One of the easier aspects to taking an examination like the boards is pattern recognition: there are certain images or associations that should be immediate triggers for a particular diagnosis. One good example of this is a knowledge…
I remember learning about Lesch-Nyhan and thinking it was fascinating early on during a college course on neurology & behavior: affected children with this X-linked disorder develop the bizarre but highly characteristic behavior of self-mutilation, intentional biting of…
Patients with ADPKD are predisposed to nephrolithiasis. The postulated reasons for this increased prevalence of stone disease have ranged from metabolic abnormalities (previous reports have shown an increased tendency for hyperoxaluria, hypercalciuria, hypocitraturia, hyperuricosuria, and distal RTA) to…
Extracorporeal shock wave lithotripsy (ESWL), invented during the 1980s in Germany, uses concentrated pulses of sound waves to break up kidney stones too large to pass on their own into smaller pieces, which will then have a chance…
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…
Xanthogranulomatous pyelonephritis (XGP) is a rare but severe complication of chronic UTIs. I think of it (in simplistic terms) as a pyelonephritis so severe that it results in loss of renal function of the affected kidney as well…
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 latest theories on nephrolithiasis involve an anatomical lesion termed “Randall’s Plaques”, which are calcified, whitish plaques in the renal papillae which may be visualized during endoscopy (see arrows in Figure a, taken from a JCI paper by…
Hyperoxaluria is one of the well-established risk factors for stone formation; this certainly makes sense as the most common type of kidney stone is of the calcium oxalate variety. Interestingly, having high levels of serum oxalate does not…
Staghorn calculi are upper urinary tract kidney stones which involve the renal pelvis and involve at least two of the calyces. They are formed in the setting of an alkaline pH and urease-producing micro-organisms, which leads to the…
