Kd. Macdermot et al., PRENATAL-DIAGNOSIS OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (PKD1) PRESENTING IN-UTERO AND PROGNOSIS FOR VERY EARLY-ONSET DISEASE, Journal of Medical Genetics, 35(1), 1998, pp. 13-16
We describe four prenatal diagnoses in a family with autosomal dominan
t polycystic kidney disease. Two pregnancies were terminated following
the detection of enlarged echogenic fetal kidneys with cysts. Histopa
thological examination confirmed the diagnosis of polycystic kidney di
sease. Linkage to PKD1 was obtained by the analysis of DNA from relati
ves in three generations and from paraffin blocks and formalin fixed f
etal tissues. Prenatal DNA analysis in subsequent pregnancies identifi
ed one unaffected fetus and one fetus carrying the high risk PKD1 alle
lle. Information on survival and subsequent outcome of PKD cases prese
nting in utero was requested by this family before prenatal testing wa
s performed. Of 83 reported cases of ADPKD presenting in utero (exclud
ing termination of pregnancy) or in the first few months of Life, 43%
died before 1 year. Longitudinal follow up of 24 children in two studi
es showed that 67% of survivors developed hypertension, of whom three
had end stage renal failure at a mean age of 3 years.