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      Cystic Kidney Diseases From the Adult Nephrologist’s Point of View

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          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.

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          Most cited references58

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          Unruptured intracranial aneurysms: natural history, clinical outcome, and risks of surgical and endovascular treatment.

          The management of unruptured intracranial aneurysms is controversial. Investigators from the International Study of Unruptured Intracranial Aneurysms aimed to assess the natural history of unruptured intracranial aneurysms and to measure the risk associated with their repair. Centres in the USA, Canada, and Europe enrolled patients for prospective assessment of unruptured aneurysms. Investigators recorded the natural history in patients who did not have surgery, and assessed morbidity and mortality associated with repair of unruptured aneurysms by either open surgery or endovascular procedures. 4060 patients were assessed-1692 did not have aneurysmal repair, 1917 had open surgery, and 451 had endovascular procedures. 5-year cumulative rupture rates for patients who did not have a history of subarachnoid haemorrhage with aneurysms located in internal carotid artery, anterior communicating or anterior cerebral artery, or middle cerebral artery were 0%, 2. 6%, 14 5%, and 40% for aneurysms less than 7 mm, 7-12 mm, 13-24 mm, and 25 mm or greater, respectively, compared with rates of 2 5%, 14 5%, 18 4%, and 50%, respectively, for the same size categories involving posterior circulation and posterior communicating artery aneurysms. These rates were often equalled or exceeded by the risks associated with surgical or endovascular repair of comparable lesions. Patients' age was a strong predictor of surgical outcome, and the size and location of an aneurysm predict both surgical and endovascular outcomes. Many factors are involved in management of patients with unruptured intracranial aneurysms. Site, size, and group specific risks of the natural history should be compared with site, size, and age-specific risks of repair for each patient.
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            Polycystic kidney disease.

            A number of inherited disorders result in renal cyst development. The most common form, autosomal dominant polycystic kidney disease (ADPKD), is a disorder most often diagnosed in adults and caused by mutation in PKD1 or PKD2. The PKD1 protein, polycystin-1, is a large receptor-like protein, whereas polycystin-2 is a transient receptor potential channel. The polycystin complex localizes to primary cilia and may act as a mechanosensor essential for maintaining the differentiated state of epithelia lining tubules in the kidney and biliary tract. Elucidation of defective cellular processes has highlighted potential therapies, some of which are now being tested in clinical trials. ARPKD is the neonatal form of PKD and is associated with enlarged kidneys and biliary dysgenesis. The disease phenotype is highly variable, ranging from neonatal death to later presentation with minimal kidney disease. ARPKD is caused by mutation in PKHD1, and two truncating mutations are associated with neonatal lethality. The ARPKD protein, fibrocystin, is localized to cilia/basal body and complexes with polycystin-2. Rare, syndromic forms of PKD also include defects of the eye, central nervous system, digits, and/or neural tube and highlight the role of cilia and pathways such as Wnt and Hh in their pathogenesis.
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              Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease

              In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V2-receptor antagonist tolvaptan slowed the growth in total kidney volume and the decline in the estimated glomerular filtration rate (GFR) but also caused more elevations in aminotransferase and bilirubin levels. The efficacy and safety of tolvaptan in patients with later-stage ADPKD are unknown.
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                Author and article information

                Contributors
                URI : https://frontiersin.org/people/u/129535
                URI : https://frontiersin.org/people/u/164194
                Journal
                Front Pediatr
                Front Pediatr
                Front. Pediatr.
                Frontiers in Pediatrics
                Frontiers Media S.A.
                2296-2360
                22 March 2018
                2018
                : 6
                : 65
                Affiliations
                Department II of Internal Medicine and Center for Molecular Medicine Cologne, University of Cologne , Cologne, Germany
                Author notes

                Edited by: Miriam Schmidts, Radboud University Nijmegen, Netherlands

                Reviewed by: Andrew Mallett, Royal Brisbane and Women’s Hospital, Australia; Cynthia J. Willey, University of Rhode Island, United States; Francois Jouret, University of Liège, Belgium

                *Correspondence: Roman-Ulrich Müller, roman-ulrich.mueller@ 123456uk-koeln.de

                Specialty section: This article was submitted to Pediatric Nephrology, a section of the journal Frontiers in Pediatrics

                Article
                10.3389/fped.2018.00065
                5875104
                29623269
                3711019a-ae4c-412b-89a4-a9e465473ba8
                Copyright © 2018 Müller and Benzing.

                This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

                History
                : 03 December 2017
                : 05 March 2018
                Page count
                Figures: 2, Tables: 1, Equations: 0, References: 69, Pages: 8, Words: 6787
                Funding
                Funded by: Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen 10.13039/501100009591
                Award ID: 2015-2021
                Categories
                Pediatrics
                Mini Review

                polycystic kidney diseases,autosomal dominant polycystic kidney disease,autosomal-recessive polycystic kidney disease,tuberous sclerosis complex,von hippel–lindau disease,nephronophthisis,genetic kidney disease,birt–hogg–dubé syndrome

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