Abstract
Autosomal recessive polycystic kidney disease (ARPKD) is a monogenic disorder that primarily involves mutations in the PKHD1 gene, although rare, atypical forms of ARPKD due to mutations in other genes have recently been described. For years, pediatric nephrologists have directed the clinical management of these patients. However, there is increasing recognition that ARPKD has multisystem effects and a comprehensive care strategy requires a multidisciplinary team. In severely affected infants, the diagnosis is often first suspected by obstetricians based on detection of enlarged, echogenic kidneys and oligohydramnios on prenatal ultrasounds. Neonatologists are central to the care of these infants, who may have respiratory compromise due to pulmonary hypoplasia and massively enlarged kidneys. Variability in the clinical expression of ARPKD liver disease requires pediatric hepatology evaluation and management. Surgical considerations range from the advisability of nephrectomy to relieve mass effects, placement of dialysis access, and kidney and/or liver transplantation. Families of patients with ARPKD also face decisions regarding genetic testing of affected children, testing of asymptomatic siblings, or consideration of preimplantation genetic diagnosis for future pregnancies. These considerations require the expertise of genetic counselors, geneticists, and reproductive endocrinologists. This chapter will discuss the clinical and genetic diagnosis ARPKD, current insights into the genetics and pathobiology of this disorder, management of organ-specific complications, and close with considering future directions for prognostic prediction of disease outcomes and the development of targeted therapies.
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Acknowledgments
MCL is supported by the German Federal Ministry of Research and Education (BMBF grant 01GM1903B, NEOCYST consortium) and the German Research Council (DFG Li 2397 5/1).
LGW is supported by the Polycystic Kidney Disease Research Resource Consortium (NIDDK U54 DK126087), the Clinical and Translational Science Institute at Children’s National (CTSI-CN) (NIH National Center for Advancing Translational Sciences, UL1TR001876), and a philanthropic gift from the Moran Family Foundation. The views expressed in this chapter reflect the personal opinions of the authors and not those of their respective organizations.
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Liebau, M.C., Guay-Woodford, L.M. (2022). Autosomal Recessive Polycystic Kidney Disease. In: Emma, F., Goldstein, S., Bagga, A., Bates, C.M., Shroff, R. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-27843-3_117-2
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DOI: https://doi.org/10.1007/978-3-642-27843-3_117-2
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Autosomal Recessive Polycystic Kidney Disease- Published:
- 30 November 2021
DOI: https://doi.org/10.1007/978-3-642-27843-3_117-2
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Autosomal Recessive Polycystic Kidney Diseases- Published:
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DOI: https://doi.org/10.1007/978-3-642-27843-3_117-1