Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
Neonatal Medicine
;
: 217-222, 2015.
Article
in English
| WPRIM
| ID: wpr-72965
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*).
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Respiratory Insufficiency
/
Autopsy
/
Ultrasonography, Prenatal
/
Gestational Age
/
Polycystic Kidney, Autosomal Recessive
/
Codon, Nonsense
/
Siblings
/
Heterozygote
/
Polycystic Kidney Diseases
/
Leukocytes
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Humans
/
Infant, Newborn
Language:
English
Journal:
Neonatal Medicine
Year:
2015
Type:
Article
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