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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Cystic kidneys in a patient with oral-facial-digital syndrome type I.

A cystic renal lesion is described in a girl with oral-facial-digital syndrome, type I. Excretory urography was normal at 1 yr of age; however, flank masses, hypertension, and renal failure were discovered at 11 yr of age. Bilateral nephrectomies were performed prior to renal transplantation. The renal cortex was replaced by large cysts. The cysts were lined by flattened nondescript epithelium and many contained glomerular tufts. Twenty renal cysts were aspirated, and the cyst fluid analyzed for sodium, potassium, creatinine, and osmolality. The concentration of solutes in the cyst fluid was comparable to plasma values. The pathologic features and pattern of cyst solute concentration appear to distinguish the cystic renal lesion in oral-facial-digital syndrome from the more common adult-type polycystic kidney disease.[1]


  1. Cystic kidneys in a patient with oral-facial-digital syndrome type I. Stapleton, F.B., Bernstein, J., Koh, G., Roy, S., Wilroy, R.S. Am. J. Kidney Dis. (1982) [Pubmed]
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