DOI: 10.1055/s-0038-1630468
Zystische Nierenerkrankungen im Kindesalter
Renal cystic diseases in childhoodPublication History
received:
15 July 2010
Accepted after major revision
20 July 2010
Publication Date:
25 January 2018 (online)
Zusammenfassung
Zysten in der kindlichen Niere sind bei einer Vielzahl von Erkrankungen nachweisbar. Sie treten entweder angeboren oder erworben auf, können Teil einer Multiorganerkrankung oder nur auf die Niere beschränkt sein. Ursächlich sind u. a. Mutationen in mehreren Genen, die zu einer Veränderung der Proteinstruktur primärer Zilien und damit zur Entstehung zystischer Nierenerkrankungen führen. Der Familienanamnese und molekulargenetischen Untersuchung kommt neben der Bildgebung eine entscheidende Rolle zu. Sonografisch kann die Diagnose teilweise bereits pränatal gestellt werden. Dabei ist es wichtig, auf eine Beteiligung extrarenaler Organe zu achten. Im Folgenden wird ein Überblick über die Klassifikation, Diagnostik und Therapie zystischer Nierenerkrankungen im Kindesalter gegeben.
Summary
Renal cysts in children can be found in a variety of diseases, which can be congenital or acquired. Renal cysts may be part of a multiorgan disorder or restricted to the kidneys only. Mutations in several genes, which are linked to dysfunctional primary cilia, have been identified to cause renal cystic diseases. Imaging as well as family history and genetic testing play an important role. Renal ultrasound helps to detect and characterize many of the cystic diseases even before birth. The search for extrarenal organ involvement is very important. The aim of this article is to give an overview on classification, diagnostic tools and therapy of renal cystic diseases in childhood.
Literatur
- 1 Avni F, Hall M. Renal cystic diseases in children: new concepts. Pediatr Radiol 2010; 40: 939-946.
- 2 Bellanne-Chantelot C, Clauin S, Chauveau D. et al. Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5. Diabetes 2005; 54 (11) 3126-3132.
- 3 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 (03) 829-848.
- 4 Bottinger EP. Lights on for aminopeptidases in cystic kidney disease. J Clin Invest 2010; 120 (03) 660-663.
- 5 Cadnapaphornchai MA, McFann K, Strain JD. et al. Prospective change in renal volume and function in children with ADPKD. Clin J Am Soc Nephrol 2009; 4 (04) 820-829.
- 6 Fanconi G, Hanharte von AA, Uhlinger E. et al. [Familial, juvenile nephronophthisis (idiopathic parenchymal contracted kidney)]. Helv Paediatr Acta 1951; 6 (01) 1-49.
- 7 Fick-Brosnahan GM, Tran ZV, Johnson AM. et al. Progression of autosomal-dominant polycystic kidney disease in children. Kidney Int 2001; 59 (05) 1654-1662.
- 8 Gagnadoux MF, Bacri JL, Broyer M, Habib R. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity?. Pediatr Nephrol 1989; 3 (01) 50-55.
- 9 Hildebrandt F, Zhou W. Nephronophthisis-associated ciliopathies. J Am Soc Nephrol 2007; 18 (06) 1855-1871.
- 10 Hoefele J, Wolf MT, O’Toole JF. et al. Evidence of oligogenic inheritance in nephronophthisis. J Am Soc Nephrol 2007; 18 (10) 2789-2795.
- 11 Hoskins BE, Cramer CH, Tasic V. et al. Missense mutations in EYA1 and TCF2 are a rare cause of urinary tract malformations. Nephrol Dial Transplant 2008; 23 (02) 777-779.
- 12 Kolatsi-Joannou M, Bingham C, Ellard S. et al. Hepatocyte nuclear factor-1beta: a new kindred with renal cysts and diabetes and gene expression in normal human development. J Am Soc Nephrol 2001; 12 (10) 2175-2180.
- 13 Kuwertz-Broeking E, Brinkmann OA, Von Lengerke HJ. et al. Unilateral multicystic dysplastic kidney: experience in children. BJU Int 2004; 93 (03) 388-392.
- 14 Limwongse C, Cassidy SB. Syndromes and malformations of the urinary tract. Avner ED, Harmon WE, Niaudet P. Pediatric Nephrology. 5th ed. Philadelphia: Lippincott Williams & Wilkins; 2004: 93-121.
