Liddle's syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Liddle's syndrome | |||
| image = [[File:Liddle.svg|alt=Diagram showing the mechanism of Liddle's syndrome]] | |||
| caption = Diagram showing the mechanism of Liddle's syndrome | |||
| synonyms = Pseudoaldosteronism | |||
| pronounce = | |||
| specialty = [[Nephrology]] | |||
| symptoms = [[Hypertension]], [[hypokalemia]], [[metabolic alkalosis]] | |||
| onset = Childhood or early adulthood | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] in the [[SCNN1B]] or [[SCNN1G]] genes | |||
| risks = Family history of the condition | |||
| diagnosis = [[Genetic testing]], [[blood pressure]] measurement, [[electrolyte]] levels | |||
| differential = [[Hyperaldosteronism]], [[Cushing's syndrome]], [[Gordon's syndrome]] | |||
| treatment = [[Amiloride]], [[triamterene]] | |||
| medication = [[Potassium-sparing diuretics]] | |||
| prognosis = Good with treatment | |||
| frequency = Rare | |||
| deaths = Rare, if untreated | |||
}} | |||
{{Short description|A rare genetic disorder affecting kidney function}} | {{Short description|A rare genetic disorder affecting kidney function}} | ||
'''Liddle's syndrome''' is a rare [[genetic disorder]] characterized by [[hypertension]] (high blood pressure) and [[hypokalemia]] (low blood potassium levels) due to a defect in the [[renal]] [[tubules]] of the [[kidney]]. It is an [[autosomal dominant]] condition, meaning that only one copy of the mutated gene is necessary for the disorder to be expressed. | '''Liddle's syndrome''' is a rare [[genetic disorder]] characterized by [[hypertension]] (high blood pressure) and [[hypokalemia]] (low blood potassium levels) due to a defect in the [[renal]] [[tubules]] of the [[kidney]]. It is an [[autosomal dominant]] condition, meaning that only one copy of the mutated gene is necessary for the disorder to be expressed. | ||
==Pathophysiology== | ==Pathophysiology== | ||
[[File:Autosomal dominant - en.svg|thumb | [[File:Autosomal dominant - en.svg|left|thumb|Diagram of autosomal dominant inheritance]] | ||
Liddle's syndrome is caused by mutations in the genes encoding the epithelial sodium channel (ENaC) subunits, which are located on the [[chromosome]] 16p12. These mutations lead to increased activity of the sodium channels in the [[collecting duct]]s of the kidney, resulting in excessive reabsorption of sodium and water, and increased excretion of potassium. This sodium retention leads to [[volume expansion]] and [[hypertension]]. | Liddle's syndrome is caused by mutations in the genes encoding the epithelial sodium channel (ENaC) subunits, which are located on the [[chromosome]] 16p12. These mutations lead to increased activity of the sodium channels in the [[collecting duct]]s of the kidney, resulting in excessive reabsorption of sodium and water, and increased excretion of potassium. This sodium retention leads to [[volume expansion]] and [[hypertension]]. | ||
==Clinical Features== | ==Clinical Features== | ||
Patients with Liddle's syndrome typically present with early-onset hypertension, often in childhood or early adulthood. The hypertension is often severe and resistant to standard antihypertensive treatments. Hypokalemia is another common feature, which can lead to muscle weakness, fatigue, and [[cardiac arrhythmias]]. | Patients with Liddle's syndrome typically present with early-onset hypertension, often in childhood or early adulthood. The hypertension is often severe and resistant to standard antihypertensive treatments. Hypokalemia is another common feature, which can lead to muscle weakness, fatigue, and [[cardiac arrhythmias]]. | ||
==Diagnosis== | ==Diagnosis== | ||
The diagnosis of Liddle's syndrome is based on clinical features, family history, and laboratory findings. Genetic testing can confirm the presence of mutations in the ENaC genes. Laboratory tests typically show low plasma renin activity and low [[aldosterone]] levels, despite the presence of hypertension. | The diagnosis of Liddle's syndrome is based on clinical features, family history, and laboratory findings. Genetic testing can confirm the presence of mutations in the ENaC genes. Laboratory tests typically show low plasma renin activity and low [[aldosterone]] levels, despite the presence of hypertension. | ||
