Variable Clinical Presentations and Renal Outcome in Neonates With Autosomal Recessive Polycystic Kidney Disease

TL;DR

This paper discusses the varied symptoms and kidney outcomes in newborns with a genetic kidney disease called ARPKD.

Contribution

The study contributes three neonatal ARPKD cases, highlighting clinical variability and outcomes from a single center.

Findings

Neonates with ARPKD showed enlarged kidneys, cysts, and liver fibrosis.

Some cases resulted in respiratory issues due to lung underdevelopment.

Early-onset end-stage kidney disease was observed in some patients.

Abstract

Autosomal recessive polycystic kidney disease (ARPKD) is caused by a mutation in the polycystic kidney and hepatic disease-1 (PKHD1) gene and is an important inherited cause of chronic kidney disease in children. The most typical presentations in neonates are massively enlarged kidneys with variable echogenicity, multiple small cysts, and congenital hepatic fibrosis. Potter sequence with pulmonary hypoplasia can present due to oligohydramnios. Severe pulmonary hypoplasia can lead to respiratory insufficiency and perinatal death. Some affected children can develop end-stage renal disease in early childhood or adolescence. Here, we report the clinical presentations, management, and renal outcomes of three neonatal cases of ARPKD from our center.

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