Hypokalemia and deafness

I attended a research seminar last week given by the discoverer of EAST syndrome. This a rare, autosomal recessive condition in which children present with Epilepsy, Ataxia, Sensorineural deafness and Tubulopathy. It was a fascinating lecture detailing the…

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Falls and dialysis

The recent death of the actor Gary Coleman after a fall in his home brought to mind the issue of falls in dialysis patients. Gary was best known for playing the role of Arnold in the TV show…

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Race and the prediction of GFR by MDRD

The 4 variable MDRD equation was developed based on a US sample of 1628 participants in which glomerular filtration rate was measured as the renal clearance of I-iothalamate and a prediction equation was formulated using serum creatinine, age,…

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Board question: Hypertension-1 answer

The best answer is D. Lifton et al. described a single gene mutation on the hormone-binding domain of the mineralocorticoid receptor (MCR). Individuals with this missense mutation develop early-onset hypertension with characteristic low renin and aldosterone levels. The…

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Board question of the week: Hypertension-1

A 26-year-old primigravid woman is admitted during her 34th week of pregnancy with severe, refractory hypertension. She was noted to have mild hypertension prior to pregnancy. Her family history is remarkable for pregnancy-related hypertension in her aunt. Her…

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