Bartter syndrome in homozygous twins

Abstract

Bartter syndrome is characterized by hyperreninemia against the background of hyperplasia of juxtaglomerular cells, hyperaldosteronuria, potassium deficiency, metabolic alkalosis, and vascular resistance to angiotensin.A study of the pathogenetic aspects of this disease allowed a number of authors suppose that this syndrome is associated with autosomal recessive inheritance, in which there may be no sensitivity of vessels to the pressor effect of angiotensin II, impaired renal reabsorption of sodium and chlorine, increased renal production of prostaglandin E. Primary renal defect, leading to the loss of potassium also is not excluded, because bilateral adrenalectomy does not completely reduce hypokalemia. However, it is not always possible to establish a primary genetic defect.The clinical symptoms of this disease are characterized by adynamia, polyuria, polydipsia, headache, and sometimes vomiting. Blood pressure is normal or even low. Children have a lag in mental and physical development.The pathophysiology of clinical symptoms is caused either by a hereditary disorder of tubular reabsorption of potassium and secondary sodium due to an enzymatic defect in the tubule wall, or by resistance of target cells to the stimulation by renin, angiotensin, and aldosterone, the production of which increases due to a disturbed feedback mechanism.In foreign literature, a description of this syndrome is quite rare. This fact was the basis for the publication of a similar clinical syndrome in homozygous twins - brothers A. and D. born in 1967, who were followed up for 3 years.