Document Detail

Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.
MedLine Citation:
PMID:  9475088     Owner:  NLM     Status:  MEDLINE    
We describe four prenatal diagnoses in a family with autosomal dominant polycystic kidney disease. Two pregnancies were terminated following the detection of enlarged echogenic fetal kidneys with cysts. Histopathological examination confirmed the diagnosis of polycystic kidney disease. Linkage to PKD1 was obtained by the analysis of DNA from relatives in three generations and from paraffin blocks and formalin fixed fetal tissues. Prenatal DNA analysis in subsequent pregnancies identified one unaffected fetus and one fetus carrying the high risk PKD1 allelle. Information on survival and subsequent outcome of PKD cases presenting in utero was requested by this family before prenatal testing was performed. Of 83 reported cases of ADPKD presenting in utero (excluding termination of pregnancy) or in the first few months of life, 43% died before 1 year. Longitudinal follow up of 24 children in two studies showed that 67% of survivors developed hypertension, of whom three had end stage renal failure at a mean age of 3 years.
K D MacDermot; A K Saggar-Malik; D L Economides; S Jeffery
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review    
Journal Detail:
Title:  Journal of medical genetics     Volume:  35     ISSN:  0022-2593     ISO Abbreviation:  J. Med. Genet.     Publication Date:  1998 Jan 
Date Detail:
Created Date:  1998-03-26     Completed Date:  1998-03-26     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985087R     Medline TA:  J Med Genet     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  13-6     Citation Subset:  IM    
Department of Clinical Genetics, Royal Free Hospital School of Medicine, London, UK.
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MeSH Terms
Age of Onset
Child, Preschool
Linkage (Genetics)
Middle Aged
Polycystic Kidney, Autosomal Dominant / diagnosis*,  genetics
Polymerase Chain Reaction / methods
Prenatal Diagnosis / methods*
Proteins / genetics
TRPP Cation Channels
Reg. No./Substance:
0/Proteins; 0/TRPP Cation Channels; 0/polycystic kidney disease 1 protein

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