NYC Chronicles (Week 4): Characterizing Autosomal Dominant Polycystic Kidney Disease (ADPKD)

The immersion program this week has been filled with increased work hours, MRI interpretation and data analysis. Aside from the weekly visits to Columbia University Medical Center (CUMU) to attend the liver transplant conference and interpret MR images with the CUMC radiology fellows, I finally settled on one of the many interesting projects that my clinician, Dr. Martin Prince, had available for me. The goal of my project is to help determine a genetic correlation between seminal vesicle lumen diameter and the severity of renal and extrarenal (hepatic and pancreatic) cysts that develop in males with autosomal dominant polycystic disease (ADPKD), which is a common genetic disorder that enhances renal epithelial cell proliferation and the development fluid-filled cyst in the kidneys, ultimately progressing to kidney failure (See figure below). There are two types of ADPKD conditions that cause malformations in the development of polyscystin-1, a mechanoreceptor responsible for converting cell-cell and cell-ECM interactions into biochemical response to maintain renal tubule diameter (seen in PKD1 patients), or polycystin-2, a calcium-permeable membrane channel  that complexes with polycystin-1 (PKD2 patients).

Previous work from Reig et al. (2015) has shown that there may be a genetic correlation between seminal vesicle lumen enlargement and ADPKD. So far, I have just been interpreting MR images with Dr. Prince, collecting data regarding the relevant parameters of our study, and performing statistical analysis on the data collected. I also got the chance to meet some of the ADPKD patients who come to Weill Cornell for their annual MRI scans. This week Dr. Prince and I met a group of brothers (4 out of 6) who were affected by this disease; and this family is of particular interest because they can help shed light on the genetic factors that contribute to seminal vesicle diameter and the severity of their ADPKD symptoms. After Dr. Prince explained to the patients the strides that we are trying to make in this under-studied field, they were so enthusiastic and optimistic about the potential discovery of novel prognostic tools and therapies to prevent the progression of this disease. Although the work that I have been doing so far is very tedious, I am having a great time working with Dr. Prince and interacting with his patients, which definitely serves as a reminder on the importance of scientific research and the implications it has on the lives of others.


Reig B, Blumenfeld J, Donahue S, Prince M. Seminal megavesicle in autosomal dominant polycystic kidney disease. Clinical Imaging 2015; 30:289-292.

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