Clinical and pathological features of a neonate with autosomal recessive polycystic kidney disease caused by a nonsense PKHD1 mutation

Xi-Hui Zhou, Zhi-Yan Hui, Yuan Li

Xi'an, China

Author Affiliations: Department of Neonatology, the First Affiliated Hospital, Medical School of Xi an Jiaotong University/Ion Channel Disease Laboratory, Key Laboratory of Environment and Genes Related to Diseases, Ministry of Education, Xi'an 710061, China (Zhou XH, Hui ZY, Li Y)

Corresponding Author: Xi-Hui Zhou, MD, Department of Neonatology, First Affiliated Hospital, Medical College of Xi'an Jiaotong University, Xi'an 710061, China (Email: zhouxih@mail.xjtu.edu.cn)

doi: 10.1007/s12519-013-0407-3

Background: Autosomal recessive polycystic kidney disease (ARPKD) is one of the most common hereditary nephropathies in childhood. We report a neonate with ARPKD presenting with oligohydramnios, enlargement and increased echogenicity of both kidneys shown by antenatal sonograms after a 29-week gestation and died within the first few hours of life.

Methods: The neonate was investigated pathologically post-mortem. PCR-DNA direct sequencing was performed to detect the exons of the PKHD1 gene for mutation analysis.

Results: Autopsy findings of the kidney and liver confirmed the diagnostic hypothesis. PKHD1 mutation analysis revealed that there was a homozygous nonsense mutation c.9319C>T (p.R3107X), which was found to be pathogenic, in exon 58 in the neonate.

Conclusions: The recurrence of PKHD1 mutation c.9319C>T (p.R3107X) in the ARPKD population might be a good evidence that it is disease associated. Given the limitations of antenatal ultrasound, PKHD1 mutation analysis is helpful for accurate genetic counseling and early prenatal diagnosis.

Key words: infants; pyelonephritis; vesicoureteral reflux

World J Pediatr 2013;9(1):76-79