Newly Detected PKHD1 Gene Mutation in a Newborn with Fatal Autosomal Recessive Polycystic Kidney Disease
Neonatal Medicine
; : 217-222, 2015.
Article
em En
| WPRIM
| ID: wpr-72965
Biblioteca responsável:
WPRO
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*).
Palavras-chave
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Insuficiência Respiratória
/
Autopsia
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Ultrassonografia Pré-Natal
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Idade Gestacional
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Rim Policístico Autossômico Recessivo
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Códon sem Sentido
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Irmãos
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Heterozigoto
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Doenças Renais Policísticas
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Leucócitos
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Newborn
Idioma:
En
Revista:
Neonatal Medicine
Ano de publicação:
2015
Tipo de documento:
Article