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Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD)

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Pediatric Kidney Disease

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Abstract

Nephronophthisis comprises a clinically and genetically heterogeneous group of autosomal recessive inherited tubulointerstitial diseases. It represents the most frequent genetic cause of end-stage kidney disease in children and young adults. Disease-causing mutations in 25 different genes have been identified to date. 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 syndrome and others.

Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare genetic disorder characterized by a slowly progressive tubulo-interstitial nephropathy leading to end-stage kidney 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 five genes have been identified in which mutations lead to ADTKD: UMOD, REN, MUC1, HNF1B, and SEC61A1.

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Acknowledgements

We would like to graciously acknowledge Andrea Titieni, Joachim Gerß and Carsten Bergmann for their contribution of figures and clinical pictures.

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Authors and Affiliations

  1. Department of General Pediatrics, University Children’s Hospital Muenster, Münster, Germany

    Jens König & Heymut Omran

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  1. Jens König
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  2. Heymut Omran
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Correspondence to Jens König .

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Editors and Affiliations

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

    Franz Schaefer

  2. Emory School of Medicine, Emory University, Atlanta, GA, USA

    Larry A. Greenbaum

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König, J., Omran, H. (2023). Nephronophthisis and Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD). In: Schaefer, F., Greenbaum, L.A. (eds) Pediatric Kidney Disease. Springer, Cham. https://doi.org/10.1007/978-3-031-11665-0_11

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