A recent article just published in Nature Genetics by Kottgen et al identifies several loci which appear to confer susceptibility to the development of CKD. How did researchers identify these genes? By a genome-wide association study. Briefly, researchers…
Alport’s Syndrome is a genetic disorder characterized by glomerulonephritis, progression to ESRD, and hearing loss. Intriguingly, it can be inherited in either an X-linked, autosomal recessive, or autosomal dominant manner. Why is the inheritance pattern so complex and…
One of the really interesting aspects of autosomal dominant polycystic kidney disease (ADPKD) is that only about 1% of all nephrons form cysts. You can do the math: if you have about 1 million nephrons per kidney, and…
As we all know, erythropoietin is secreted predominantly by the kidney (85% from the kidney, 15% from the liver) in response to hypoxia and its function is to stimulate erythropoiesis in the bone marrow. What is the receptor…
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…
Plasma oncotic pressure is important to prevent edema, right? And you would think that albumin, which plays a critical role in the binding of multiple plasma proteins and ionized calcium, is essential to life, right? The rare, autosomal…
Pendred Syndrome is an autosomal recessive disorder caused by mutations in the solute carrier family 26 member 4 gene (SLC26A4) which has some relevance to nephrology and acid-base metabolism. Its main phenotypic manifestations are thyroid goiter and sensorineural…
What’s the most common cause of ESRD in the U.S. after diabetes? The classic answer here is “hypertension”, though this answer is a controversial one, as there are many who believe that hypertension alone is not sufficient to…
Hypokalemic periodic paralysis is a relatively rare disease in which individuals experience transient, severe episodes of hypokalemia as a result of rapid intracellular potassium shift into skeletal muscle. The attacks typically manifest as muscle cramps, muscle paralysis, or…
Malignant hyperthermia is a rare but potentially life-threatening genetically-inherited condition in which severe autonomic instability is induced by exposure to various anesthetics. The most common offending agents are halothane (and any other halogenated anesthetic compound) and succinylcholine, and…
