Clinical manifestations of autosomal dominant polycystic kidney disease in patients older than 50 years.

The purpose of this study was to define manifestations of autosomal dominant polycystic kidney disease (ADPKD) in older patients with the disease. Fifty-seven subjects age 50 years or more, who were at risk for having inherited the gene for ADPKD, were evaluated for renal size, hypertension, back and abdominal pain, symptoms consistent with urinary tract infection (UTI), hematuria, end-stage renal failure, and liver cysts. The diagnosis of ADPKD was made in 32 of the 57 at-risk subjects (56%). At the time of study, only one patient with the disease was asymptomatic and normotensive and denied any previous symptoms suggestive of the disease. Clinical manifestations of ADPKD in the 31 symptomatic patients were hypertension (69%), a history of back and abdominal pain (47%), symptoms consistent with UTI (41%), hematuria (31%), and end-stage renal failure (47%). Liver cysts were found in 44% of patients. No statistically significant differences in the frequency of any manifestations of ADPKD between men and women were found, although the frequency of symptoms consistent with UTI tended to be higher in women (53%) than in men (27%). Most patients developed symptoms after the age of 40 years. Notably, 31% of the older patients with ADPKD had normal serum creatinine levels. Thus, older subjects with kidney cysts who are at risk to have inherited the gene for ADPKD, should be considered to have the disease even in the presence of well-preserved kidney function. This observation may play an important role in assessing the prognosis of older subjects at risk who have bilateral renal cysts and in genetic counseling of their relatives.