A Rare Association of Autosomal Recessive Polycystic Kidney (ARPKD) Disease with AV Canal Defect
Journal Title: IP International Journal of Medical Paediatrics and Oncology - Year 2016, Vol 2, Issue 1
Abstract
ARPKD is an autosomal recessive condition characterized by cystic dilations of the renal collecting tubules. The incidence of ARPKD is estimated to be between 1 in 10,000 - 40,000. It is the most common childhood-onset ciliopathy. The majority of patients present in infancy, although presentation can occasionally be as late as early adulthood. Extrarenal manifestations of this disorder include congenital hepatic fibrosis or Caroli disease, which involves non-obstructive dilation of intrahepatic bile ducts. We report a rare association of autosomal recessive polycystic kidney disease (ARPKD) with AV canal defect in a 3month old infant who presented with failure to thrive, abdominal distension and respiratory distress
Authors and Affiliations
Devendra Nema, Rahul Sinha, K. Venkatnarayan, Shamsher Dalal
Keywords
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A Rare Association of Autosomal Recessive Polycystic Kidney (ARPKD) Disease with AV Canal Defect
ARPKD is an autosomal recessive condition characterized by cystic dilations of the renal collecting tubules. The incidence of ARPKD is estimated to be between 1 in 10,000 - 40,000. It is the most common childhood-onset c...