Autosomal recessive polycystic kidney disease: Case report

Abstract

Introduction. Autosomal recessive polycystic kidney disease is the most common heritable cystic renal disease occurring in infancy and childhood. The clinical spectrum of signs and symptoms of this disease is widely variable ranging from perinatal death to a milder progressive form, which cannot be diagnosed until adolescence. Case Outline. A female neonate born in the 35th/36th week of gestation. The findings of all standard medical examinations of the neonate done by the mother were within normal limits. A few days before delivery physicians at a regional medical centre revealed enlarged kidneys and oligohydramnios. The delivery was performed by caesarean section. The vital functions of the newborn were in critical condition so that she was referred to the University Children's Hospital in Belgrade. Soon after admission, despite all undertaken measures, the infant died. Autopsy was done at the Institute of Pathology of the Belgrade Clinical Centre. All findings were typical for autosomal recessive polycystic kidney disease. The kidneys were hugely enlarged, with cystically dilated collecting ducts that almost completely replaced the renal parenchyma. The lungs were mildly hypoplastic. The liver showed dilated portal spaces, with multiple irregularly branching bile ducts. The cause of death was respiratory distress and renal failure. Conclusion. In all cases of congenital anomalies of the kidney with lethal ending it is necessary to perform autopsy and aimed genetic investigation.

Keywords

• autosomal recessive polycystic kidney disease
• PKHD1
• prenatal genetic examination
• ciliopathy