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May 12, 1975

Medullary Cystic Disease vs NephronophthisisA Valid Distinction?

Author Affiliations

From the departments of pediatrics and pathology, Cardinal Glennon Memorial Hospital for Children, St. Louis University Medical School, and Washington University Medical School, St. Louis. Dr. Giangiacomo is a Research Fellow of the National Kidney Foundation.

JAMA. 1975;232(6):629-631. doi:10.1001/jama.1975.03250060025016

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.

(JAMA 232:629-631, 1975)