Abstract
Cystic kidney diseases affect patients of all age groups with the onset spanning from prenatal disease to late adulthood. Autosomal-dominant polycystic kidney disease (ADPKD) is by far the most common renal cystic disease. However, there are various cystic kidney diseases, the onset of which occurs at different times in life and depends on the type of the disease and the causative genes involved. When genetic kidney diseases are discussed in the adult setting this view is usually limited on autosomal-dominant kidney disease, the most frequent genetic disorder causing adult onset ESRD. Other diseases—such as autosomal-recessive polycystic kidney disease—are often being viewed as a disorder only important in pediatric nephrology. However, more recent data has revealed that, despite clear age peaks of onset for each disorder, all of them can also show highly variable phenotypes with classical adult onset genetic diseases being of importance in pediatrics and vice versa. Furthermore, the affected children need to be seen by adult nephrologists in the long term after transition, requiring knowledge on the underlying pediatric disease, potential extrarenal manifestations, and genetic counseling. Consequently, the view on these diseases should be widened on both ends. Close interaction between pediatric and adult nephrology is key to appropriate care of patients suffering from genetic kidney disease to profit from each other’s experience.
Highlights
While pediatric nephrologists are rather experienced in managing patients with genetic kidney diseases, most adult nephrologists are faced with congenital disease less frequently [1, 2]
There has been an enormous breakthrough in the understanding of polycystic kidney diseases both in the adult as well as in the pediatric population
In Autosomal-dominant polycystic kidney disease (ADPKD) this resulted in the development of the first available treatment strategies and the approval of tolvaptan to prevent progression of the disorder
Summary
While pediatric nephrologists are rather experienced in managing patients with genetic kidney diseases, most adult nephrologists are faced with congenital disease less frequently [1, 2]. The introduction of next-generation sequencing techniques in the last decade—starting in basic research and being currently introduced in clinical diagnostics—made the large-scale analysis of potential disease-causing mutations in patients with cystic kidney diseases feasible [3,4,5,6]. Primary cilia may function as chemo- and mechanoreceptors and ciliary dysfunction which initiates numerous signaling aberrations in epithelial kidney cells—like increased cAMP generation or mTOR-signaling—that are crucial to cyst formation [8] This has led to the definition of the cystic disease complex as a ciliopathy. The frequency of ADPKD is comparable to much more commonly known disorders, such as cystic fibrosis or multiple sclerosis It is the most frequent genetic cause of end-stage renal disease in adults with a prevalence of 5–10% in the dialysis population [15]. This may change in the future, e.g., with upcoming clinical trials on drugs such as the V2 receptor antagonist tolvaptan in pediatric cohorts [18]
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