bubble_chart Overview

Bartter syndrome is a refractory disease. It is a secondary hyperaldosteronism syndrome caused by hyperplasia of the juxtaglomerular cells in the kidneys, which secrete excessive renin. The clinical manifestations mainly include symptoms of hypokalemia such as muscle weakness, periodic paralysis, arrhythmia, and intestinal paralysis, as well as polydipsia, increased nocturia, and osteoporosis.

bubble_chart Etiology

This syndrome is commonly seen in childhood, occurring sporadically or as a familial autosomal recessive disorder. The disease cause involves a disturbance in NaCl transport in the thick ascending limb of Henle's loop and the distal renal tubule. Depletion of potassium, sodium, and chloride stimulates renin release accompanied by hyperplasia of the juxtaglomerular cells. Elevated aldosterone levels are present, but correcting hyperaldosteronism does not improve potassium loss. Sodium depletion leads to chronic low plasma volume, manifesting as normal blood pressure despite increased renin and angiotensin levels, along with impaired pressor response to angiotensin infusion. Metabolic alkalosis frequently occurs. Platelet aggregation is inhibited. Hyperuricemia and hypomagnesemia may be present. The kinin-prostaglandin axis is stimulated, resulting in increased urinary excretion of prostaglandins and kallikrein.

bubble_chart Diagnosis

Mainly manifested as hypokalemic symptoms such as muscle weakness, periodic paralysis, arrhythmia, and intestinal paralysis, as well as polydipsia, increased nocturia, and osteoporosis. The incidence is higher in children, with delayed growth and development, and decreased intelligence. The treatment primarily involves a diet rich in potassium chloride and oral administration of indomethacin. Currently, there are no other specific treatment methods.

Bartter syndrome differs from other diseases associated with hyperaldosteronism in the absence of hypertension (primary hyperaldosteronism presents with hypertension) and edema (secondary hyperaldosteronism presents with edema). In adults, it is necessary to rule out bulimia nervosa, vomiting, or the private use of diuretics or laxatives. In these cases, urinary chloride is often low (<20mmol/L).

The simultaneous abnormalities of fluids, electrolytes, and hormones are characterized by renal potassium, sodium, and chloride depletion, hypokalemia, hyperaldosteronism, hyperreninemia, and normal blood pressure.

bubble_chart Treatment Measures

Potassium supplementation combined with spironolactone, triamterene, amiloride, an ACE inhibitor, or indomethacin can correct most symptoms, but none of these medications can completely eliminate potassium loss. Taking indomethacin at 1-2 mg/kg per day often maintains plasma potassium levels near the lower limit of normal.