Bartter syndrome- type 3

Overview

Bartter's syndrome, type 3: A rare condition characterized by an electrolyte imbalance caused by mutations of the chloride channel gene (ClCNKb). It differs from Bartter's syndrome type I and type II in the absence of nephrocalcinosis. The severity of the condition is greatly variable

Symptoms

The list of signs and symptoms mentioned in various sources for Bartter's syndrome, type 3 includes the 8 symptoms listed below:

  • Severe volume depletion
  • Hypokalemic alkalosis
  • Respiratory arrest
  • Polyuria
  • Weakness
  • Asymptomatic
  • Polyhydramnios
  • Neonatal dehydration

Causes

Causes of Bartter syndrome include the following:

Neonatal Bartter syndrome

  • An autosomal recessive mode of inheritance is observed in some patients, although many cases are sporadic.
  • In type I Bartter syndrome, loss-of-function mutations in the sodium-chloride potassium-chloride cotransporter gene NKCC2 (locus SLC12A1 on chromosome bands 15q15-21) have been detected.
  • In type II Bartter syndrome, mutations occur in the ROMK gene (locus KCNJ1 on chromosome bands 11q24-25).
  • Newly described genetic defects include type IV (in the BSND gene) and type V (digenic, in both CLCNKB and CLCNKA genes).

Classic Bartter syndrome

  • Some patients have an autosomal recessive mode of inheritance, although many cases are sporadic.
  • A subset of patients display mutations in the chloride-channel gene CLCNKB (locus CLCNKB on chromosome band 1p36). These represent type III Bartter syndrome.