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Fetopathology and developmental pathology of the embryo and fetus
Marta Ježová, Josef Feit et al.
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Autosomal dominant polycystic kidney disease in infant and fetus
Introduction

ADPKD is typically diagnosed in adults but may be rarely recognized in an infant or even fetus (early-onset disease). Involvement of glomeruli and formation of glomerulal cysts predominante which is in contrast with histological findings in late-onset disease.

Etiology
  • Early-onset form of ADPKD is associated with mutations in gen PKD 1 (chromosome 16).
  • The pattern of inheritance is autosomal dominant.
Clinical signs
  • The manifestation of early onset disease includes oligohydramnion, Potter sequence, end-stage renal failure and early-onset hypertension.
  • The prognosis of early-onset disease is poor. Nearly 45% of cases presenting in utero or in the early postnatal period die before 1 year of age. The survivors develope hypertension at a mean age of 3 years and some of them rapidly progress to end-stage renal failure.
  • The recognition of the dominant polycystic kidneys in a newborn or fetus may antedate the clinical onset of the disease in a parent.
Macroscopic appearance
  • Nephromegaly.
  • Sonograpic findings: moderately enlarged kidneys, increased corticomedullar difference (hyperechogenic cortex, hypoechogenic medulla). Less often obvious cysts.

ADPKD (72881)

ADPKD, detail of the kidney (72882)

Pictures

21-week fetus, nephromegaly (double the normal size), early onset ADPKD: Polycystic kidney, fetus, Macro, autopsy (72880) Polycystic kidney, fetus, Macro, autopsy (72881)

Polycystic kidney, cross section: Polycystic kidney, fetus, Macro, autopsy (72882)

Histology

Plentiful cysts wich represent dilated Bowmans spaces of glomeruli. Glomerulal tufts clearly seen in some of the cyst walls.

Pictures

ADPKD with glomerulal cysts: Autosomal dominant polycystosis of the kidney, HE 20x (72805)