Autosomal recessive polycystic kidney disease: case report of a newborn with rare PKHD1 mutation, rapid renal enlargement and early fatal outcome

INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD; MIM#263200) is one of the most frequent pediatric renal cystic diseases, with an incidence of 1:20,000. It is caused by mutations of the PKHD1 gene, on chromosome 6p12. The clinical spectrum is highly variable, ranging from late-ons...

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Detalles Bibliográficos
Publicado en:Ital J Pediatr
Main Authors: Serra, Gregorio, Corsello, Giovanni, Antona, Vincenzo, D’Alessandro, Maria Michela, Cassata, Nicola, Cimador, Marcello, Giuffrè, Mario, Schierz, Ingrid Anne Mandy, Piro, Ettore
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2020
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC7560064/
https://ncbi.nlm.nih.gov/pubmed/33059727
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00922-4
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