Liddle Syndrome

Classification according to ICD-10
I15.1	Hypertension as a result of other kidney diseases
ICD-10 online (WHO version 2019)

The Liddle's syndrome is a rare autosomal dominant kidney disease (pseudoaldosteronism, pseudohyperaldosteronism ). It's a functional tubulopathy ; it works like aldosterone . Liddle's syndrome causes a special type of arterial hypertension ( high blood pressure ); it is secondary hypertension . This form of hypertension is very rare. The syndrome was first described in 1964 by the American endocrinologist Grant Winder Liddle (1921-1989).

Tubular diseases are rare; they tend to lead to a reduction in tubular reabsorption with the symptom of polyuria . Liddle's syndrome has exactly the opposite effect, namely an increase in the tubular reabsorption rate with the symptom of oliguria or even a threatening anuria . Almost all diseases cause the affected organs to deteriorate in their function; Liddle's syndrome, however, causes a pathological improvement ( overactivity ) of the kidney tubules ( gain of function ). Renal insufficiency also does not occur because the glomerula are not affected. If the increased water reabsorption increases the cardiac output and thus the glomerular filtration, the GFR even increases .

root cause

The disease is based on a gene mutation of the subunits of the epithelial sodium channel ( ENaC ), which leads to a "gain-of-function" mutation of this renal epithelial sodium channel. Normally the synthesis, the membrane integration and disintegration as well as the breakdown of the sodium channel by endocytosis are in a constant steady state .

However, the mutation causes a change in a subunit on the cytosolic side of the sodium channel, which greatly reduces its breakdown. The result is an increased density of this channel in the membrane. The result is an excessively increased reabsorption of sodium in the kidneys. This increases the amount of blood in the circulatory system, which ultimately leads to hypertension . The increased sodium retention leads to a severe renal loss of potassium and, subsequently, to metabolic alkalosis .

therapy

Liddle's syndrome is antidiuretic ; so it reduces the diuresis . A drug used to reduce excess sodium in the blood and the associated high volume pressure is a diuretic with the active ingredient amiloride .

See also

• Antidiuretic hormone

Individual evidence

1. ↑ Alphabetical directory for the ICD-10-WHO version 2019, volume 3. German Institute for Medical Documentation and Information (DIMDI), Cologne 2019, p. 507.
2. ^ Roche Lexicon Medicine, 5th edition, Urban & Fischer, Munich / Jena 1984, ISBN 3-437-15156-8 , p. 1525.
3. ^ Roche Lexicon Medicine, 5th edition, Urban & Fischer, Munich / Jena 1984, ISBN 3-437-15156-8 , p. 1108.
4. ^ Maxim Zetkin , Herbert Schaldach : "Dictionary of Medicine", 15th edition, Ullstein-Mosby-Verlag, Berlin 1992, ISBN 3-86126-015-8 , ISBN 3-86126-018-2 , p. 1237.
5. ↑ Ulrich Kuhlmann, Joachim Böhler, Friedrich C. Luft , Mark Dominik Alscher et al. (Ed.): "Nephrologie", Thieme-Verlag, 6th edition, Stuttgart / New York 2015, ISBN 978-3-13-700206-2 , p. 272.
6. ↑ Günter Thiele (ed.): Handlexikon der Medizin , Urban & Schwarzenberg, Munich / Vienna / Baltimore no year, Volume 3 (LR), p. 1463.
7. ^ Pschyrembel (Medical Dictionary) , Verlag de Gruyter, 266th edition, Berlin / Boston 2014, ISBN 978-3-11-033997-0 , p. 1220.

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