Pädiatrie up2date, Table of Contents Pädiatrie up2date 2014; 09(02): 151-180DOI: 10.1055/s-0034-1365722 Varia © Georg Thieme Verlag KG Stuttgart · New York Zystische Nierenerkrankungen und Ziliopathien Carsten Bergmann Recommend Article Abstract Buy Article All articles of this category Full Text References Literatur 1 Harris PC, Torres VE. Polycystic kidney disease. Annu Rev Med 2009; 60: 321-337 2 Badano JL, Mitsuma N, Beales PL et al. The ciliopathies: an emerging class of human genetic disorders. Annu Rev Genomics Hum Genet 2006; 7: 125-148 3 Rosenbaum JL, Witman GB. Intraflagellar transport. Nat Rev Mol Cell Biol 2002; 3: 813-825 4 Bergmann C. Ciliopathies. Eur J Pediatr 2012; 171: 1285-1300 5 Hildebrandt F, Benzing T, Katsanis N. Ciliopathies. N Engl J Med 2011; 364: 1533-1543 6 Drenth JP, Chrispijn M, Bergmann C. Congenital fibrocystic liver diseases. Best Pract Res Clin Gastroenterol 2010; 24: 573-584 7 Harris PC, Rossetti S. Molecular diagnostics for autosomal dominant polycystic kidney disease. Nat Rev Nephrol 2010; 6: 197-206 8 Cornec-Le Gall E, Audrezet MP, Chen JM et al. Type of PKD1 mutation influences renal outcome in ADPKD. J Am Soc Nephrol 2013; 24: 1006-1013 9 Bergmann C, Zerres K. Early manifestations of polycystic kidney disease. Lancet 2007; 369 : 2157 10 Bergmann C, von Bothmer J, Bruchle N et al. Mutations in multiple PKD genes may explain early and severe polycystic kidney disease. J Am Soc Nephrol 2011; 22: 2047-2056 11 Rossetti S, Kubly VJ, Consugar MB et al. Incompletely penetrant PKD1 alleles suggest a role for gene dosage in cyst initiation in polycystic kidney disease. Kidney Int 2009; 75: 848-855 12 Torres VE, Harris PC. Autosomal dominant polycystic kidney disease: the last 3 years. Kidney Int 2009; 76: 149-168 13 Pei Y, Obaji J, Dupuis A et al. Unified criteria for ultrasonographic diagnosis of ADPKD. J Am Soc Nephrol 2009; 20: 205-212 14 Ravine D, Gibson RN, Walker RG et al. Evaluation of ultrasonografic diagnostic criteria for autosomal dominant polycystic kidney disease 1. Lancet 1994; 343: 824-827 15 Torres VE. Treatment strategies and clinical trial design in ADPKD. Adv Chronic Kidney Dis 2010; 17: 190-204 16 Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 2007; 18: 1855-1871 17 Torres VE, Chapman AB, Devuyst O et al. Tolvaptan in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2012; 367 2407 124-128 18 Hogan MC, Masyuk TV, Page LJ et al. Randomized clinical trial of long-acting somatostatin for autosomal dominant polycystic kidney and liver disease. JASN 2010; 21: 1052-1061 19 Serra Al, Poster D, Kistler AD et al. Sirolimus and kidney growth in autosomal dominant kidney disease. N Engl J Med 2010; 363 : 820-819 20 Walz G, Budde K, Mannaa M et al. Everolimus in patients with autosomal dominant polycystic kidney disease. N Engl J Med 2010; 363: 830-840 21 Adeva M, El-Youssef M, Rossetti S. Clinical and molecular characterization defines a broadened spectrum of autosomal recessive polycystic kidney disease (ARPKD). Medicine (Baltimore) 2006; 85: 1-21 22 Bergmann C, Senderek J, Windelen E et al. Clinical consequences of PKHD1 mutations in 164 patients with autosomal recessive polycystic kidney disease (ARPKD). Kidney Int 2005; 67: 829-848 23 Kuroda N, Ohe C, Mikami S et al. Review of acquired cystic disease-associated renal cell carcinoma with focus on pathobiological aspects. Histol Histopathol 2011; 26: 1215-1218 24 Plotnikova OV, Golemis EA, Pugacheva EN. Cell cycle-dependent ciliogenesis and cancer. Cancer Res 2008; 68: 2058-2061 25 Brancati F, Dallapiccola B, Valente EM. Joubert Syndrome and related disorders. Orphanet J Rare Dis 2010; 5: 20 26 Zaghloul NA, Katsanis N. Mechanistic insights into Bardet-Biedl syndrome, a model ciliopathy. J Clin Invest 2009; 119: 428-437 27 Omran H. Nephronophthis and medullary cystic kidney disease. In: Geary DF, Schaefer F, editors Comprehensive pediatric nephrology. Elsevier; 2008: 143-115 28 Hoff S, Halbritter J, Epting D et al. ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3. Nature genetics 2013; 45: 951-956 29 Xu HW, Yu SQ, Mei CL et al. Screening for intracranial aneurysm in 355 patients with autosomal-dominant polycystic kidney disease. Stroke 2011; 42: 204-206 30 Pirson Y, Chauveau D, Torres V. Management of cerebral aneurysms in autosomal dominant polycystic kidney disease. JASN 2002; 13: 269-276 31 Bergmann C. ARPKD and early manifestations of ADPKD: The original polycystic kidney disease and phenocopies. Pediatr Nephrol 2014;
