Paediatric kidney disease


Paediatric kidney disease is any type of kidney disease that occurs in patients aged 18 years or under.

Latest Research and Reviews

  • Reviews |

    Dysfunction of endolysosomal pathways can lead to generalized dysfunction of the proximal tubule. Here, De Matteis and colleagues describe the role of the inositol polyphosphate 5-phosphatase, OCRL, in the endolysosomal pathway and how mutations in the encoding gene lead to the clinical manifestations of Lowe syndrome and Dent disease 2.

    • Maria Antonietta De Matteis
    • , Leopoldo Staiano
    • , Francesco Emma
    •  & Olivier Devuyst
  • Reviews |

    Next-generation sequencing has boosted gene discovery and facilitated the identification of previously unrecognized phenotypes associated with kidney disease genes, leading to reclassification of clinical diagnoses and broadening our understanding of the phenotypic spectrum of classic kidney disease-associated genes. Here, the authors discuss examples of genes and gene categories for which genetic studies have led to an expansion in our understanding of their phenotypic spectrums, both across and within current kidney disease categories.

    • Marijn F. Stokman
    • , Kirsten Y. Renkema
    • , Rachel H. Giles
    • , Franz Schaefer
    • , Nine V.A.M. Knoers
    •  & Albertien M. van Eerde
  • Reviews |

    Genetic studies over the past few years have led to the discovery that a monogenic cause of disease can be detected in 20% of individuals with early-onset chronic kidney disease (CKD). In this Review, Vivante and Hildebrandt discuss some of the known single-gene causes of early-onset CKD and the implication of next-generation sequencing for genetic diagnosis. They describe how the discovery of novel causative genes has led to opportunities for delineating the pathomechanisms of disease and potential treatment approaches.

    • Asaf Vivante
    •  & Friedhelm Hildebrandt
  • Reviews |

    Renal transplantation can be successfully performed in patients of all ages, and the short-term and medium-term outcomes have improved over the past decades. In this Review, Christer Holmberg and Hannu Jalanko discuss the long-term effects of kidney transplantation on paediatric recipients. They outline the adverse effects that can occur with regard to growth, bone health, metabolic and cardiovascular complications, and malignancies, and highlight the challenges that remain in managing the care of paediatric renal transplant recipients.

    • Christer Holmberg
    •  & Hannu Jalanko

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