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KMID : 1039920150220040217
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Neonatal Medicine
2015 Volume.22 No. 4 p.217 ~ p.222
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Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
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Byun Ye-Jee
Do Hyun-Jeong
Oh Seong-Hee
Kim Chong-Jai
Lee Beom-Hee
Kim Gu-Hwan
Lee Byoung-Sop
Kim Ki-Soo
Kim Ai-Rhan
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Abstract
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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*).
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KEYWORD
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Polycystic kidney, Autosomal recessive, PKHD1 gene, Mutation
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