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IP International Journal of Medical Paediatrics and Oncology

A Rare Association of Autosomal Recessive Polycystic Kidney (ARPKD) Disease with AV Canal Defect

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Author Details : Devendra Nema, Rahul Sinha, K. Venkatnarayan, Shamsher Dalal

Volume : 2, Issue : 1, Year : 2016

Article Page : 42-45

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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.

Key Words
: Autosomal recessive, AV canal, Cyst, Polycystic

How to cite : Nema D, Sinha R, Venkatnarayan K, Dalal S, A Rare Association of Autosomal Recessive Polycystic Kidney (ARPKD) Disease with AV Canal Defect. IP Int J Med Paediatr Oncol 2016;2(1):42-45

Copyright © 2016 by author(s) and IP Int J Med Paediatr Oncol. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (CC-BY-NC 4.0) (