Diagnostic and prognostic implications of autosomal recessive polycystic kidney disease in prenatal care

case study and clinical considerations

Abstract

INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD) is the most frequently observed cystic kidney disease in the prenatal period. Our objective was to describe the prenatal findings of a fetus diagnosed with ARPKD, highlighting their importance for the diagnosis, management, and prognosis of patients. CASE REPORT: The patient was a 16-year-old primigravida whose husband was consanguineous. She was referred for evaluation due to multicystic dysplastic kidneys in the fetus. The examination at 22 weeks revealed enlarged, hyperechoic dysplastic kidneys with cysts, associated with oligohydramnios. The ultrasound at 31 weeks showed reduced thoracic circumference and apparent pulmonary hypoplasia. Fetal magnetic resonance imaging (MRI) revealed similar findings, consistent with ARPKD. The child was born with Potter's facies and a severely distended abdomen, and passed away after birth due to respiratory dysfunction. DISCUSSION: Prenatal identification through ultrasound of the renal characteristics associated with oligohydramnios was crucial for the diagnosis of ARPKD, especially in light of various differential diagnoses. Data from the clinical history and the results of the MRI evaluation were also important for confirming the diagnosis. Additionally, other findings, such as reduced thoracic circumference, assisted in the planning of the birth and determining the severity of the prognosis. CONCLUSION: Our report highlights the importance of prenatal evaluation through ultrasound for the detection of findings that play a crucial role in both the diagnosis of ARPKD and its management and prognosis.