A vese ioncsatorna-defektusai okozta betegsegek

Translated title of the contribution: Diseases caused by ion channel defects in the kidney

G. Mikala, G. Lakner, G. Renczes, B. Gachalyi

Research output: Contribution to journalArticle

Abstract

The four most important inborn diseases that involve ion channel genes (channelopathies) and represent primarily as kidney diseases are summarized. Liddle's syndrome, an inherited form of hypertension is caused by defects in the β or γ subunit of the epithelial sodium channel that abolish the ability of these channels to inactivate. Patients with this disease present as renal pseudo-hyperaldosteronism: hypernatremia, hypokalaemia and hypertension. Since the etiology of the disease is hyperactivity of the epithelial sodium channel, treatment primarily consists of blockage of this channel by triamterene or amiloride. Pseudo-hypoaldosteronism type I is caused by the inactivation of the α or β subunit of the epithelial sodium channel. Consequently, severe salt wasting with hyperkalaemia and metabolic acidosis appear in the afflicted persons. As the channel is disabled by the mutation, treatment of the disease consists of sodium supplementation, low potassium intake and potassium removal with an ion binding resin. Bartter's syndrome is a genetically heterogeneous disease, two forms of which are caused by loss of function of either a K+ or a Cl- channel of the thick ascending loop (the third form of this disease is caused by loss of function of the Na-K-2Cl cotransporter). The disease is characterised by polyuria and salt wasting associated with hypokalemic alkalosis. Treatment is primarily through the supplementation of the lost (K and Na) salts and indometacine treatment to inhibit renal prostaglandine synthesis and consequential further salt wasting. Certain familial forms of nephrolithiasis may be caused by mutations in a Cl- channel of the proximal tubules. Though etiology by the channel defect is certain, the pathogenesis of this disease is poorly understood, therefore an effective treatment is still awaiting.

Original languageHungarian
Pages (from-to)252-259
Number of pages8
JournalLege Artis Medicinae
Volume9
Issue number4
Publication statusPublished - 1999

Fingerprint

Ion Channels
Kidney
Epithelial Sodium Channels
Salts
Potassium
Liddle Syndrome
Hypoaldosteronism
Triamterene
Channelopathies
Bartter Syndrome
Hypernatremia
Hypertension
Therapeutics
Polyuria
Nephrolithiasis
Alkalosis
Mutation
Hyperkalemia
Hyperaldosteronism
Hypokalemia

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Mikala, G., Lakner, G., Renczes, G., & Gachalyi, B. (1999). A vese ioncsatorna-defektusai okozta betegsegek. Lege Artis Medicinae, 9(4), 252-259.

A vese ioncsatorna-defektusai okozta betegsegek. / Mikala, G.; Lakner, G.; Renczes, G.; Gachalyi, B.

In: Lege Artis Medicinae, Vol. 9, No. 4, 1999, p. 252-259.

Research output: Contribution to journalArticle

Mikala, G, Lakner, G, Renczes, G & Gachalyi, B 1999, 'A vese ioncsatorna-defektusai okozta betegsegek', Lege Artis Medicinae, vol. 9, no. 4, pp. 252-259.
Mikala G, Lakner G, Renczes G, Gachalyi B. A vese ioncsatorna-defektusai okozta betegsegek. Lege Artis Medicinae. 1999;9(4):252-259.
Mikala, G. ; Lakner, G. ; Renczes, G. ; Gachalyi, B. / A vese ioncsatorna-defektusai okozta betegsegek. In: Lege Artis Medicinae. 1999 ; Vol. 9, No. 4. pp. 252-259.
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