GENE LINKAGE ANALYSIS AND DNA-BASED DETECTION OF AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A NEWBORN-INFANT - CASE-REPORT

Bilateral polycystic kidneys were detected by ultrasound at 23 weeks g estation in a male fetus. Bilateral renal cysts were subsequently also found in the asymptomatic propositus' mother and grandmother, suggest ing the diagnosis of autosomal dominant polycystic kidney disease (ADP KD). The renal ultrasonograms showed cortical cysts with normal or dec reased-sized kidneys. Renal function was normal. Seven available membe rs of the family were genotyped for flanking DNA markers tightly linke d to the PKD1 gene on chromosome 16p, and for a polymorphism close to a second putative disease gene (PKD2) on chromosome 2. The genetic lin kage approach allowed us to detect with a high degree of accuracy the ADPKD1 at risk chromosome in the three patients, as well as in a 28-ye ar-old unaffected female. This report illustrates the feasibility and the usefulness of recent molecular genetic strategies for diagnostic p urposes in ADPKD, especially when clinical and radiological data are a typical. 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.