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Polycystic Kidney Disease, Autosomal Recessive

Abstract

You are reading a NORD Rare Disease Report Abstract. NORD’s full collection of reports on over 1200 rare diseases is available to subscribers (click here for details). We are now also offering two full rare disease reports per day to visitors on our Web site.

NORD is very grateful to Peter C. Harris, PhD, Professor Biochemistry/Molecular Biology and Medicine, Division of Nephrology and Hypertension, Mayo Clinic , for assistance in the preparation of this report.

Synonyms of Polycystic Kidney Disease, Autosomal Recessive

  • ARPKD
  • polycystic kidney disease, infantile

Disorder Subdivisions

  • No subdivisions found.

General Discussion

Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder characterized by the formation of fluid-filled sacs (cysts) in the kidneys. Most affected infants have enlarged kidneys during the newborn (neonatal) period and some cases may be fatal at this time. ARPKD is not simply a kidney disease and additional organ systems of the body may also be affected, especially the liver. High blood pressure (hypertension), excessive thirst, frequent urination and feeding difficulties may also occur. Some affected children may also have distinctive facial features and incomplete development of the lungs (pulmonary hypoplasia) causing breathing (respiratory) difficulties. The severity of the disorder and the specific symptoms that occur can vary greatly from one person to another. Some affected children eventually develop end-stage renal disease sometime during the first decade of life. In some cases, symptoms do not develop until adolescence or even adulthood. ARPKD is caused by mutations of the PKHD1 gene.

Organizations related to Polycystic Kidney Disease, Autosomal Recessive

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