Autosomal recessive polycystic kidney disease (ARPKD) or polycystic kidney and hepatic disease 1 (PKHD1) is an often devastating form of polycystic kidney disease. It is also known as infantile polycystic kidney disease. The incidence of ARPKD is estimated to be 1 in 20,000 live births, and the frequency of the heterozygous carrier state is 1 in 70 (Lonergan et al. 2000).
Synonyms and Related Disorders
Infantile polycystic kidney disease; Polycystic kidney and hepatic disease
Genetics/Basic Defects
- 1.
Inheritance: autosomal recessive
- 2.
No clear evidence of genetic heterogeneity
- 3.
Molecular cause (Harris and Rossetti 2004)
- a.
Mutations in the PKHD1 gene on chromosome 6p21.1-p12, encoding a putative receptor protein, fibrocystin (or polyductin)
- b.
The ARPKD protein, fibrocystin, is predicted to be an integral membrane, receptor-like protein containing multiple copies of an Ig-like domain (TIG).
- c.
Fibrocystin is localized to the branching ureteric bud, collecting and biliary ducts,...
- a.
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References
Bergmann, C., Senderek, J., Sedlacek, B., et al. (2003). Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1). Journal of the American Society of Nephrology, 14, 76–89.
Dell, K. M., Avner, E. D. (2011). Polycystic kidney disease, autosomal recessive. GeneReviews. http://www.ncbi.nlm.nih.gov/books/NBK1326/
Denamur, E., Delezoide, A.-L., Alberti, C., et al. (2010). Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease. Kidney International, 77, 350–358.
Guay-Woodford, L. M., & Desmond, R. A. (2003). Autosomal recessive polycystic kidney disease: The clinical experience in North America. Pediatrics, 111, 1072–1080.
Harris, P. C., & Rossetti, S. (2004). Molecular genetics of autosomal recessive polycystic kidney disease. Molecular Genetics and Metabolism, 81, 75–85.
Herrin, J. T. (1989). Phenotypic correlates of autosomal recessive (infantile) polycystic disease of kidney and liver: Criteria for classification and genetic counseling. Progress in Clinical and Biological Research, 305, 45–54.
Jamil, B., McMahon, L. P., Savige, J. A., et al. (1999). A study of long-term morbidity associated with autosomal recessive polycystic kidney disease. Nephrology, Dialysis, Transplantation, 14, 205–209.
Jung, G., Benz-Bohm, G., Kugel, H., et al. (1999). MR cholangiography in children with autosomal recessive polycystic kidney disease. Pediatric Radiology, 29, 463–466.
Kern, S., Zimmerhackl, L. B., Hildebrandt, F., et al. (1999). Rare-MR-urography–a new diagnostic method in autosomal recessive polycystic kidney disease. Acta Radiologica, 40, 543–544.
Lieberman, E., Salinas-Madrigal, L., Gwinn, J. L., et al. (1971). Infantile polycystic disease of the kidneys and liver: Clinical, pathological and radiological correlations and comparison with congenital hepatic fibrosis. Medicine, 50, 277–318.
Lilova, M., Kaplan, B. S., & Meyers, K. E. (2003). Recombinant human growth hormone therapy in autosomal recessive polycystic kidney disease. Pediatric Nephrology, 18, 57–61.
Lonergan, G. J., Rice, R. R., & Suarez, E. S. (2000). Autosomal recessive polycystic kidney disease: Radiologic-pathologic correlation. Radiographics, 20, 837–855.
MacRae, K., & Avner, E. D. (2009). Polycystic kidney disease, autosomal recessive. GeneReviews. Updated July 14, 2009. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=pkd-ar
Pérez, L., Torra, R., Badenas, C., et al. (1998). Autosomal recessive polycystic kidney disease presenting in adulthood. Molecular diagnosis of the family. Nephrology Dialysis Transplantation, 13, 1273–1276.
Rossetti, S., Torra, R., Coto, E., et al. (2003). A complete mutation screen of PKHD1 in autosomal-recessive polycystic kidney disease (ARPKD) pedigrees. Kidney International, 64, 391–403.
Roy, S., Dillon, M. J., Trompeter, R. S., et al. (1997). Autosomal recessive polycystic kidney disease: Long-term outcome of neonatal survivors. Pediatric Nephrology, 11, 302–306.
Stein-Wexler, R., & Jain, K. (2003). Sonography of macrocysts in infantile polycystic kidney disease. Journal of Ultrasound in Medicine, 22, 105–107.
Sumfest, J. M., Burns, M. W., & Mitchell, M. E. (1993). Aggressive surgical and medical management of autosomal recessive polycystic kidney disease. Urology, 42, 309–312.
Zerres, K., Becker, J., Mucher, G., et al. (1997). Autosomal recessive polycystic kidney disease. Contributions to Nephrology, 122, 10–16.
Zerres, K., Hansmann, M., Mallmann, R., et al. (1988). Autosomal recessive polycystic kidney disease. Problems of prenatal diagnosis. Prenatal Diagnosis, 8, 215–229.
Zerres, K., Mucher, G., Bachner, L., et al. (1994). Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen. Nature Genetics, 7, 429–432.
Zerres, K., Mucher, G., Becker, J., et al. (1998a). Prenatal diagnosis of autosomal recessive polycystic kidney disease (ARPKD): Molecular genetics, clinical experience, and fetal morphology. American Journal of Medical Genetics, 76, 137–144.
Zerres, K., Rudnik-Schoneborn, S., Steinkamm, C., et al. (1998b). Autosomal recessive polycystic kidney disease. Journal of Molecular Medicine, 76, 303–309.
Zerres, K., Rudnik-Schoneborn, S., Senderek, J., et al. (2003). Autosomal recessive polycystic kidney disease (ARPKD). Journal of Nephrology, 16, 453–458.
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(2012). Polycystic Kidney Disease: Autosomal Recessive Type. In: Chen, H. (eds) Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-1037-9_194
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DOI: https://doi.org/10.1007/978-1-4614-1037-9_194
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