Polycystic Kidney Disease, Autosomal Recessive
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Polycystic Kidney Disease, Autosomal Recessive is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
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.
March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
American Kidney Fund, Inc.
6110 Executive Boulevard
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
8330 Ward Parkway
Kansas City, MO 64114-2000
NIH/National Kidney and Urologic Diseases Information Clearinghouse
3 Information Way
Bethesda, MD 20892-3580
Children's Liver Disease Foundation
36 Great Charles Street
Birmingham, Intl B3 3JY
Tel: +44 (0) 121 212 3839
Fax: +44 (0) 121 212 4300
National Hypertension Association, Inc.
324 East 30th Street
New York, NY 10016
PO Box 70
Kirkwood, PA 17536
Birth Defect Research for Children, Inc.
976 Lake Baldwin Lane
Orlando, FL 32814
MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Kidney & Urology Foundation of America, Inc.
2 West 47th Street
New York, NY 10036
Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
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The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.
It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email email@example.com
Last Updated: 4/13/2011
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