1. Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease.
- Author
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Ye Jee Byun, Hyun-Jeong Do, Seong-Hee Oh, Chong Jai Kim, Beom Hee Lee, Gu-Hwan Kim, Byoung Sop Lee, Ki-Soo Kim, and Ai-Rhan Kim
- Subjects
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AUTOSOMAL recessive polycystic kidney , *GENETIC mutation , *RESPIRATORY insufficiency , *GESTATIONAL age , *LEUCOCYTES , *DIAGNOSIS - 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*). [ABSTRACT FROM AUTHOR]
- Published
- 2015
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