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Unilateral glomerulocystic kidney disease associated with tuberous sclerosis complex in a neonate
Author(s) -
Murakami Ayumi,
Gomi Kiyoshi,
Tanaka Mio,
Ohyama Makiko,
Itani Yasufumi,
Ishikawa Hiroshi,
Aida Noriko,
Furuya Mitsuko,
Tanaka Yukichi
Publication year - 2012
Publication title -
pathology international
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.73
H-Index - 74
eISSN - 1440-1827
pISSN - 1320-5463
DOI - 10.1111/j.1440-1827.2011.02777.x
Subject(s) - tuberous sclerosis , pathology , cystic kidney disease , kidney , malignancy , parenchyma , cyst , medicine , epithelium , kidney disease , pi3k/akt/mtor pathway , biology , disease , endocrinology , signal transduction , biochemistry
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.