Journal of Ultrasound in Medicine, Vol 6, Issue 5 249-255, Copyright © 1987 by American Institute of Ultrasound in Medicine
Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant
D. H. Pretorius, M. E. Lee, M. L. Manco-Johnson, G. R. Weingast, A. B. Sedman and P. A. Gabow
Autosomal dominant polycystic kidney disease (ADPKD), once thought to be a
disease of the adult, is now being reported with increasing frequency in
childhood. We report five cases and review eight cases from the literature
of ADPKD diagnosed in the fetus or the young infant by sonographic
evaluation and a positive family history. Renal enlargement (85%) was the
most common and most helpful sonographic finding. Approximately 50% of the
patients already had cysts large enough to detect by ultrasound. Increased
renal echogenicity was present in nine of 10 cases. Although every case in
this review had one parent affected with ADPKD, only five of 13 (38%) were
aware of their disease prior to their pregnancy. Renal cystic disease
diagnosed in the fetus and young infant should trigger an investigation of
the family history and sonographic screening.
