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

• Hoofdauteurs: Gregorio Serra (Auteur), Giovanni Corsello (Auteur), Vincenzo Antona (Auteur), Maria Michela D'Alessandro (Auteur), Nicola Cassata (Auteur), Marcello Cimador (Auteur), Mario Giuffrè (Auteur), Ingrid Anne Mandy Schierz (Auteur), Ettore Piro (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2020-10-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

Abstract 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...