Autosomal Recessive Polycystic Kidney Disease

Autosomal Recessive (Childhood) Polycystic Kidney Disease 

Updated: 10/01/2021

© Jun Wang, MD, PhD

General features
  • Many patients die shortly after birth
  • Cause of death: Secondary respiratory insufficiency due to pulmonary hypoplasia
  • Prognosis depends on kidney and liver involvements
Key pathogenesis
  • Probably abnormal centromere duplication and mitotic spindle assembly during cell division
  • Developmental defects of collecting ducts
  • Developmental defects of hepatobiliary ductal plate remodeling
key clinical features
  • Presentations associated with kidney and liver dysfunction
  • Oligohydramnios
  • Pulmonary hypoplasia: Respiratory distress
  • Portal hypertension
  • Potter syndrome
Results of severe oligohydramnios
Limb deformities: club feet, hip dislocation, etc
Facial appearances: pseudoepicanthus, recessed chin, posteriorly rotated, flattened ears, and flattened nose
Pulmonary hypoplasia
Laboratory findings:
  • High BUN/Creatinin
  • Hyponatremia: Renal dysfunction
Key pathological findings
  • Kidney
Enlarged kidneys with smooth surface
Cystic dilatation of renal collecting ducts
Dilatation in both cortex and medulla
Cysts lined by flat or cuboidal cells
Dilated channels perpendicular to cortical surface
  • Liver
Congenital hepatic fibrosis in portal area
Increased bile ducts around portal perimeter
  • Pulmonary hypoplasia
Genetic abnormalities
  • PKHD1 mutation: encode polyductin, AKA fibrocystin
Diagnosis
  • Radiologic studies: Markedly enlarged kidneys with poor corticomedullary differentiation
  • Genetic testing: PKHD1 mutation
Differential diagnosis
  • Autosomal dominant polycystic kidney disease: Cystic changes involving other organs, but NO congenital liver fibrosis
  • Glomerulocystic cortical cysts: Associated with tuberous sclerosis, trisomy 13 etc
  • Nephronophthisis: Normal or small sized kidney, NPHP gene mutation, cysts at corticomedullary junction, etc

 

Treatment
  • Perinatal: Prenatal consultation, delivery at places with neonatal intensive care
  • Neonatal: Respiratory stabilization, renal function monitoring, managements for hypertension and hyponatremia, etc
  • Infancy and childhood: Care of renal and hepatic complications



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