Apparent normalisation of fetal renal size in autosomal dominant polycystic kidney disease (PKD1)

• Published in: Clinical genetics Vol. 53; no. 4; pp. 303 - 307
• Main Authors: Jeffery, Steve, Saggar-Malik, Anand K, Economides, Demetrios L, Blackmore, Sally E, MacDermot, Kay D
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.04.1998; Blackwell
• Subjects: Biological and medical sciences; enlarged fetal kidney; Female; fetal PKD1; Follow-Up Studies; Heterozygote; Humans; hyperechogenic fetal kidney; Kidney - diagnostic imaging; Kidney - embryology; Kidneys; Malformations of the urinary system; Medical sciences; Nephrology. Urinary tract diseases; PKD1; Polycystic Kidney, Autosomal Dominant - diagnostic imaging; Polycystic Kidney, Autosomal Dominant - embryology; Polycystic Kidney, Autosomal Dominant - genetics; Pregnancy; Prenatal Diagnosis; Ultrasonography; Sonography; Kidney disease; Human; Urinary system disease; Family study; Polycystic kidney; Size; Standardization; Genetic disease; Case study; Fetal diseases; Autosomal character; Cyst; Echography; Dominant character; Benign neoplasm
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.1998.tb02701.x

We present a family with adult onset autosomal dominant polycystic kidney disease (ADPKD) in two generations, linked to the PKD1 locus and with paternal transmission to the fetus. The fetus carried the PKD1 haplotype and was, therefore a gene carrier. Progressive hyperechogenic renal enlargement, but no cysts, was documented by serial fetal ultrasounds at 21, 23 and 34 weeks of gestation. Surprisingly, the newborn renal scan showed normal sized kidneys with apparently normal corticomedullary differentiation. However, at 11 months of age, the evolution of cysts in one kidney, and then in the other kidney at 20 months, was documented by ultrasound in the absence of clinical symptoms or signs. The observed normalisation of fetal renal ultrasound appearances at birth has not previously been described in fetuses presenting with PKD1.