Abstract

Objective: Bartter syndrome is a type of autosomal-recessive genetic abnormality with a low prevalence. In this abnormality, due to the mutations in the cotransporters and channeling proteins that are responsible for the transfer of sodium, chloride and potassium electrolytes in the thick ascending loop of Henle, the body throws out a large amount of these electrolytes through the urine. Early birth (prematurity), polyhydramnios, alkalosis and hypokalemia are the most important side effects of Bartter syndrome. Accordingly, quick detection of this can improve the treatment. Methods and Materials: The purpose of the current study is to investigate the symptoms of patients referred to Sheikh Hospital (Mashhad, Iran) over the past ten years due to Bartter's syndrome. Accordingly, by referring to patients' files, information about them is extracted from the historical documents and, statistically analyzed. Patients are also requested to complete a questionnaire, if necessary, through a telephone conversation. Results: Our findings indicated that symptoms including fever, polyuria, polydipsia, nausea and seizure, fever, physical and mental retardation, and one death among 14 participants were reported. Also, the biochemical findings of this study showed that potassium ion (k+ ) concentration in the serum of neonates was significantly lower than normal (p = 0.0001), and the concentration of calcium ions (Ca2+) and urea composition was significantly higher than normal (p = 0.0001). Also, sonographic findings showed that nephrocalcinosis and microlithiasis were observed in the participants in this study. Potassium chloride, normal saline, Brufen and Aldactone were used for treatment. Conclusion: It can be concluded that high concentrations of calcium and urea, low concentration of potassium ion, and complications such as fever and seizure along with polyhydramnios and nephrocalcinosis are the most important symptoms seen in patients with Bartter syndrome in the last 10 years.

Highlights

  • The purpose of the current study is to investigate the symptoms of patients referred to Sheikh Hospital (Mashhad, Iran) over the past ten years due to Bartter's syndrome

  • In 1962, Bartter et al identified a new syndrome characterized by hypokalemia and metabolic alkalosis with hyperaldosteronism and hyperplasia of the juxtaglomerular apparatus (JGA) [1]

  • Our study aimed to review and evaluate ten-year information of patients with Bartter syndrome in Sheikh Hospital to diagnose this disease sooner and to help patients have a faster recovery

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Summary

Introduction

In 1962, Bartter et al identified a new syndrome characterized by hypokalemia and metabolic alkalosis with hyperaldosteronism and hyperplasia of the juxtaglomerular apparatus (JGA) [1]. Bartter syndrome (BS) is currently recognized as a rare inherited renal tubular disorder that affects around 1 in 1,000,000 of the population. It is, caused by defective salt reabsorption in the thick ascending limb (TAL) of the loop of Henle, resulting in salt wasting, hypokalemia and metabolic alkalosis with relatively low levels of serum chloride [2]. Impairment in the sodium-potassium-chloride cotransporter (NKCC2) or the potassium channel (ROMK) affects the transport of sodium, potassium, and chloride in the thick ascending limb of the loop of Henle (TALH) This results in increased distal delivery of these ions, where only some sodium is reabsorbed, and potassium is secreted [3]

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