The most recent issue of NephSAP (“Fluids, Electrolytes, and Acid-Base Disturbances”) features a mini-review describing the role of the kinase SGK1 in the regulation of various nephrology-related disorders, such as salt-sensitive hypertension, metabolic syndrome, and renal fibrosis. How…
Dent Disease is a rare, X-linked inherited disease of pediatric nephrology. It can be filed under the category of “renal tubular dysfunction” and is also known as “X-linked Recessive Nephrolithiasis.” Clinical characteristics of Dent Disease include recurrent renal…
Several months back I posted something on hepcidin–the 25 amino acid peptide secreted by the liver which appears to be the “master regulator” of iron metabolism, and whose levels appear to be perhaps increased in ESRD patients, providing…
Don’t be fooled into dialyzing patients that don’t need to be dialyzed! You have to beware of the pseudohyperkalemia. The most common cause of pseudohyperkalemia of course is due to hemolysis from venipuncture. There are other, more rare,…
I saw a patient in my clinic today with the diagnosis of von Hippel-Lindau Disease. She has a Cr in the mid 2’s as a result of prior vascular disease as well as being status-post nephrectomy for a…
It took me until just recently to realize this, but the Tamm-Horsfall protein and uromodulin are two names for the same gene. As we all know, Tamm-Horsfall protein (discovered by Tamm and Horsfall in 1950) is the…
The TRP (transient receptor potential) family of proteins is a group of related ion channels which is becoming increasingly relevant to the field of nephrologists. The TRPs are cation channels which are responsible for moving Ca2+ and Mg2+…
Fabry’s Disease is an X-linked disease caused by a mutation in the alpha-galactosidase A gene, resulting in the accumulation of glycosphingolipids within lysosomes. In the kidney under electron microscopy, this is manifested as the presence of multiple round…
Potter’s Syndrome–perhaps more accurately referred to as Potter’s Sequence as it refers to the pathophysiologic consequences of lack of kidney function in utero–is characterized by absence of renal function, oligohydramnios, pulmonary hypoplasia, and a characteristic “Potter’s facies”, in…
