Autosomal dominant polycystic kidney disease in young adults

Abstract

Background The clinical manifestations of autosomal dominant polycystic kidney disease (ADPKD) usually appear in adulthood, however pediatric series report a high morbidity. The objective of the study was to analyze the clinical characteristics of ADPKD in young adults. Methods Family history, hypertension, albuminuria, estimated glomerular filtration rate (eGFR) and imaging tests were examined in 346 young adults (18-30 years old) out of 2521 patients in the Spanish ADPKD registry (REPQRAD). A literature review searched for reports on hypertension in series with more than 50 young (age <30 years) ADPKD patients. Results The mean age of this young adult cohort was 25.24 (SD 3.72) years. The mean age at diagnosis of hypertension was 21.15 (SD 4.62) years, while in the overall REPQRAD population was aged 37.6 years. The prevalence of hypertension was 28.03% and increased with age (18-24 years, 16.8%; 25-30 years, 36.8%). Although prevalence was lower in women than in men, the age at onset of hypertension (21 years) was similar in both sexes. Mean eGFR was 108 (SD 21) mL/min/1.73 m(2), 38.0% had liver cysts and 3.45% of those studied had intracranial aneurysms. In multivariate analyses, hematuria episodes and kidney length were independent predictors of hypertension (area under the curve 0.75). The prevalence of hypertension in 22 pediatric cohorts was 20%-40%, but no literature reports on hypertension in young ADPKD adults were found. Conclusions Young adults present non-negligible ADPKD-related morbidity. This supports the need for a thorough assessment of young adults at risk of ADPKD that allows early diagnosis and treatment of hypertension. Lay Summary Impairment of renal function usually develops from the fourth decade of life in autosomal dominant polycystic kidney disease (ADPKD). However, hypertension precedes the onset of renal insufficiency. In published pediatric series, the prevalence of hypertension is 20%-40%. However, clinical information on young adults with ADPKD is scarce. We present the largest cohort of young adults (age 18-30 years) with ADPKD published to date. Prevalence of hypertension is 28% and increases with age, reaching 36.8% in the subgroup aged 25-30 years, despite normal glomerular filtration rate and albuminuria. The prevalence of hypertension is higher in males, but the mean age at diagnosis (21 years) was similar in both sexes. Young adults present non-negligible ADPKD-related morbidity. This supports the need for a thorough assessment that allows early diagnosis and treatment of hypertension, before decline of estimated glomerular filtration rate. Ambulatory blood pressure monitoring may be especially useful in this regard.