Welcome to the 14th case of the Skeleton Key Group, a team of 40 – odd nephrology fellows who work together to build a monthly education package for the Renal Fellow Network. The cases are actual cases (without…
Ultrasonography of the kidneys is one of the most common imaging modalities performed in children in the nephrology clinic. The routine use of prenatal ultrasound in pregnancy care has additionally provided nephrologists with a view into the kidneys…
Recently, there was an article in Slate magazine that detailed the very difficult decision that had to be made by a pregnant woman who discovered at 18 weeks gestation that her baby had complete bladder outlet obstruction with…
Too long have I seen the “Nail-Patella Syndrome” included in the differential diagnosis of renal disease without understanding anything about it…that ends today! The Nail Patella Syndrome (NPS), also referred to as Hereditary Onychoosteodysplasia, is an autosomal dominant…
A relatively recent study by Bockenhauer et al in NEJM reports the identification of a new disease gene in a rare tubulopathy syndrome that sheds light on the physiologic mechanisms of salt transport in the kidney. The article…
Wilms Tumor–named after the German surgeon/pathologist Max Wilms (pictured at left)–is an embryonal tumor that derives from developing kidney tissue. Wilms was the first to postulate that tumors may arise from precursor cells which arise during development, and…
Pictured on the left is Bob Cratchit and his crippled son, Tiny Tim, two beloved characters from Charles Dickens’ A Christmas Carol. In this fun 1992 article by the pediatrician D.L. Lewis, the case is made that Tiny…
If you’ve never heard the biochemical sleuthwork involved in the legal case of Patricia Stallings, it’s definitely worth reading about: a good summary of the case can be found here. Briefly, it involves a St. Louis-area woman who,…
One of the rare (but potentially underdiagnosed) causes of anion gap metabolic acidosis is acquired 5-oxoprolinuria due to excessive Tylenol ingestion. To explain how this works, you need to familiarize yourself briefly with the gamma-glutamyl cycle, a series…
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…
