Bartter Syndrome Clinical Presentation

Updated: Aug 08, 2016
  • Author: Lynda A Frassetto, MD; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Presentation

History

Neonatal Bartter syndrome

Maternal polyhydramnios, secondary to fetal polyuria, is evident by 24-30 weeks' gestation. Delivery often occurs before term. The newborn has massive polyuria (rate as high as 12-50 mL/kg/h).

The subsequent course is characterized by life-threatening episodes of fluid loss, clinical volume depletion, and failure to thrive. Volume depletion increases thirst, and the normal response is to increase fluid intake.

A subset of patients with neonatal Bartter syndrome (types IV and V) develop sensorineural deafness.

Classic Bartter syndrome

Patients have a history of maternal polyhydramnios and premature delivery. Symptoms include the following:

  • Polyuria
  • Polydipsia
  • Vomiting
  • Constipation
  • Salt craving
  • Tendency for volume depletion
  • Failure to thrive
  • Linear growth retardation

Other symptoms, which appear during late childhood, include fatigue, muscle weakness, cramps, and recurrent carpopedal spasms.

Developmental delay and minimal brain dysfunction with nonspecific electroencephalographic changes are also present.

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Physical Examination

Neonatal Bartter syndrome

Patients are thin and have reduced muscle mass and a triangularly shaped face, which is characterized by a prominent forehead, large eyes, protruding ears, and drooping mouth. Strabismus is frequently present. Blood pressure is within the reference range.

A subset of patients with Bartter syndrome (types IV and V) develop sensorineural deafness, which is detectable with audiometry.

Classic Bartter syndrome

The patient's facial appearance may be similar to that encountered in the neonatal type. However, this finding is infrequent.

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