Autosomal Recessive Polycystic Kidney Disease Confirmed to<i>PKHD1</i>Gene Mutation: A Case of<i>PKHD1</i>Gene Mutation

Baek, Jae Eun; Lee, Soon Min; Eun, Ho Seon; Park, Min Soo; Park, Kook In; Namgung, Ran; Lee, Chul

doi:10.5385/nm.2014.21.1.64

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2015

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“…A case involving a PKHD1 gene mutation was newly reported in Korea in 2014. This was a frameshift mutation at c.889_931del43, and the patient did not report a family history 20) .…”

Section: Case Reportmentioning

confidence: 93%

Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

Byun

et al. 2015

Neonatal Med

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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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“…A case involving a PKHD1 gene mutation was newly reported in Korea in 2014. This was a frameshift mutation at c.889_931del43, and the patient did not report a family history 20) .…”

Section: Case Reportmentioning

confidence: 93%

Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

Byun

et al. 2015

Neonatal Med

View full text Add to dashboard Cite

show abstract

Autosomal Recessive Polycystic Kidney Disease Confirmed toPKHD1Gene Mutation: A Case ofPKHD1Gene Mutation

Cited by 1 publication

References 13 publications

Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

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