Autosomal recessive polycystic kidney disease
Other Names for this Disease
- Polycystic kidney disease, infantile type
kidneys (which lead to kidney failure) and liver and problems in other organs, such as the blood vessels in the brain and heart. The severity varies from person to person. The signs of ARPKD frequently begin before birth, so it is often called “infantile PKD” but some people do not develop symptoms until later in childhood or even adulthood. Children born with ARPKD often, but not always, develop kidney failure before reaching adulthood; babies with the worst cases die hours or days after birth due to respiratory difficulties or respiratory failure. Liver scarring occurs in all patients. The condition is caused by a mutation in the PKHD1 gene and is inherited in an autosomal recessive manner. Some symptoms of the condition may be controlled by medicines, antibiotics, healthy diet, and growth hormones.Autosomal recessive polycystic kidney disease (ARPKD) is a genetic condition that is characterized by the growth of cysts in the
Last updated: 4/24/2011
- Polycystic Kidney Disease. National Kidney and Urologic Diseases Information Clearinghouse (NKUDIC). November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/. Accessed 5/12/2008.
- Polycystic Kidney Disease. NKUDIC. November 2007; http://kidney.niddk.nih.gov/kudiseases/pubs/polycystic/#recessive. Accessed 4/24/2011.
- Genetics Home Reference (GHR) contains information on !the P2RY12 gene!. This website is maintained by the National Library of Medicine.
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- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
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- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
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