Bartter syndrome

The Bartter syndrome is an extremely rare inherited disease of the ascending branch of the loop of Henle in the kidney. The frequency ( prevalence) is 1: 830,000.

Description

There is a defect in the furosemide - sensitive Na / K / 2Cl - cotransporter ( NKCC2, Type I, also BSC1 called ) [ or of the apical K channel ( ROMK; Type II ) or the basolateral Cl - channel ( ClCKb, type III), with the Na / K / 2Cl - cotransport cooperate in the absorption of NaCl in the diluting segment ] in the ascending limb of Henle's loop of the kidney. This can not be reabsorbed enough sodium ions, which increases the blood pressure drops. This leads on the one hand via pressoreceptors the aorta to catecholamines and on the other hand because geringener perfusion of the afferent to distributions of renin and there is a hyperreninämischer hyperaldosteronism.

Type IV is characterized by a defect in Barttin, the essential β subunit of ClC- K channel which is expressed in addition to the basolateral membrane of the loop of Henle, also in the basolateral membrane of the stria vascularis of the inner ear. This phenotype shows an additional deafness, as the production of K - rich Endolyphe is inhibited.

In type V there is a mutation in the CaSR ( extracellular calcium - ion -sensing receptor), inhibits NKCC2 and ROMK.

The Hyperprostaglandin E syndrome is a combination of Type I, II and III.

Frequency

The disease is associated with an occurrence probability (prevalence ) of 1 to 9: very rarely 1,000,000.

Genetics

The mode of inheritance of type I to IV is autosomal recessive. Type V is, however, an autosomal dominant disorder.

So far five different genes have been found that are involved in the pathogenesis of Bartter 's syndrome:

Symptoms

Blood pressure is typically reduced despite increased renin and aldosterone. At low potassium values ​​it comes to metabolic alkalosis and salt depletion. Dehydration, vomiting, and polyuria are possible. As a result of hyperaldosteronism produced hypokalemia and metabolic alkalosis.

Other symptoms are:

  • Craving for salt
  • Muscle cramps
  • Hypotonia (muscle weakness) to paralysis
  • Tremors, numbness in the fingers / toes, burning feet
  • Migraine-like headache, confusion, memory disturbances, dizziness
  • Joint pain, stomach cramps

Differential diagnosis of Harnkonzentrierungsstörungen

Therapy

An attempt is made to lift by infusions potassium levels and sodium levels. In addition, aldosterone antagonists and prostaglandin synthesis inhibitors may be used (eg, indomethacin ).

History

The Bartter syndrome was in 1962 by the U.S. endocrinologists Frederic Bartter ( 1914-1983 ) first described.

Calcium-sensing receptor Autosome Recessive trait Dominance (genetics) Amnesia Syndrome of inappropriate antidiuretic hormone secretion Diabetes insipidus Paraneoplastic syndrome Central nervous system Polydipsia Desmopressin Gitelman syndrome Orphanet
106665
de