Interesting review in this month’s CJASN: “Can we personalize treatment for kidney diseases?” by Rovin et al. The term “personalized medicine” has been defined by the U.S. Congress as, “the application of genomic and molecular data to…
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…
Mutations in the CFTR gene are responsible for cystic fibrosis. CFTR encodes a chloride transporter which in addition to its being expressed in the lungs and pancreas, is also found in the kidney. As I have blogged about previously,…
Tuberous sclerosis complex (TSC) is a rare genetic disease, caused by mutations within one of two genes (TSC1 or TSC2) which is named for the formation of hard tumors (“tubers”) within a variety of tissues, including the CNS,…
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…
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…
One of the diagnostic dilemmas which frequently comes up in the outpatient evaluation of hypercalcemia (and also, I’m told, on boards-type exams) is how to differentiate familial hypocalciuric hypercalcemia versus primary hyperparathroidism–both of which are common causes of…
For the research component of my Nephrology fellowship, I’ve chosen an unorthodox route: I am using the zebrafish as a model organism for the study of kidney disease. The zebrafish system has a number of advantages. First,…
