Bartter Syndrome

Autosomal recessive transmitted secondary hyperaldosteronism with normal blood pressure and polyuria. Peculiar facies is common. Do not confuse with Schwarz-Bartter syndrome (also called syndrome of inappropriate antidiuretic hormone secretion [SIADH]).

Hypokalemic Alkalosis with Hypercalciuria Aldosteronism-Normal Blood Pressure Syndrome; Hypokalemic Alkalosis Juxtaglomerular Hyperplasia Syndrome.

Named after the American physician Frederic Crosby Bartter, who described this syndrome in 1962. However, 2 years earlier, P. Pronove had already described the disorder in a 5-year-old boy.

Exact incidence is unknown, but is estimated to be approximately 1:1,000,000 to 10 in 1,000,000 live births. No racial or sexual predilection has been reported.

Autosomal recessive.

Caused by mutation in the Na-K-2Cl cotransporter gene (located on 1p36); it also is caused by mutations in the K+ channel (ROMK). The primary defect resides in active chloride reabsorption in the loop of Henle.

Unusual form of secondary hyperaldosteronism in which hypertrophy and hyperplasia of the juxtaglomerular cells are associated with normal blood pressure and hypokalemic alkalosis in the absence of edema. The features are short stature, hyperactive renin-angiotensin system, lack of effect of angiotensin on blood pressure, renal potassium wasting, increased renal prostaglandin production, and occasionally hypomagnesemia. It can be simulated by habitual vomiting, as in anorexia nervosa.

The first consequence of the tubular defect in Bartter syndrome is polyuria, which is already present during fetal life. It is responsible for particular complications of pregnancy, such as polyhydramnios and premature delivery. Patients usually are symptomatic early in life (growth usually is below the age standards, and final height may be compromised). Clinical features include peculiar facies with large head, prominent forehead, triangular face, large pinnae, and large eyes. Renal failure is frequent and nephrocalcinosis, renal juxtaglomerular cell hypertrophy, and increased renal echogenicity with loss of corticomedullary differentiation have been described. Other signs include mental retardation generalized weakness, muscle cramps, tetany, amyotrophia, platelet aggregation defect, polydipsia polyuria, vomiting, and constipation.

Evaluate muscular weakness (clinical, electromyogram) and renal function (laboratory, ultrasound, radionuclide imaging). Laboratory investigations should include electrolytes, arterial blood gas analysis (hypokalemic metabolic alkalosis), plasma aldosterone, and plasma renin (hyperactive renin-angiotensin system). An electrocardiogram may be obtained to evaluate for arrhythmias.

High aspiration risk because of gastric mobility perturbation. Preoperative medications should be continued for as long as possible and reintroduced as soon as possible. Intraoperative fluid regimen can increase hypokalemia and hyperventilation. Perioperative cardiac monitoring can be necessary in case of profound hypokalemia (even in chronic hypokalemia, where anesthesia provides less arrhythmias than in acute hypokalemia).

Adapt muscle relaxants to muscular amyotrophy and hypotonia. Propofol should be avoided for prolonged anesthesia or sedation because of its effect on urinary acid excretion. Caution if insulin or bicarbonates are used (risk of hypokalemia).

Antenatal Hypercalciuric Form of Bartter Syndrome (Hyperprostaglandin E Syndrome): The abnormalities in this form of Bartter syndrome already present between ...