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

• मुख्य लेखकों: Gregorio Serra (लेखक), Giovanni Corsello (लेखक), Vincenzo Antona (लेखक), Maria Michela D'Alessandro (लेखक), Nicola Cassata (लेखक), Marcello Cimador (लेखक), Mario Giuffrè (लेखक), Ingrid Anne Mandy Schierz (लेखक), Ettore Piro (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2020-10-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: 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...