Publication Date

2-1-2023

Journal

Clinical Case Reports

DOI

10.1002/ccr3.6692

PMID

36846174

PMCID

PMC9950036

PubMedCentral® Posted Date

2-23-2023

PubMedCentral® Full Text Version

Post-print

Published Open-Access

yes

Abstract

We present a fetus with bilaterally enlarged and echogenic kidneys. Prenatal testing detected compound heterozygosity for a 0.676 Mb de novo deletion and an inherited pathogenic variant in PKHD1. This is the first case of autosomal recessive polycystic kidney disease (ARPKD) with a prenatally detected disease‐causing PKHD1 deletion.

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