Prag. Polycystic kidney disease: ARPKD & ADPKD. Max Christoph Liebau
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1 Prag Polycystic kidney disease: ARPKD & ADPKD Max Christoph Liebau Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne Glasgow, 06th of September 2017
2 Cystic kidney diseases What are we talking about?
3 Cystic kidney diseases What are we talking about? A cyst is a fluid filled cavity lined with epithelium.
4 Kidney cyst Cystic kidney
5 Cystic kidney diseases What are we talking about? Genetic cystic kidney diseases are considered to be ciliopathies and as such are systemic disorders. Cysts are bilateral.
6 In children with a cyst, always consider a cystic kidney disease as a differential diagnosis.
7 Polycystic kidney disease Liebau & Serra Pediatr Nephrol, 2013
8 As frequently seen in medicine, the recessive form of the disease is less common but more severe. While ADPKD usually does not show any clinical symptoms perceived by the patient until well into adulthood, ARPKD is mainly a pediatric disorder.
9 ARPKD 1:20.000
10 ARPKD 1: One main gene PKHD1 encoding the ciliary protein Fibrocystin Igarashi and Somlo, JASN, 2002
11 ARPKD 1: One main gene PKHD1 encoding the ciliary protein Fibrocystin Massively enlarged kidneys Liebau and Serra, Ped Neph, 2013
12 ARPKD 1: One main gene PKHD1 encoding the ciliary protein Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement CHF Ebner and Liebau, Der Nephologe 2014
13 The hepatic and the renal phenotype may differ widely in ARPKD.
14 The hepatic and the renal phenotype may differ widely in ARPKD. ARPKD is one of the two main indications for pediatric CLKTx.
15 The hepatic and the renal phenotype may differ widely in ARPKD. ARPKD is one of the two main indications for pediatric CLKTx. In a patient with ARPKD and fever, always consider cholangitis as a differential diagnosis.
16 ARPKD 1: One main gene PKHD1 encoding the ciliary protein Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement CHF Pulmonary hypoplasia Ebner and Liebau, Der Nephologe 2014
17 ARPKD 1: One main gene PKHD1 encoding the ciliary protein Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement CHF Pulmonary hypoplasia Hypertension, Hyponatremia Ebner and Liebau, Der Nephologe 2014
18 ARPKD 1: One main gene PKHD1 encodes Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement - CHF Pulmonary hypoplasia Hypertension, Hyponatremia Variable clinical courses,
19 ARPKD-like phenotype and genetic heterogeneity Lu et al. Nat Genet, 2017
20 ARPKD-like phenotype and genetic heterogeneity Guay-Woodford et al. J Peds, 2014
21 ARPKD 1: One main gene PKHD1 encodes Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement - CHF Pulmonary hypoplasia Hypertension, Hyponatremia Variable clinical courses,
22 ARPKD previous work Guay-Woodford and Desmond, Pediatrics 2003 Bergmann et al., Kidney Int 2006
23 ARPKD 1: One main gene PKHD1 encodes Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement - CHF Pulmonary hypoplasia Hypertension, Hyponatremia Variable clinical courses, no targeted therapy,
24 ARPKD 1: One main gene PKHD1 encodes Fibrocystin Massively enlarged kidneys Obligatory hepatic involvement - CHF Pulmonary hypoplasia Hypertension, Hyponatremia Variable clinical courses, no targeted therapy, no established primary endpoint for clinical trials.
25 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Guay-Woodford et al., J Peds 2014
26 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy
27 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy Neonatal Evidence for benefit of Nephrectomy is weak.
28 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy Neonatal Renal Evidence for benefit of Nephrectomy is weak. Blood pressure control ACE-Inhibition Hyponatremia
29 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy Neonatal Renal Hepatic Evidence for benefit of Nephrectomy is weak. Blood pressure control ACE-Inhibition Hyponatremia Watch out for cholangitis especially after KTx Watch out for portal hypertension in childhood
30 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy Neonatal Renal Hepatic
31 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy Neonatal Renal Hepatic more evidence needed
32 ARPKD - therapy Clinical consensus guidelines meeting in Washington in 2013 Symptomatic therapy Neonatal Renal Hepatic more evidence needed
33 ARegPKD - Aim: establish a deeply phenotyped cohort with evaluation of longterm clinical courses and current treatment approaches to lay the foundation for the potential identification of clinical and biochemical risk markers, markers of progression etc.
34 ARegPKD - Aim: establish a deeply phenotyped cohort with evaluation of longterm clinical courses and current treatment approaches to lay the foundation for the potential identification of clinical and biochemical risk markers, markers of progression etc. - Supported by the GPN, the ESPN, the ESCAPE network and the German PKD foundation, close collaboration with initiatives in the USA and the UK.
