Gene linkage analysis and DNA based detection of autosomal dominant polycystic kidney disease (ADPKD) in a newborn infant. Case report

Alberto E. Turco, Ezio M. Padovani, Bernard Peissel, Gian Paolo Chiaffoni, Sandro Rossetti, Linda Gammaro, Giuseppe Maschio, Pier Franco Pignatti

Research output: Contribution to journalArticlepeer-review


Bilateral polycystic kidneys were detected by ultrasound at 23 weeks gestation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus’ mother and grandmother, suggesting the diagnosis of autosomal dominant polycystic kidney disease (ADPKD). The renal ultrasonograms showed cortical cysts with normal or decreased-sized kidneys. Renal function was normal. Seven available members of the family were genotyped for flanking DNA markers tightly linked to the PKD1 gene on chromosome 16p, and for a polymorphism close to a second putative disease gene (PKD2) on chromosome 2. The genetic linkage approach allowed us to detect with a high degree of accuracy the ADPKD 1 at risk chromosome in the three patients, as well as in a 28-year-old unaffected female. This report illustrates the feasibility and the usefulness of recent molecular genetic strategies for diagnostic purposes in ADPKD, especially when clinical and radiological data are atypical. Furthermore, it also confirms that early or very early onset forms of the disease are not uncommon, and should be considered in the differential diagnosis of childhood cystic disease.

Original languageEnglish
Pages (from-to)205-212
Number of pages8
JournalJournal of Perinatal Medicine
Issue number3
Publication statusPublished - 1995


  • analyse de liaison
  • autosomal dominant polycystic kidney disease
  • autosomal recessive polycystic kidney disease
  • Autosomal-dominante polycystische Nierenerkrankung (ADPKD)
  • autosomal-rezessive polycystische Nierenerkrankung (ARPKD)
  • diagnostic moléculaire
  • DNA polymorphisms
  • DNA-Polymorphismus
  • Kopplungsanalyse
  • linkage analysis
  • molecular diagnosis
  • Molekulargenetik und Diagnostik
  • PCR
  • polykystose rénale autosomique dominante
  • polykystose rénale autosomique récessive
  • polymerase chain reaction
  • Polymerase-Ketten-Reaktion (PCR)
  • polymorphisme de la DNA
  • réaction en chaîne de polymérase

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Pediatrics, Perinatology, and Child Health


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