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Nephronophthisis and Medullary Cystic Kidney Disease in Children

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Pediatric Nephrology

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Abstract

Nephronophthisis (NPHP) is an autosomal recessive cystic kidney disease that constitutes one of the most frequent genetic causes for end-stage kidney disease (ESKD) in the first three decades of life [47, 68, 69 148].

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  1. Harvard Medical School, Boston, MA, USA

    Friedhelm Hildebrandt

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  1. Friedhelm Hildebrandt
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Editors and Affiliations

  1. Department of Pediatrics, Medical College of Wisconsin, Children’s Research Institute, Children’s Hospital, Health System of Wisconsin, Milwaukee, Wisconsin, USA

    Ellis D. Avner

  2. Boston Children’s Hospital, Harvard Medical School, Boston, Massachusetts, USA

    William E. Harmon

  3. Service de Néphrologie Pédiatrique, Hôpital Necker-Enfants Malades, Université Paris-Descartes, Paris, France

    Patrick Niaudet

  4. Department of Pediatrics, Wakayama Medical University, Wakayama City, Japan

    Norishige Yoshikawa

  5. Division of Nephrology, Bambino Gesù Children’s Hospital – IRCCS, Rome, Italy

    Francesco Emma

  6. Division of Nephrology and Hypertension, The Heart Institute, Cincinnati Children’s Hospital Medical Center, College of Medicine, Cincinnati, Ohio, USA

    Stuart L. Goldstein

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Hildebrandt, F. (2016). Nephronophthisis and Medullary Cystic Kidney Disease in Children. In: Avner, E., Harmon, W., Niaudet, P., Yoshikawa, N., Emma, F., Goldstein, S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-43596-0_31

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