- 15 Loken AC, Hanssen O, Halvorsen S, Jolster NJ. Hereditary renal dysplasia and blindness. Acta Paediatr 1961; 50: 177-184.
- 16 Mattioli G, Pini-Prato A, Costanzo S. et al. Nephrectomy for multicystic dysplastic kidney and renal hypodysplasia in children: where do we stand?. Pediatr Surg Int 2010; 26 (05) 523-528.
- 17 Natoli TA, Smith LA, Rogers KA. et al. Inhibition of glucosylceramide accumulation results in effective blockade of polycystic kidney disease in mouse models. Nat Med 2010; 16 (07) 788-792.
- 18 Peters C, Rushton HG. Vesicoureteral reflux associated renal damage: congenital reflux nephropathy and acquired renal scarring. J Urol 2010; 184 (01) 265-273.
- 19 Pohl M, Bhatnagar V, Mendoza S, Nigam S. Toward an etiological classification of developmental disorders of the kidney and upper urinary tract. Kidney Int 2002; 61: 10-19.
- 20 Potter DE, Holliday MA, Piel CF. et al. Treatment of end-stage renal disease in children: a 15-year experience. Kidney Int 1980; 18 (01) 103-109.
- 21 Psooy K. Multicystic dysplastic kidney in the neonate: the role of the urologist. Can Urol Assoc J 2010; 4 (02) 95-97.
- 22 Salomon R, Saunier S, Niaudet P. Nephronophthisis. Pediatr Nephrol 2009; 24 (12) 2333-2344.
- 23 Schreuder MF, Westland R, van Wijk JA. Unilateral multicystic dysplastic kidney: a meta-analysis of observational studies on the incidence, associated urinary tract malformations and the contralateral kidney. Nephrol Dial Transplant 2009; 24 (06) 1810-1818.
- 24 Schrier RW. Renal volume, renin-angiotensin-aldosterone system, hypertension, and left ventricular hypertrophy in patients with autosomal dominant polycystic kidney disease. J Am Soc Nephrol 2009; 20 (09) 1888-1893.
- 25 Senior B, Friedmann I, Braudo JL. Juvenile familial nephropathy with tapetoretinal degeneration. A new oculorenal dystrophy. Am J Ophthalmol 1961; 52: 625-633.
- 26 Serra AL, Poster D, Kistler AD. et al. Sirolimus and kidney growth in autosomal dominant polycystic kidney disease. N Engl J Med 2010; 363 (09) 879-881.
- 27 Smith G, Graham J. Congenital medullary cysts with severe refractory anemia. Am J Dis Child 1945; 69: 369-377.
- 28 Stavrou C, Koptides M, Tombazos C. et al. Autosomal-dominant medullary cystic kidney disease type 1: clinical and molecular findings in six large Cypriot families. Kidney Int 2002; 62 (04) 1385-1394.
- 29 Takiar V, Caplan MJ. Telling kidneys to cease and decyst. Nat Med 2010; 16 (07) 751-752.
- 30 Tee JB, Acott PD, McLellan DH, Crocker JF. Phenotypic heterogeneity in pediatric autosomal dominant polycystic kidney disease at first presentation: a single-center, 20-year review. Am J Kidney Dis 2004; 43 (02) 296-303.
- 31 Ulinski T, Bensman A, Lescure S. [Abnormalities of hepatocyte nuclear factor (HNF)-1beta: biological mechanisms, phenotypes, and clinical consequences]. Arch Pediatr 2009; 16 (07) 1049-1056.
- 32 Ulinski T, Lescure S, Beaufils S. et al. Renal phenotypes related to hepatocyte nuclear factor-1beta (TCF2) mutations in a pediatric cohort. J Am Soc Nephrol 2006; 17 (02) 497-503.
- 33 Veland IR, Awan A, Pedersen LB. et al. Primary cilia and signaling pathways in mammalian development, health and disease. Nephron Physiol 2009; 111 (03) 39-53.
- 34 Vester U, Kranz B, Hoyer PF. The diagnostic value of ultrasound in cystic kidney diseases. Pediatr Nephrol 2010; 25 (02) 231-240.
- 35 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.
- 36 Winyard P, Chitty LS. Dysplastic kidneys. Semin Fetal Neonatal Med 2008; 13 (03) 142-151.
- 37 Woolf AS, Price KL, Scambler PJ, Winyard PJ. Evolving concepts in human renal dysplasia. J Am Soc Nephrol 2004; 15 (04) 998-1007.