Erkrankungen mit polyzystischer Nierenbeteiligung betreffen einen relevanten Anteil der Patientenschaft in der pädiatrischen Nephrologie. Forschung mit klinischen Fragestellungen auf dem Gebiet der seltenen und mitunter recht variabel verlaufenden autosomal-rezessiven polyzystischen Nierenerkrankung (ARPKD: „autosomal recessive polycystic kidney disease“) erfordert den Zusammenschluss (inter)nationaler betreuender Zentren. Dieser Zusammenschluss, der mit einer europäischen Registerstudie zu ARPKD (ARegPKD) gelang, konnte die Grundlage für eine Reihe von Arbeiten mit der Identifizierung von klinischen, sonografischen und genetischen Risikomarkern bilden. Ein weiterer Schwerpunkt dieses Artikels liegt auf den neuesten Empfehlungen zum Umgang mit Kindern und Jugendlichen mit positiver Familienanamnese für autosomal-dominante polyzystische Nierenerkrankung (ADPKD: „autosomal dominant polycystic kidney disease“). Hierbei müssen bei der Betreuung der Familien sowohl das kindliche Recht auf adäquate medizinische Versorgung als auch das Recht auf Nichtwissen berücksichtigt werden.
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Literatur
1
Reule S,
Sexton DJ,
Solid CA.
et al
ESRD from autosomal dominant polycystic kidney disease in the United States, 2001–2010. Am J Kidney Dis 2014; 64: 592-599
2
Dalgaard OZ.
Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families. Acta Med Scand Suppl 1957; 328: 1-255
3
Willey CJ,
Blais JD,
Hall AK.
et al
Prevalence of autosomal dominant polycystic kidney disease in the European Union. Nephrol Dial Transplant 2017; 32: 1356-1363
4
Solazzo A,
Testa F,
Giovanella S.
et al
The prevalence of autosomal dominant polycystic kidney disease (ADPKD): A meta-analysis of European literature and prevalence evaluation in the Italian province of Modena suggest that ADPKD is a rare and underdiagnosed condition. PloS One 2018; 13: e0190430
5
Hwang Y-H,
Conklin J,
Chan W.
et al
Refining Genotype-Phenotype Correlation in Autosomal Dominant Polycystic Kidney Disease. J Am Soc Nephrol 2016; 27: 1861-1868
7
Marlais M,
Cuthell O,
Langan D.
et al
Hypertension in autosomal dominant polycystic kidney disease: a meta-analysis. Arch Dis Child 2016; 101: 1142-1147
8
Cornec-Le Gall E,
Torres VE,
Harris PC.
Genetic Complexity of Autosomal Dominant Polycystic Kidney and Liver Diseases. J Am Soc Nephrol 2018; 29: 13-23
9
Bergmann C.
ARPKD and early manifestations of ADPKD: the original polycystic kidney disease and phenocopies. Pediatr Nephrol Berl Ger 2015; 30: 15-30
10
Gimpel C,
Bergmann C,
Bockenhauer D.
et al
International consensus statement on the diagnosis and management of autosomal dominant polycystic kidney disease in children and young people. Nat Rev Nephrol 2019; 15: 713-726
13
Gimpel C,
Bergmann C,
Mekahli D.
The wind of change in the management of autosomal dominant polycystic kidney disease in childhood. Pediatr Nephrol 2022; 37: 473-487
14
Cadnapaphornchai MA,
McFann K,
Strain JD.
et al
Increased left ventricular mass in children with autosomal dominant polycystic kidney disease and borderline hypertension. Kidney Int 2008; 74: 1192-1196
15
Seeman T,
Dusek J,
Vondrichová H.
et al
Ambulatory blood pressure correlates with renal volume and number of renal cysts in children with autosomal dominant polycystic kidney disease. Blood Press Monit 2003; 08: 107-110
16
Cadnapaphornchai MA,
Masoumi A,
Strain JD.
et al
Magnetic resonance imaging of kidney and cyst volume in children with ADPKD. Clin J Am Soc Nephrol 2011; 06: 369-376
18 ESCAPE Trial Group
Wühl E,
Trivelli A.
et al
Strict blood-pressure control and progression of renal failure in children. N Engl J Med 2009; 361: 1639-1650
19
Irazabal MV,
Rangel LJ,
Bergstralh EJ.
et al
Imaging classification of autosomal dominant polycystic kidney disease: a simple model for selecting patients for clinical trials. J Am Soc Nephrol 2015; 26: 160-172
20
Gansevoort RT,
Arici M,
Benzing T.
et al
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice. Nephrol Dial Transplant 2016; 31: 337-348
21
Müller R-U,
Messchendorp AL,
Birn H.
et al
An update on the use of tolvaptan for ADPKD: Consensus statement on behalf of the ERA Working Group on Inherited Kidney Disorders (WGIKD), the European Rare Kidney Disease Reference Network (ERKNet) and Polycystic Kidney Disease International (PKD-International). Nephrol Dial Transplant 2021: gfab312
22
Janssens P,
Weydert C,
De Rechter S.
et al
Expanding the role of vasopressin antagonism in polycystic kidney diseases: From adults to children?. Pediatr Nephrol Berl Ger 2018; 33: 395-408
23
Gilbert RD,
Evans H,
Olalekan K.
et al
Tolvaptan treatment for severe neonatal autosomal-dominant polycystic kidney disease. Pediatr Nephrol Berl Ger 2017; 32: 893-896
24
De Rechter S,
Bockenhauer D,
Guay-Woodford LM.
et al
ADPedKD: A Global Online Platform on the Management of Children With ADPKD. Kidney Int Rep 2019; 04: 1271-1284
26
Büscher R,
Büscher AK,
Weber S.
et al
Clinical manifestations of autosomal recessive polycystic kidney disease (ARPKD): kidney-related and non-kidney-related phenotypes. Pediatr Nephrol Berl Ger 2014; 29: 1915-1925
28
Gunay-Aygun M,
Avner ED,
Bacallao RL.
et al
Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis: summary statement of a first National Institutes of Health/Office of Rare Diseases conference. J Pediatr 2006; 149: 159-164
30
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
31
Ward CJ,
Hogan MC,
Rossetti S.
et al
The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 2002; 30: 259-269
32
Onuchic LF,
Furu L,
Nagasawa Y.
et al
PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like plexin-transcription-factor domains and parallel beta-helix 1 repeats. Am J Hum Genet 2002; 70: 1305-1317
33
Ebner K,
Zerres K,
Liebau MC.
Aktuelle Forschung auf dem Gebiet der seltenen Nierenerkrankungen am Beispiel der Autosomal Rezessiven Polyzystischen Nierenerkrankung. Nieren- Hochdruckkrankheiten 2016; 45: 425-431
34
Burgmaier K,
Brinker L,
Erger F.
et al
Refining genotype-phenotype correlations in 304 patients with autosomal recessive polycystic kidney disease and PKHD1 gene variants. Kidney Int 2021; 100: 650-659
35
Burgmaier K,
Kunzmann K,
Ariceta G.
et al
Risk Factors for Early Dialysis Dependency in Autosomal Recessive Polycystic Kidney Disease. J Pediatr 2018; 199: 22-28e6
36
Burgmaier K,
Ariceta G,
Bald M.
et al
Severe neurological outcomes after very early bilateral nephrectomies in patients with autosomal recessive polycystic kidney disease (ARPKD). Sci Rep 2020; 10: 16025
37
Burgmaier K,
Kilian S,
Arbeiter K.
et al
Early childhood height-adjusted total kidney volume as a risk marker of kidney survival in ARPKD. Sci Rep 2021; 11: 21677
