Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease.
- Author:
Ye Jee BYUN
1
;
Hyun Jeong DO
;
Seong Hee OH
;
Chong Jai KIM
;
Beom Hee LEE
;
Gu Hwan KIM
;
Byoung Sop LEE
;
Ki Soo KIM
;
Ai Rhan KIM
Author Information
- Publication Type:Case Report
- Keywords: Polycystic kidney; Autosomal recessive; PKHD1 gene; Mutation
- MeSH: Autopsy; Codon, Nonsense; Gestational Age; Heterozygote; Humans; Infant, Newborn*; Leukocytes; Polycystic Kidney Diseases; Polycystic Kidney, Autosomal Recessive*; Respiratory Insufficiency; Siblings; Ultrasonography, Prenatal
- From:Neonatal Medicine 2015;22(4):217-222
- CountryRepublic of Korea
- Language:English
- 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*).
