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Polycystic Kidney Disease: Autosomal Recessive Type

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Atlas of Genetic Diagnosis and Counseling

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Abstract

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).

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Authors and Affiliations

  1. Medical Genetics, Shriners Hospitals for Children, Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, Shreveport, LA, USA

    Harold Chen

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Chen, H. (2017). Polycystic Kidney Disease: Autosomal Recessive Type. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-2401-1_194

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  • DOI: https://doi.org/10.1007/978-1-4939-2401-1_194

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  • Publisher Name: Springer, New York, NY

  • Print ISBN: 978-1-4939-2400-4

  • Online ISBN: 978-1-4939-2401-1

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