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Evolution of Clinical Signs in Adult-Onset Cystic Disease of the Renal Medulla

[+] Article, Author, and Disclosure Information

Supported by grants HE 11962, HE 13137, and RR-70, U. S. Public Health Service, Washington, D. C.

▸Requests for reprints should be addressed to Kenneth D. Gardner, Jr., M.D., University of Hawaii School of Medicine, 3675 Kilauea Ave., Honolulu, Hawaii 96816

Honolulu, Hawaii; and Stanford, California

Ann Intern Med. 1971;74(1):47-54. doi:10.7326/0003-4819-74-1-47
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Cystic disease of the renal medulla and familial juvenile nephronophthisis, once held to be separate diseases, have been considered a single entity in recent years. Evidence that favors the earlier opinion was obtained in this retrospective and prospective study of two kindreds in whom renal disease characterized by medullary cysts has affected members of three successive generations. In age at onset, duration, and pattern of inheritance the disease is different from that described in most accounts of familial renal disease in which renal medullary cysts are documented. Because of these differences and because separate recognition has significant practical advantages, such as assuring accuracy during genetic counseling of members from affected families, a return to the recognition of adult-onset cystic disease of the renal medulla and familial juvenile nephronophthisis as distinct clinical entities is desirable.





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