Document Detail

Diagnosis of autosomal dominant polycystic kidney disease in utero and in the young infant.
MedLine Citation:
PMID:  3295293     Owner:  NLM     Status:  MEDLINE    
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.
D H Pretorius; M E Lee; M L Manco-Johnson; G R Weingast; A B Sedman; P A Gabow
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine     Volume:  6     ISSN:  0278-4297     ISO Abbreviation:  J Ultrasound Med     Publication Date:  1987 May 
Date Detail:
Created Date:  1987-06-29     Completed Date:  1987-06-29     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  8211547     Medline TA:  J Ultrasound Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  249-55     Citation Subset:  IM    
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MeSH Terms
Fetal Diseases / diagnosis*
Infant, Newborn
Kidney / pathology
Polycystic Kidney Diseases / diagnosis*,  genetics
Pregnancy Complications / diagnosis
Grant Support

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