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Medline ® Abstract for Reference 83

of 'Renal manifestations of tuberous sclerosis complex'

Unilateral glomerulocystic kidney disease associated with tuberous sclerosis complex in a neonate.
Murakami A, Gomi K, Tanaka M, Ohyama M, Itani Y, Ishikawa H, Aida N, Furuya M, Tanaka Y
Pathol Int. 2012 Mar;62(3):209-15. Epub 2012 Jan 13.
We report a case of glomerular cystic kidney disease (GCKD) associated with tuberous sclerosis complex (TSC) in a neonate. The patient displayed progressive abdominal enlargement attributed to GCKD associated with TSC. After birth, the right kidney was resected because it compressed his liver and right lung, and possible malignancy could not be excluded. Macroscopically, the resected kidney was markedly enlarged, and histologically the kidney had numerous glomerular cysts accompanied by papillary epithelial growth. Notably, a small area of normal parenchyma was observed at the lower pole. The epithelial cells of the cysts displaying a papillary growth pattern were positive for mTOR, phosphorylated mTOR, and phosphorylated S6 ribosomal protein (p-S6). The morphologically noncystic, normal-looking tubular epithelium was also positive for p-S6. These results imply that one more molecular event might be necessary for cyst formation in GCKD associated with TSC, in addition to the activation of mTOR signaling.
Division of Pathology, Kanagawa Children's Medical Center Department of Pathology, Yokohama City University Graduate School of Medicine, Kanazawa-ku, Yokohama, Japan. t086054d@yokohama-cu.ac.jp