Submitted to: Emerging Infectious Diseases
Publication Type: Abstract Only
Publication Acceptance Date: 3/11/1998
Publication Date: N/A
Citation: Interpretive Summary:
Technical Abstract: PKD is the most common monogenetic human disease resulting in pathology; over 600,000 individuals in the USA are afflicted, with greater than 50% progressing to end stage renal disease by age 50. Although classically viewed as an inherited disease following Mendelian genetics, we have recently proposed that PKD is an emerging infectious disease and/or microbial toxicosis in a genetically vulnerable subpopulation. Evidence of microbial involvement in PKD include the intrarenal presence of endotoxin, (1-3)-beta-D-glucans (fungal cell wall component), fungal antigens, IgE reactive with fungal species, and fungal DNA. Electron microscopy of cyst fluid revealed structures similar to fungal cell walls. During studies of PKD cell biology, cystic epithelial cells isolated and propagated in vitro from two patients obtained and studied 16 months apart revealed growth of a Penicillium species; other cells and sterility checks of reagents did not show fungi. Phenotypic data by light and scanning electron microscopy, and rDNA sequence data from this and potentially related Penicillium species, were gathered and compared. All evidence shows that this is a new fungal species whose only known source, to date, is PKD kidney derived cells in vitro; we name this species P. pimiteouiensis.