Ent was normotensive (110/70mmHg), had serum creatinine of 0.9mg/dL (regular range: 0.six to 1.2mg/dL), weight of 54kg and 1.50m height (under 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 fun 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 Heilberg Rua Botucatu, 740 Vila Clementino Zip code: 04023900 S Paulo, SP, Brazil Telephone: (55 11) 59041697 E mail: [email protected] Received on: Oct 25, 2013 Accepted on: Aug 29, 2014 DOI: 10.1590/S167945082015RCThis content is licensed beneath a Inventive Commons Attribution 4.0 International License.einstein. 2015;13(four):604Adult presentation of Bartter syndrome type IV with erythrocytosisKCI supplementation six.0 20mL t.i.d. Extra serum laboratorial determinations showed a serum bicarbonate of 23.0mmoL/L, slightly decreased serum ionized calcium (1.09mmoL/L; standard range: 1.15 to 1.32mmoL/L), low serum phosphate (2.2mg/dL; normal variety: 2.5 to four.5mg/dL) and reduced fractional tubular reabsorption of phosphate (TRP; 74.1 ; regular: 80 ) and high serum intact parathyroid hormone (PTH; 120ng/L; normal variety: 15 to 68ng/L). Serum 25OH vitamin D (28.2ng/mL) was slightly under the regular ranges (30ng/mL). Plasma renin (65.0ng/mL; upper limit 6.0ng/mL) and aldosterone (55.7ng/dL; upper limit 31ng/dL) have been elevated. His urinary volume was three,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 were typical (and the bone marrow biopsy was mildly hypocellular except for an erythroid hyperplasia). Serum iron, ferritin and transferrin were normal. Erythropoietin (EPO) was also within standard limits (19.2mUI/mL). Oxyhemoglobin dissociation curve (P50) was normal and Janus kinase 2 (JAK2) mutation evaluation was unfavorable, ruling out polycythemia vera. Two weeks soon after hospital discharge, spironolactone (100mg/day) was added towards the oral KCI supplementation (30mEq/day). In the Disodium 5′-inosinate Data Sheet course of followup the spironolactone dose was enhanced to 200mg/day for a better manage of hypokalemia.DIscUssIoN Though the acquiring of mild hypophosphatemia and elevated serum intact PTH could have initially suggested the presence of some disorder of phosphate metabolism inside the present case, the associati.
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