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2013 ; 2013
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Gitelman syndrome
#MMPMID23585506
Cotovio P
; Silva C
; Oliveira N
; Costa F
BMJ Case Rep
2013[Apr]; 2013
(ä): ä PMID23585506
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Hypokalaemia is a common clinical disorder, the cause of which can usually be
determined by the patient's clinical history. Gitelman syndrome is an inherited
tubulopathy that must be considered in some settings of hypokalaemia. We present
the case of a 60-year-old male patient referred to our nephrology department for
persistent hypokalaemia. Clinical history was positive for symptoms of
orthostatic hypotension and polyuria. There was no history of drugs consumption
other than potassium supplements. Complementary evaluation revealed hypokalaemia
(2.15 mmol/l), hypomagnesaemia (0.29 mmol/l), metabolic alkalosis (pH 7.535,
bicarbonate 34.1 mmol/l), hypereninaemia (281.7 U/ml), increased chloride (160
mmol/l) and sodium (126 mmol/l) urinary excretion and reduced urinary calcium
excretion (0.73 mmol/l). Renal function, remainder serum and urinary ionogram,
and renal ultrasound were normal. A diagnosis of Gitelman syndrome was
established. We reinforced oral supplementation with potassium chloride and
magnesium sulfate. Serum potassium stabilised around 3 mmol/l. The aim of our
article is to remind Gitelman syndrome in the differential diagnosis of
persistent hypokalaemia.
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