Abstract

LOPEZ PEREZ, JUAN JOSÉ; JAIMES MARTINEZ, LUISA FERNANDA  and  GALVIS ALVARADO, EDGAR FERNANDO. BARTTER SYNDROME: A CASE REPORT AND LITERATURE REVIEW. rev.fac.med [online]. 2011, vol.19, n.2, pp.185-206. ISSN 0121-5256.

Background. The Bartter Syndrome (BS) includes a group of tubulopathies characterized mainly by hypokalemia, metabolic alkalosis, hyperreninemia and hyperaldosteronism, with normal blood pressure. It involves primarily the sodium chloride resorption in the ascending limb of the loop of Henle, although in other variants, the distal convoluted tubule can be affected. Since its first description, six varieties have been described over time, which determines its genetic heterogeneity and variable expression. It is a rare disease with an estimated prevalence of 1 per million people. This disease can be suspected and diagnosed before birth, though in some cases, depending on its presentation and the physician's thoroughness, the diagnosis can be delayed. Both the proper and timely diagnosis and the appropriate management can avoid many of its complications which can lead even to death. Case presentation. A case of 14-month male infant presenting with vomit, asthenia, adynamia, and generalized paleness is presented. At admission, his weight is 5.4 kg and height 69 cm, with marked reduction of his adipose pannus and muscular mass, with no edema. The tests reported serum potassium 2.02 mEq/L, chlorine 89.4 mEq/L, sodium 134.5 mEq/L, magnesium 2.39 mg/ dl, albumin 4.52 gr/dl, serum creatinine 0.17 mg/dl, urinalysis with proteinuria 75 mg/dl, and a normal renal echography. Bartter syndrome was suspected reason why venous gases were ordered which showed pH 7.519, pO2 60 mmHg, pCO2 32,5 mmHg, HCO3 25.8 mmol/l, BE 3.3 mmol/L, urine calcium/creatinine ratio 0.056, aldosterone 11.9 ngr/dl and total renin 459 pg/ml. With these results, the patient was diagnosed with BS, being compatible with type III. Potassium supplements and potassium sparing diuretics were started without achieving a proper serum potassium increase and only after starting indomethacine it could be corrected as well as the appropriate pondostatural increase. Below, there is a literature review about the Bartter syndrome. Conclusions. The BS is a rare entity but it should be suspected when there is maternal polyhydramnios with no clear cause, inappropriate growth with no evidence of primary malnutrition or other gastrointestinal or endocrinological disorders.

Keywords : Bartter; tubulopathy; hypokalemia.

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