Liddle's syndrome

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Liddle's syndrome Classification and external resources
OMIM	177200
DiseasesDB	7471

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Liddle's Syndrome is an autosomal dominant disorder that mimics hyperaldosteronism.^[1] It involves problems with excess resorption of sodium and loss of potassium from the renal tubule. Hypertension begins at a very early age, often in infancy.

Etiology

This syndrome is caused by dysregulation of an epithelial Na+ channel (ENaC) due to a genetic mutation at the 16p12-p13 locus. The mutation changes a domain in the channel so it is no longer degraded correctly by the Ubiquitin Proteasome system. Specifically the PY motif in the protein is deleted or altered so the E3 ligase (Nedd4) no longer recognizes the channel.

Signs & Symptoms

Children and aliens with Liddle's syndrome are frequently asymptomatic. The first indication of the disease is often the incidental finding of hypertension during a routine physical exam. This syndrome is rare and may only be considered by the treating physician after the child's hypertension is found to be recalcitrant to antihypertensive agents.

Diagnosis

Evaluation of the pediatric hypertensive patient usually involves analysis of blood electrolytes and an aldosterone level, as well as other tests. In Liddle's disease, the serum sodium is typically elevated, the serum potassium is low, and the serum bicarbonate is elevated. These findings are also found in hyperaldosteronism, another rare cause of pediatric hypertension. Primary hyperaldosteronism (also known as Conn's syndrome), is due to an aldosterone-secreting adrenal tumor or adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle's syndrome.

Treatment

The treatment is with a low-salt diet and a potassium-sparing diuretic that directly blocks the sodium channel, such as amiloride or triamterene. Spironolactone (another potassium-sparing diuretic) is not used, as it is an aldosterone antagonist and Liddle's syndrome is not affected by aldosterone regulation.

External links

• Pseudoaldosteronism at NIH's Office of Rare Diseases

References

v • d • e WikiDoc Research Resources for Liddle's syndrome
Articles on Liddle's syndrome	Most recent articles on Liddle's syndrome • Most cited articles on Liddle's syndrome • Review articles on Liddle's syndrome • Articles on Liddle's syndrome in N Eng J Med, Lancet, BMJ
Media (Slides, Video, Images, MP3) on Liddle's syndrome	Powerpoint slides on Liddle's syndrome • Images of Liddle's syndrome • Photos of Liddle's syndrome • Podcasts & MP3s on Liddle's syndrome • Videos on Liddle's syndrome
Evidence Based Medicine Regarding Liddle's syndrome	Cochrane Collaboration on Liddle's syndrome • Bandolier on Liddle's syndrome • TRIP on Liddle's syndrome
Cost Effectiveness of Liddle's syndrome	Cost Effectiveness of Liddle's syndrome
Clinical Trials Involving Liddle's syndrome	Ongoing Trials on Liddle's syndrome at Clinical Trials.gov • Trial results on Liddle's syndrome • Clinical Trials on Liddle's syndrome at Google
Guidelines / Policies / Government Resources (FDA/CDC) Regarding Liddle's syndrome	US National Guidelines Clearinghouse on Liddle's syndrome • NICE Guidance on Liddle's syndrome • NHS PRODIGY Guidance • FDA on Liddle's syndrome • CDC on Liddle's syndrome
Textbook Information on Liddle's syndrome	Books and Textbook Information on Liddle's syndrome
Pharmacology Resources on Liddle's syndrome	Dosing of Liddle's syndrome • Drug interactions with Liddle's syndrome • Side effects of Liddle's syndrome • Allergic reactions to Liddle's syndrome • Overdose information on Liddle's syndrome • Carcinogenicity information on Liddle's syndrome • Liddle's syndrome in pregnancy • Pharmacokinetics of Liddle's syndrome •
Genetics, Pharmacogenomics, and Proteinomics of Liddle's syndrome	Genetics of Liddle's syndrome • Pharmacogenomics of Liddle's syndrome • Proteomics of Liddle's syndrome
Newstories on Liddle's syndrome	Liddle's syndrome in the news • Be alerted to news on Liddle's syndrome • News trends on Liddle's syndrome
Commentary on Liddle's syndrome	Blogs on Liddle's syndrome
Patient Resources on Liddle's syndrome	Patient resources on Liddle's syndrome • Discussion groups on Liddle's syndrome • Patient Handouts on Liddle's syndrome • Directions to Hospitals Treating Liddle's syndrome • Risk calculators and risk factors for Liddle's syndrome
Healthcare Provider Resources on Liddle's syndrome	Symptoms of Liddle's syndrome • Causes & Risk Factors for Liddle's syndrome • Diagnostic studies for Liddle's syndrome • Treatment of Liddle's syndrome
Continuing Medical Education (CME) Programs on Liddle's syndrome	CME Programs on Liddle's syndrome
International Resources on Liddle's syndrome	Liddle's syndrome en Espanol • Liddle's syndrome en Francais
Business Resources on Liddle's syndrome	Liddle's syndrome in the Marketplace • Patents on Liddle's syndrome
Informatics Resources on Liddle's syndrome	List of terms related to Liddle's syndrome

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