The results are out and the first round is a shocker. What was the panel thinking? KT/V beating depression was a shock to me but just shows how obsessed nephrologists are with numbers. But it was the choice of podocytopathies over ciliopathies that really pushed me over the edge – there’s NephMadness and then there’s just crazy behavior!
The primary cilium is an unassuming structure, its tiny hairlike form apparently no match for better known and more loved podocytes. Ciliopathies are not merely an expanding group of conditions, they are a disease group in which clinical genetic testing, research level genetic testing and functional genomics are dramatically broadening our knowledge base. As it becomes apparent that phenotypically disparate conditions, from isolated retinitis pigmentosa to Bardet-Bieldel syndrome, can result from mutations in the same gene, the importance of understanding the structure and function of the primary cilium becomes increasingly obvious.
Conversely, that disparate genetic mutations affecting different proteins can cause identical multi-system phenotypes, such as Joubert syndrome, has changed how these diseases are classified. Is it enough to define a disease by how it affects the patient? Should it be defined by the molecular change or by the genetic mutation itself? How do co-mutations, mutation type, or the concept of oligo-genetic inheritance impact on cilial function?
For this renal geneticist, deciding between podocytopathies and ciliopathies should have been simple – choose the multi-system disease group where research is expanding scientific knowledge.
Can someone explain to me why the podocytes won?
Post by Cathy Quinlan follower her @KidneyCathy
**This post is not actually from the president of the world ciliopathy society. This is a parody in the spirit of NephMadnes