Ent was normotensive (110/70mmHg), had serum creatinine of 0.9mg/dL (typical variety: 0.6 to 1.2mg/dL), weight of 54kg and 1.50m height (beneath the fifth percentile stature for age). Intravenous potassium chloride (KCI) replacement was began with 19.1 20mL, followed by oralresUMoA s drome de Bartter compreende um grupo raro de doen s autoss icas recessivas perdedoras de sal, decorrentes de muta es em genes expressos na por o ascendente espessa da al de Henle, com fen ipos distintos, por fisiopatogenia ica, que consiste em redu o severa da reabsor o de s io, e aumento da excre o urin ia de hidrog io e pot sio, levando alcalose hipocal ica. A s drome de Bartter tipo IV, causada por muta es com perda de exciting o da bartina, uma subunidade do canal de cloro CLCKb expressa no rim e ouvido interno, geralmente se apresenta nos per dos ante e neonatal. No presente relato, descrevese um caso n usual de s drome de Bartter tipo IV com apresenta o tardia e fen ipo atenuado, diagnosticado por an ise molecular, em um homem adulto de 20 anos que se apresentava com hipocalemia, surdez, hiperparatireoidismo secund io e eritrocitose. Descritores: S drome de Bartter; Hipopotassemia; Canais de cloreto; Relatos de casos1Universidade Federal de S Paulo, S Paulo, SP, Brazil. Faculdade de Ci cias M icas, Universidade Nova de Lisboa, Lisboa, Portugal.Corresponding author: Ita Pfeferman Indigo carmine MedChemExpress heilberg Rua Botucatu, 740 Vila Clementino Zip code: 04023900 S Paulo, SP, Brazil Telephone: (55 11) 59041697 Email: [email protected] Received on: Oct 25, 2013 Accepted on: Aug 29, 2014 DOI: 10.1590/S167945082015RCThis content is licensed below a Inventive Commons Attribution 4.0 International License.einstein. 2015;13(4):604Adult presentation of Bartter syndrome kind IV with erythrocytosisKCI supplementation six.0 20mL t.i.d. Additional serum laboratorial determinations showed a serum bicarbonate of 23.0mmoL/L, slightly decreased serum ionized calcium (1.09mmoL/L; normal range: 1.15 to 1.32mmoL/L), low serum phosphate (2.2mg/dL; regular range: two.5 to four.5mg/dL) and decreased fractional tubular reabsorption of phosphate (TRP; 74.1 ; regular: 80 ) and high serum ADAM10 Inhibitors products intact parathyroid hormone (PTH; 120ng/L; typical range: 15 to 68ng/L). Serum 25OH vitamin D (28.2ng/mL) was slightly beneath the typical ranges (30ng/mL). Plasma renin (65.0ng/mL; upper limit six.0ng/mL) and aldosterone (55.7ng/dL; upper limit 31ng/dL) were elevated. His urinary volume was 3,530mL/day but hypercalciuria was not detected. A computed helical tomography excluded nephrocalcinosis. Urinary retinolbinding protein (RBP; 41mg/L; upper limit 0.40mg/L) was markedly elevated. The etiology of erythrocytosis was investigated. Leucocytes and platelet counts have been typical (plus the bone marrow biopsy was mildly hypocellular except for an erythroid hyperplasia). Serum iron, ferritin and transferrin have been regular. Erythropoietin (EPO) was also within regular limits (19.2mUI/mL). Oxyhemoglobin dissociation curve (P50) was normal and Janus kinase 2 (JAK2) mutation evaluation was negative, ruling out polycythemia vera. Two weeks right after hospital discharge, spironolactone (100mg/day) was added towards the oral KCI supplementation (30mEq/day). For the duration of followup the spironolactone dose was improved to 200mg/day for a greater handle of hypokalemia.DIscUssIoN While the acquiring of mild hypophosphatemia and elevated serum intact PTH could have initially recommended the presence of some disorder of phosphate metabolism in the present case, the associati.