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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, Shreveport, LA, USA

    Harold Chen

  2. Perinatal and Clinical Genetics, Department of Pediatrics, LSU Health Sciences Center, 1501 Kings Highway, 71130, Shreveport, LA, USA

    Harold Chen

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  1. Harold Chen
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Correspondence to Harold Chen .

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Chen, H. (2016). Polycystic Kidney Disease: Autosomal Recessive Type. In: Atlas of Genetic Diagnosis and Counseling. Springer, New York, NY. https://doi.org/10.1007/978-1-4614-6430-3_194-2

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  • DOI: https://doi.org/10.1007/978-1-4614-6430-3_194-2

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  • Publisher Name: Springer, New York, NY

  • Online ISBN: 978-1-4614-6430-3

  • eBook Packages: Springer Reference Biomedicine and Life SciencesReference Module Biomedical and Life Sciences

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