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genetics of kidney disease

Alport Syndrome

I recently saw a patient in clinic with long-standing hematuria with numerous family members on her mother’s side with hematuria.  She now presented with proteinuria but stable renal function.  Collagen IVa disease was highly suspected and genetic sequencing…

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Precision Nephrology

One of our attendings, Dr. Sylvia Betcher, PhD, MD gave an excellent presentation at our renal conference about genetic testing in renal diseases that she learned about at #KidneyWeek2015. There were so many good things I liked about…

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Lessons from the Akita mouse

Diabetic nephropathy (DN) is a major cause of ESRD worldwide. While many attempts have been made to develop reliable animal models that mimic human disease—ob/ob, db/db obese diabetes type 2 diabetes models, NOD1 mice, streptozotocin (STZ)-induced diabetes model…

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Electrolyte Channels and Aldosteronism

Over the past few years, it has become apparent that hyperaldosteronism is far commoner than was once suspected and screening of unselected patients with hypertension reveals that about 5-10% of patients have primary hyperaldosteronism. In patients with resistant…

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New potential drug targets in ADPKD

Currently there is no good treatment for the most common inherited cause of ESRD, adult polycystic kidney disease. There have been a number of high profile trials in ADPKD in recent years. These trials have endeavored to show…

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