Liddle's syndrome

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Liddle's syndrome
Diagram of the inheritance of the syndrome
SpecialtyNephrology

Liddle's syndrome, also called Liddle syndrome,

potassium-sparing diuretics (e.g. amiloride). It is extremely rare, with fewer than 30 pedigrees or isolated cases having been reported worldwide as of 2008.[2]

Signs and symptoms

Children with Liddle syndrome are frequently asymptomatic. The first indication of the syndrome often is the incidental finding of hypertension during a routine physical exam. Because this syndrome is rare, it may only be considered by the treating physician after the child's hypertension does not respond to medications for lowering blood pressure.[citation needed]

Adults could present with

shortness of breath, constipation/abdominal distention or exercise intolerance). Additionally, long-standing hypertension could become symptomatic.[3]

Cause

This syndrome is caused by dysregulation of the epithelial

extracellular volume.[5]

Liddle syndrome is inherited in an autosomal dominant fashion.

Diagnosis

Evaluation of a child with persistent high blood pressure 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 reduced,

adrenal hyperplasia. Aldosterone levels are high in hyperaldosteronism, whereas they are low to normal in Liddle syndrome.[5]

A genetic study of the ENaC sequences can be requested to detect mutations (deletions, insertions, missense mutations) and get a diagnosis.[7]

Treatment

The treatment is a potassium-sparing diuretic, such as amiloride, that directly blocks the sodium channel.[8] Potassium-sparing diuretics that are effective for this purpose include amiloride and triamterene; spironolactone is not effective because it acts by regulating aldosterone and Liddle syndrome does not respond to this regulation. Amiloride is the only treatment option that is safe in pregnancy.[9] Medical treatment usually corrects both the hypertension and the hypokalemia, and as a result these patients may not require any potassium replacement therapy.[citation needed]

Liddle syndrome resolves completely after kidney transplantation.[10]

History

It is named after Dr.

endocrinologist at Vanderbilt University, who described it in 1963.[11] Liddle described the syndrome in a family of people exemplifying a heritable, autosomal dominant hypertension with low potassium, renin, and aldosterone.[10]

See also

References

  1. ^ a b Young, William. "Genetic disorders of the collecting tubule sodium channel: Liddle's syndrome and pseudohypoaldosteronism type 1". UpToDate.
  2. PMID 18711011
    .
  3. ^ "Liddle Syndrome". The Lecturio Medical Concept Library. Retrieved 5 August 2021.
  4. ^ "Epithelial sodium channel (ENaC) | Ion channels | IUPHAR/BPS Guide to PHARMACOLOGY". www.guidetopharmacology.org.
  5. ^
    PMID 31564964
    .
  6. ^ Brenner and Rector's The Kidney, 8th ed. CHAPTER 40 – Inherited Disorders of the Renal Tubule. Section on Liddle Syndrome. Accessed via MDConsult.
  7. ^ "Liddle Syndrome". Fact File. British Hypertension Society. February 2006. Archived from the original (doc) on 2011-07-25.
  8. PMID 28449833
    .
  9. PMID 28396810
    .
  10. ^ a b Ingelfinger, Julie R (2018). "Monogenic and Polygenic Contribution to Hypertension". In Flynn, JT (ed.). Pediatric Hypertension. Springer.
  11. ^ Liddle GW, Bledose T and Coppage Jr WS. A familial renal disorder simulating primary aldosteronism with negligible aldosterone secretion (1963). Trans. Assoc. Am. Physicians, 76, 199–213.

External links

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