Neonatal Med.  2015 Nov;22(4):217-222. 10.5385/nm.2015.22.4.217.

Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

• Byun YJ
• Do HJ
• Oh SH
• Kim CJ
• Lee BH
• Kim GH
• Lee BS
• Kim KS
• Kim AR

• KMID: 2130691
• DOI: http://doi.org/10.5385/nm.2015.22.4.217

Abstract

Autosomal recessive polycystic kidney disease is among the most common inherited ciliopathies and is caused by mutations in the polycystic kidney and hepatic disease 1 (PKHD1) gene. Despite its great phenotypic variability, this condition is usually diagnosed during the neonatal and early infantile periods. We report a 37+3 -gestational-week neonate presenting with fatal autosomal recessive polycystic kidney disease who died at 28 hours of life from severe respiratory failure. The familial history is significant because a previous sibling died in utero at 24+2 weeks of gestational age and was diagnosed with polycystic kidney disease based on prenatal ultrasonography and autopsy. Our patient's autopsy revealed findings compatible with polycystic kidney disease. In addition, a PKHD1 gene study of peripheral blood leukocytes identified the compound heterozygote mutation c.274C>T(p.Arg92Trp), as well as the novel heterozygous nonsense mutation c.2770C>T(p.Gln924*).

Keyword

Polycystic kidney; Autosomal recessive; PKHD1 gene; Mutation

MeSH Terms

Autopsy
Codon, Nonsense
Gestational Age
Heterozygote
Humans
Infant, Newborn*
Leukocytes
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Recessive*
Respiratory Insufficiency
Siblings
Ultrasonography, Prenatal
Codon, Nonsense