Magnesium (Mg++) is a predominantly intracellular divalent cation which is critical for many metabolic processes and participates in >300 enzymatic reactions. It is essential for many critical transporters including the Sodium/Potassium ATPase cotransporter. Mg++ also has a critical…
Almost one year ago, Nate posted here about the results of a large GWA study of chronic kidney disease by Kottgen et al. This project was the result of a collaboration between 4 groups, and produced many exciting…
Focal segmental glomerulosclerosis (FSGS) is a clinicopathologic syndrome manifesting with proteinuria, usually of nephrotic range. Early in the disease process, there is a pattern of glomerular sclerosis that is focal, involving a subset of glomeruli, and segmental, involving…
The kidney contributes to glucose homeostasis by reabsorbing ~180 grams of glucose daily. Two sodium-coupled glucose transporters play an important role in this process, SGLT1 and SGLT2. Of these two, SGLT2 (encoded by the gene SLC5A2 on chromosome…
I’m sure many of you have a pet dog. Well, as Rover quietly licks himself in the corner, few would believe that he may hold the key to unlocking the genetic secrets of human disease, as suggested by…
Tamm-Horsfall protein (THP), or uromodulin, is a glycoprotein secreted by the renal epithelium, best known as the proteinacious framework of all urinary casts. It’s function in health is an enigma, but prevention of bacterial colonization of the urinary…
The periodic paralysis syndromes are characterized by episodic attacks of acute muscle weakness, typically due to rapid fluxes in the serum potassium concentration, based on an abnormality in intracellular potassium shift. While there have been several instances of…
I recently saw my first patient formally diagnosed with familial juvenile hyperuricemic nephropathy (FJHN), and since I had little prior knowledge about this condition, I decided to read up. Apparently, FJHN is more common than we think, and…
Hypouricemia is defined as a serum uric acid level less than 2mg/dL. Although it is generally considered benign, hypouricemia has been associated with several important conditions relevant to nephrologists, including acute kidney injury, uric acid nephrolithiasis, and SIADH…
File “Gordon Syndrome” under “interesting causes of hyperkalemia and metabolic acidosis you may never see.” Also called pseudohypoaldosteronism type II, Gordon Syndrome is relevant less so for the number of patients afflicted but more due to the interesting…
