The “ciliary hypothesis” refers to the idea that primary cilia–single, non-motile, microtubule-based structures which are found on the apical surface of renal tubular epithelial cells–play an integral role in the pathogenesis of polycystic kidney disease. Scientists have long…
The Ret gene plays an integral role in kidney development. As is covered in any basic embryology class, the cross-talk between the ureteric bud (destined to become the collecting system of the kidney) and the metanephrogenic mesenchyme (destined…
Congenital nephrotic syndrome only makes up between 2-8% of all forms of nephrotic syndrome, but is a hot topic in that there are numerous genes continuously being identified which are helping to advance our understanding of podocyte biology….
One of the as-yet unresolved major controversies in nephrology is whether or not the entity “hypertensive nephropathy” really exists. Certainly there are a large percentage of the dialysis population who do not have diabetic nephropathy, glomerulonephritis, nephrotic syndrome,…
Any nephrologist practicing in the U.S. does not need to be told that there is an increased incidence of end-stage renal disease in blacks. Furthermore, certain diseases–such as collapsing focal segmental glomerulosclerosis (FSGS), occur almost exclusively in black…
The human angiotensin coverting enzyme (ACE) gene is located on chromosome 17q23 and is comprised of 26 exons and 25 introns. Importantly, there is an insertion/deletion polymorphism in which a 278-bp fragment is either present or absent within…
The ENAC channel in the distal tubule is responsible for sodium reabsorption. It is comprised of 2 alpha, 1 beta, and 1 gamma subunit with each encoded by a separate gene. Interestingly, mutations in ENAC can lead to…
A subset of pediatric patients with a clinical and biochemical profile consistent with SIADH (the syndrome of inappropriate ADH secretion)–that is, euvolemic hyponatremia with an inappropriately elevated urine osmolarity–have low to undetectable levels of ADH. What’s going on?…
Don’t confuse “cystinosis” with “cystinuria”: they are different diseases, both genetic and both involving the amino acid cystine–but with decidedly different pathogeneses. Hereditary cystinosis is an autosomal recessive disorder caused by mutations in the CTNS gene, which encodes…
In order for renal cysts to grow in patients with polycystic kidney disease, it turns out this requires the pumping of chloride ion into the cyst lumen. This is carried out by the CFTR channel, the same chloride…