==Treatment== | ==Treatment== | ||
The treatment of Liddle's syndrome involves the use of [[potassium-sparing diuretics]] such as [[amiloride]] or [[triamterene]], which directly inhibit the ENaC channels, thereby reducing sodium reabsorption and correcting the hypokalemia. Standard antihypertensive medications are often ineffective. | The treatment of Liddle's syndrome involves the use of [[potassium-sparing diuretics]] such as [[amiloride]] or [[triamterene]], which directly inhibit the ENaC channels, thereby reducing sodium reabsorption and correcting the hypokalemia. Standard antihypertensive medications are often ineffective. | ||
==Prognosis== | ==Prognosis== | ||
With appropriate treatment, individuals with Liddle's syndrome can manage their blood pressure and potassium levels effectively, reducing the risk of complications such as [[stroke]] and [[heart disease]]. | With appropriate treatment, individuals with Liddle's syndrome can manage their blood pressure and potassium levels effectively, reducing the risk of complications such as [[stroke]] and [[heart disease]]. | ||
==See also== | |||
== | |||
* [[Hypertension]] | * [[Hypertension]] | ||
* [[Hypokalemia]] | * [[Hypokalemia]] | ||
* [[Genetic disorders]] | * [[Genetic disorders]] | ||
* [[Renal physiology]] | * [[Renal physiology]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Kidney diseases]] | [[Category:Kidney diseases]] | ||
[[Category:Autosomal dominant disorders]] | [[Category:Autosomal dominant disorders]] | ||
Revision as of 00:44, 8 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD medical weight loss NYC and sleep center NYC
| Liddle's syndrome | |
|---|---|
| |
| Synonyms | Pseudoaldosteronism |
| Pronounce | |
| Specialty | Nephrology |
| Symptoms | Hypertension, hypokalemia, metabolic alkalosis |
| Complications | N/A |
| Onset | Childhood or early adulthood |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation in the SCNN1B or SCNN1G genes |
| Risks | Family history of the condition |
| Diagnosis | Genetic testing, blood pressure measurement, electrolyte levels |
| Differential diagnosis | Hyperaldosteronism, Cushing's syndrome, Gordon's syndrome |
| Prevention | N/A |
| Treatment | Amiloride, triamterene |
| Medication | Potassium-sparing diuretics |
| Prognosis | Good with treatment |
| Frequency | Rare |
| Deaths | Rare, if untreated |
A rare genetic disorder affecting kidney function
Liddle's syndrome is a rare genetic disorder characterized by hypertension (high blood pressure) and hypokalemia (low blood potassium levels) due to a defect in the renal tubules of the kidney. It is an autosomal dominant condition, meaning that only one copy of the mutated gene is necessary for the disorder to be expressed.
Pathophysiology
Liddle's syndrome is caused by mutations in the genes encoding the epithelial sodium channel (ENaC) subunits, which are located on the chromosome 16p12. These mutations lead to increased activity of the sodium channels in the collecting ducts of the kidney, resulting in excessive reabsorption of sodium and water, and increased excretion of potassium. This sodium retention leads to volume expansion and hypertension.
Clinical Features
Patients with Liddle's syndrome typically present with early-onset hypertension, often in childhood or early adulthood. The hypertension is often severe and resistant to standard antihypertensive treatments. Hypokalemia is another common feature, which can lead to muscle weakness, fatigue, and cardiac arrhythmias.
Diagnosis
The diagnosis of Liddle's syndrome is based on clinical features, family history, and laboratory findings. Genetic testing can confirm the presence of mutations in the ENaC genes. Laboratory tests typically show low plasma renin activity and low aldosterone levels, despite the presence of hypertension.
Treatment
The treatment of Liddle's syndrome involves the use of potassium-sparing diuretics such as amiloride or triamterene, which directly inhibit the ENaC channels, thereby reducing sodium reabsorption and correcting the hypokalemia. Standard antihypertensive medications are often ineffective.
Prognosis
With appropriate treatment, individuals with Liddle's syndrome can manage their blood pressure and potassium levels effectively, reducing the risk of complications such as stroke and heart disease.
