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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
Fag:
Case Report
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker