Medullary cystic disease vs nephronophthisis. A valid distinction?
J. Giangiacomo, P. L. Monteleone and C. L. Witzleben
It has been proposed that medullary cystic disease and nephronophthisis are
distinguishable by the mode of inheritance and the age of onset. The former
is inherited as an autosomal dominant, the latter as an autosomal
recessive, with the onset at the average age of 26.7 years and 10.5 years,
respectively. The present kindred would appear to have a dominant
inheritance and onset at 10.1 years of age. This emphasizes the importance
of examining those families in whom medullary cystic disease is suspected,
prior to genetic consultation.
