2015
DOI: 10.5385/nm.2015.22.4.217
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Newly DetectedPKHD1Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease

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 significa… Show more

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“…Patient 1-2 and the brief family history was previously reported as a newly detected PKHD1 mutation as a case report in 2015. [ 12 ]…”
Section: Resultsmentioning
confidence: 99%
“…Patient 1-2 and the brief family history was previously reported as a newly detected PKHD1 mutation as a case report in 2015. [ 12 ]…”
Section: Resultsmentioning
confidence: 99%