commercialized only in association with thiazide or loop diuretic and the fixed doses could be a disadvantage in titrating therapy. Amiloride appears to be a safe and effective medication in pregnancy in reaching optimal blood pressure values and normal kalemia [ 42 , 50 ]. Neither hypertension nor hypokalemia improve under treatment with spironolactone (since activation of the mineralocorticoid receptor is not implicated in Na + reabsorption) and this might represent an additional clinical criterion to suspect Liddle syndrome [ 91 ].…”

Section: Liddle Syndromementioning

confidence: 99%

Liddle Syndrome: Review of the Literature and Description of a New Case

Tetti

Monticone

Burrello

et al. 2018

IJMS

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Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na+ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The majority of the substitutions cause an increased expression of the channel at the distal nephron apical membrane, with subsequent enhanced renal sodium reabsorption. The most common clinical presentation of the disease is early onset hypertension, hypokalemia, metabolic alkalosis, suppressed plasma renin activity and low plasma aldosterone. Consequently, treatment of Liddle syndrome is based on the administration of ENaC blockers, amiloride and triamterene. Herein, we discuss the genetic basis, clinical presentation, diagnosis and treatment of Liddle syndrome. Finally, we report a new case in an Italian family, caused by a SCNN1B p.Pro618Leu substitution.

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Section: Liddle Syndromementioning

confidence: 99%

Liddle Syndrome: Review of the Literature and Description of a New Case

Tetti

Monticone

Burrello

et al. 2018

IJMS

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“…ENaC inhibitors can improve arterial hypertension and hypokalemia, because they reverse the pathological volume expansion and excessive sodium reabsorption. 30 In contrast, mineralocorticoid receptor antagonists are not helpful in the management of LS, because Na + reabsorption is independent of mineralocorticoid receptor activation. 31 Hence, the lack of response to mineralocorticoid receptor antagonists should increase suspicions about LS.…”

Section: Discussionmentioning

confidence: 99%

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension

Fan

Pan

Zhang

et al. 2020

American Journal of Hypertension

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BACKGROUND Liddle syndrome (LS), an autosomal dominant disorder, is a common monogenic hypertension in pediatrics. In this study, we reported a novel SCNN1G variant in a Chinese family with pediatric LS, and conduct a systematic review of epithelial sodium channel (ENaC)-gene-positive LS cases to conclude the clinical genetic features of LS in childhood. METHODS Next-generation sequencing and in silico analysis were performed in the proband to discover candidate variants. Sanger sequencing was used to identify the predicted likely pathogenic variant. LS patients in this family were treated with amiloride. The Medline database was searched to summarize clinical features of pediatric LS cases whose age at genetic diagnosis was not more than 18 years. RESULTS Genetic analysis identified a novel SCNN1G missense variant (c.1874C>T, p.Pro625Leu) in the proband with LS in childhood. In silico analysis revealed this heterozygous variant was highly conserved and deleterious. A total of 38 publications described pediatric LS associated with 25 pathogenic variants in SCNN1B and SCNN1G in 54 children. Despite the phenotypic heterogeneity, early-onset hypertension is the most common feature. All LS patients in this family or the reviewed cases showed significantly improvements in hypertension and hypokalemia after treatment with ENaC inhibitors. CONCLUSIONS This study identified a novel SCNN1G missense variant in a patient with pediatric LS, expanding the genetic spectrum of SCNN1G and demonstrating the PY motif of γ-ENaC as a potential mutant region. Early identification and specific management of LS in children and adolescents are important to prevent the development of hypertensive end-organ disease.

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Section: Discussionmentioning

confidence: 99%

“…15 The use of amiloride has been described in 21 human pregnancies in the management of primary hyperaldosteronism, resistant hypertension, Liddle, Bartter and Gitelman syndromes without adverse effect. 16,17 Significant limitations of this case report include the brief duration of exposure to eplerenone with respect to safety in pregnancy particularly in first trimester, and the temporary effect observed on blood pressure which allowed only an additional three weeks' gestation. The addition of alternative antihypertensives with greater experience in pregnancy may have had a similar or greater effect.…”

Section: Duration (Weeks) Outcomementioning

confidence: 97%

Eplerenone as a treatment for resistant hypertension in pregnancy

Gehlert

Morton

2019

Obstet Med

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Mineralocorticoid receptor antagonists are highly effective in the management of resistant hypertension and primary hyperaldosteronism. Recent studies demonstrate that mineralocorticoid receptor antagonists significantly reduce blood pressure, severity of obstructive sleep apnoea and arterial stiffness in patients with resistant hypertension and moderate–severe obstructive sleep apnoea. Eplerenone is a selective mineralocorticoid receptor antagonist that does not act as an androgen receptor blocker, thus reducing the risk of fetal anti-androgenic effects. Rat and rabbit studies demonstrated that when exposed to 30 times the equivalent therapeutic human dose, 100 mg/day, there were no teratogenic or demasculinisation effects. To date, the use of eplerenone has been reported in six human pregnancies in women with Gitelman syndrome, primary hyperaldosteronism and cardiac failure, in which no teratogenic effects were seen. Described here is a case of resistant hypertension associated with obstructive sleep apnoea in pregnancy, treated with eplerenone. The potential role of using eplerenone in pregnancy as treatment for resistant hypertension is discussed. Trial registration: Not applicable.

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Management of Liddle Syndrome in Pregnancy: A Case Report and Literature Review

Cited by 8 publications

References 9 publications

Liddle Syndrome: Review of the Literature and Description of a New Case

Liddle Syndrome: Review of the Literature and Description of a New Case

Pediatric Liddle Syndrome Caused by a Novel SCNN1G Variant in a Chinese Family and Characterized by Early-Onset Hypertension

Eplerenone as a treatment for resistant hypertension in pregnancy

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