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“A Caucasian girl, the product of a non-consanguineous union, was delivered after a full-term uneventful pregnancy with a birth weight of 4.1 kg. At 15 months, she presented to the emergency room with signs of a respiratory illness and was found to weigh 6.14 kg, below the 3rd percentile for age. She had no history of fevers,

click here dehydration, or photophobia and there was no family history of renal or other medical disease. The patient had one elder sister who had no medical complaints. Physical examination revealed a fair-haired blue-eyed child with pale complexion. Details of her ethnic ancestry were unknown. Blood pressure was normal and the remainder of the physical examination was also unremarkable. Laboratory investigations

at 15 months revealed blood urea nitrogen 9 mg per 100 ml (normal range (N) = 8-25), serum creatinine 0.6 mg per 100 ml (estimated MDV3100 price creatinine clearance < 60 ml min(-1)), serum sodium 133 mmol l(-1) (N = 136-145), potassium 3 mmol l(-1) (N = 3.5-5.5), chloride 105 mmol l(-1) (N = 96-106 mEq l(-1)), total carbon dioxide (CO2) 18.7 mEql(-1) (N = 22-30), serum calcium 10.6 mg per 100 ml (N 8.5-10.6 mg per 100 ml), and phosphate 3.4 mg per 100 ml (N = 2.5-4.6). Arterial blood gas was not drawn. Urinalysis revealed specific gravity < 1.005, no protein or cells, and trace glycosuria. However, there was no evidence of phosphaturia (24 h urinary phosphorous excretion 0.2 mmol, N = 0.4-1.3), hypercalciuria, selleckchem or increased urinary organic acid excretion. Measurement of urinary amino acids was not performed. Hematologic

parameters and thyroid function tests, including thyroid stimulating hormone, T4, and free T4, were within normal limits. Based on the finding of hypokalemia, an investigation for possible Bartter’s syndrome was undertaken. These tests revealed markedly elevated plasma levels of renin (119 853 ng per 100 ml per h, N = 171-115) and aldosterone (715 ng per 100 ml, N = 3-35) that, together with the findings of normal blood pressure, hypokalemia, and hyponatremia, suggested a diagnosis of acquired Bartter’s syndrome.

The patient was treated for the next two and a half years with indomethacin and electrolyte replacement, including potassium chloride and calcium carbonate. During this time, she gained weight and normalization of blood electrolytes. However, at 4 years of age, she was noted to have worsening renal insufficiency (serum creatinine 1.2-1.4 mg per 100 ml) and 4+ proteinuria on dipstick. At this time, an elevated thyroid stimulating hormone was noted (17.27 IU ml(-1), N = 0.3-5.0), indicating hypothyroidism, and thyroid replacement therapy was commenced. Indomethacin was discontinued but renal function and proteinuria continued to deteriorate over the following year. At age 5 years, serum creatinine was 2.