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Autosomal recessive polycystic kidney disease in children

Author
Patrick Niaudet, MD
Section Editor
Tej K Mattoo, MD, DCH, FRCP
Deputy Editor
Melanie S Kim, MD

INTRODUCTION

Although renal cysts are present in a wide variety of renal diseases in children, the term polycystic kidney disease (PKD) is reserved for one of two hereditary conditions:

Autosomal recessive polycystic kidney disease (ARPKD, MIM #263200), previously called infantile polycystic kidney disease, is a recessively inherited disorder characterized by cystic dilations of the renal collecting ducts and developmental defects of hepatobiliary ductal plate remodeling, which result in varying degrees of congenital hepatic fibrosis.

Autosomal dominant polycystic kidney disease (ADPKD) is a dominantly inherited disorder characterized by cystic dilatations in all parts of the nephron. Cysts in the liver, pancreas, and other organs are also common in ADPKD.

The clinical features, diagnosis, and management of ARPKD will be reviewed here. ADPKD and other pediatric renal cystic conditions are discussed separately. (See "Autosomal dominant polycystic kidney disease in children" and "Renal cystic diseases in children".)

EPIDEMIOLOGY

The estimated incidence of autosomal recessive polycystic kidney disease (ARPKD) is 1:20,000 live births [1,2].

                                            

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Literature review current through: Nov 2016. | This topic last updated: Thu Sep 15 00:00:00 GMT 2016.
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