Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease

• Published in: Journal of medical genetics Vol. 35; no. 1; pp. 13 - 16
• Main Authors: MacDermot, K D, Saggar-Malik, A K, Economides, D L, Jeffery, S
• Format: Journal Article
• Language: English
• Published: London BMJ Publishing Group Ltd 01-01-1998; BMJ; BMJ Publishing Group LTD
• Subjects: Adult; Age of Onset; Biological and medical sciences; Child, Preschool; Female; Fetus; Genetic Linkage; Humans; Infant; Kidneys; Male; Medical sciences; Middle Aged; Nephrology. Urinary tract diseases; Polycystic Kidney, Autosomal Dominant - diagnosis; Polycystic Kidney, Autosomal Dominant - genetics; Polymerase Chain Reaction - methods; Pregnancy; Prenatal Diagnosis - methods; Prognosis; Proteins - genetics; TRPP Cation Channels; Urinary system involvement in other diseases. Miscellaneous; Kidney disease; Human; Urinary system disease; Prognosis; Family study; Polycystic kidney; Mortality; In utero; Long term; Genetic disease; Case study; Prenatal; Fetal diseases; Genetic counseling; Gene; Autosomal character; DNA; Cyst; Genetics; Dominant character; Benign neoplasm; Diagnosis; Molecular biology
• ISSN: 0022-2593; 1468-6244; 1468-6244
• DOI: 10.1136/jmg.35.1.13

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.