title: Familial adult medullary cystic disease with spastic quadriparesis: a new disease association.
abstract: We present two cases of familial adult medullary cystic disease with spastic quadriparesis, an association not previously described. Previous extrarenal associations of the nephronophthisis-medullary cystic disease complex were reported exclusively in childhood cases. Both patients have undergone successful cadaveric renal transplantation, with no evidence of their renal disease recurring. Further work is needed to elucidate the complex genetics of nephronophthisis.
authors.affiliation: Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
authors.forename: A
authors.initials: A
authors.lastname: Green
authors.forename: M
authors.initials: M
authors.lastname: Kinirons
authors.forename: Y
authors.initials: Y
authors.lastname: O'Meara
authors.forename: J
authors.initials: J
authors.lastname: Donohoe
authors.forename: S
authors.initials: S
authors.lastname: Murphy
authors.forename: M
authors.initials: M
authors.lastname: Carmody
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology; D000328:Adult; D005260:Female; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications* / Q000235:genetics / Q000473:pathology; D007679:Kidney Medulla / Q000473:pathology; D015493:Paraparesis, Tropical Spastic / Q000150:complications*