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

• Main Authors: Gregorio Serra (Author), Giovanni Corsello (Author), Vincenzo Antona (Author), Maria Michela D'Alessandro (Author), Nicola Cassata (Author), Marcello Cimador (Author), Mario Giuffrè (Author), Ingrid Anne Mandy Schierz (Author), Ettore Piro (Author)
• Format: Book
• Published: BMC, 2020-10-01T00:00:00Z.
• Subjects: article
• Online Access: 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...