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Nephronophthisis and Autosomal Dominant Interstitial Kidney Disease (ADIKD)

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Pediatric Kidney Disease

Abstract

Nephronophthisis comprises a clinically and genetically heterogenous group of autosomal recessive inherited tubulointerstitial cystic disorders. It represents the most frequent genetic cause of end-stage renal disease in children and young adults. Up to date mutations in 18 different genes (NPHP1-18) have been identified. Almost all gene products localize either to primary cilia or the ciliary base which leads to the classification of nephronophthisis as a ciliopathy. Nephronophthisis is often accompanied by anomalies in other organs. Several well described complex clinical syndromes can feature the renal picture of nephronophthisis, including Senior-Løken syndrome, Joubert syndrome, COACH syndrome, Jeune syndrome, Meckel-Gruber syndromea and others. Autosomal dominant interstitial kidney disease (ADIKD) is a rare genetic disorder characterized by a slowly progressive tubulo-interstitial nephropathy leading to end-stage renal disease in late adulthood. Although there is major clinical and histological overlap with nephronophthisis, autosomal dominant inheritance as well as progressive renal failure later in life are two main differences. So far three genes could be identified in which mutations lead to ADIKD: (1) UMOD, (2) REN and (3) MUC1.

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Acknowledgements

We are grateful to Heike Olbrich for preparation of tables and figures and her continuous support.

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Authors and Affiliations

  1. Department of General Pediatrics, University Children’s Hospital Muenster, Albert-Schweitzer-Campus 1, Muenster, 48149, Germany

    Jens König, Beate Ermisch-Omran & Heymut Omran

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  1. Jens König
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  2. Beate Ermisch-Omran
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  3. Heymut Omran
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Correspondence to Heymut Omran .

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Editors and Affiliations

  1. Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada

    Denis F. Geary

  2. Division of Pediatric Nephrology, University of Heidelberg, Heidelberg, Germany

    Franz Schaefer

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König, J., Ermisch-Omran, B., Omran, H. (2016). Nephronophthisis and Autosomal Dominant Interstitial Kidney Disease (ADIKD). In: Geary, D., Schaefer, F. (eds) Pediatric Kidney Disease. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-52972-0_13

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  • DOI: https://doi.org/10.1007/978-3-662-52972-0_13

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