35 Ebner et al., BMC Nephrology, 2015
36 ARegPKD 94 centers in 23 countries Ebner et al., Frontiers in Pediatrics, 2017
37 Ebner et al., Frontiers in Pediatrics, 2017
38 Ebner et al., Frontiers in Pediatrics, 2017
39 Ebner et al., Frontiers in Pediatrics, 2017
40
41 ADPKD 1:500-1:1000
42 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Igarashi and Somlo, JASN, 2002
43 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Bilateral cystic kidneys Liebau and Serra, Ped Neph, 2013
44 Kidney cyst Cystic kidney
45 Kidney cyst or cystic kidney? Ravine criteria for at-risk individuals Pei et al., JASN, 2009
46 Kidney cyst or cystic kidney? Ravine criteria for at-risk individuals Three cysts (unilateral or bilateral) are sufficient to diagnose ADPKD in at-risk individuals aged yrs. Pei et al., JASN, 2009
47 Kidney cyst or cystic kidney? Ravine criteria for at-risk individuals Three cysts (unilateral or bilateral) are sufficient to diagnose ADPKD in at-risk individuals aged yrs. The presence of two cysts in each kidney can be regarded as sufficient for diagnosis of at-risk individuals aged 40 to 59 yrs. Pei et al., JASN, 2009
48 Kidney cyst or cystic kidney? Ravine criteria for at-risk individuals Three cysts (unilateral or bilateral) are sufficient to diagnose ADPKD in at-risk individuals aged yrs. The presence of two cysts in each kidney can be regarded as sufficient for diagnosis of at-risk individuals aged 40 to 59 yrs. For at-risk individuals aged 60 yr, in whom renal cysts are numerous in both PKD1 and PKD2 and among whom simple cysts are frequently found, the stringent criterion of four or more cysts in each kidney is required for diagnosis. Pei et al., JASN, 2009
49 Kidney cyst or cystic kidney? Ravine criteria for at-risk individuals Three cysts (unilateral or bilateral) are sufficient to diagnose ADPKD in at-risk individuals aged yrs. The presence of two cysts in each kidney can be regarded as sufficient for diagnosis of at-risk individuals aged 40 to 59 yrs. For at-risk individuals aged 60 yr, in whom renal cysts are numerous in both PKD1 and PKD2 and among whom simple cysts are frequently found, the stringent criterion of four or more cysts in each kidney is required for diagnosis. A normal ultrasound in childhood does not exclude ADPKD. Pei et al., JASN, 2009
50 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Bilateral cystic kidneys Hepatic cysts
51 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Bilateral cystic kidneys Hepatic cysts Pain
52 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Bilateral cystic kidneys Hepatic cysts Pain..
53 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Bilateral cystic kidneys Hepatic cysts Pain.. Variable courses
54 ARPKD-ADPKD overlap
55 ARPKD-ADPKD overlap - Some ARPKD patients present late - Some ADPKD patients present early
56 ARPKD-ADPKD overlap Bergmann et al., JASN 2011
57 ADPKD 1:500-1:1000 Three genes, PKD1, PKD2, GANAB Bilateral cystic kidneys Hepatic cysts Pain.. Multiple clinical studies
58 ADPKD Renal survival
59 MRI changes in childhood 13 years 17 years
60 ADPKD CRISP data Grantham et al., NEJM 2006
61 ADPKD CRISP data: Big is bad! Grantham et al., NEJM 2006
62 Genotype-Phenotype correlation Hwang et al., JASN, 2016
63 ADPKD Therapy
64 ADPKD-associated signaling Liebau and Bergmann, 2016 In Schaefer/Geary Pediatric Kidney Disease 2nd edition
65 ADPKD Tolvaptan Torres et al., NEJM 2012
66 Tolvaptan in children? Ped Neph, 2017
67 ADPKD HALT PKD Activation of an intrarenal RAS has been suggested.
68 ADPKD HALT PKD Activation of an intrarenal RAS has been suggested. Kidneys of hypertensive patients grow faster than kidneys of normotensive patients.
69 Halt-PKD-Studies NEJM 2014
70 ADPKD hypertension in children ABDM required around 30% non-dippers (ADPKiD)
71 ADPKD hypertension in children ABDM required around 30% non-dippers (ADPKiD) Kidneys of hypertensive children with ADPKD are bigger than kidneys of normotensive ADPKD children. Cadnapaphornchai et al., CJASN 2009
72 Screen for ADPKD in children?
73 Screen for ADPKD in children? - Ethical considerations - Early therapy? - Does diagnosis make a difference for patient treatment? What is the benefit for a specific patient?
74 ADPedKD
75 ADPedKD - A web-based registry for pediatric ADPKD - Joint project with Djalila Mekahli, Stehanie De Rechter, Leuven - Aim: generate observational evidence for pediatric risk score - Assess effects of early treatment
76 ADPedKD - A web-based registry for pediatric ADPKD - Joint project with Djalila Mekahli, Stehanie De Rechter, Leuven - Aim: generate observational evidence for pediatric risk score - Assess effects of early treatment - Supported by ESPN, ERA-EDTA, PKD international - Positive decision of Ethics committee - First patients included -
77 Summary ARPKD and ADPKD are the main forms of PKD.
78 Summary ARPKD and ADPKD are the main forms of PKD. ADPKD is classically presenting in adulthood, while ARPKD usually becomes clinically relevant in childhood and adolescence.
79 Summary ARPKD and ADPKD are the main forms of PKD. ADPKD is classically presenting in adulthood, while ARPKD usually becomes clinically relevant in childhood and adolescence. There are currently no established causative treatment options for pediatric cystic kidney diseases. Treatment remains symptomatic. Blood pressure control is crucial.
80 Summary ARPKD and ADPKD are the main forms of PKD. ADPKD is classically presenting in adulthood, while ARPKD usually becomes clinically relevant in childhood and adolescence. There are currently no established causative treatment options for pediatric cystic kidney diseases. Treatment remains symptomatic. Blood pressure control is crucial. For ARPKD expert opinion recommendations have been established.
81 Summary ARPKD and ADPKD are the main forms of PKD. ADPKD is classically presenting in adulthood, while ARPKD usually becomes clinically relevant in childhood and adolescence. There are currently no established causative treatment options for pediatric cystic kidney diseases. Treatment remains symptomatic. Blood pressure control is crucial. For ARPKD expert opinion recommendations have been established. For ADPKD various trials have been performed and multiple clinical studies are ongoing. There are first pediatric studies.
82 Summary ARPKD and ADPKD are the main forms of PKD. ADPKD is classically presenting in adulthood, while ARPKD usually becomes clinically relevant in childhood and adolescence. There are currently no established causative treatment options for pediatric cystic kidney diseases. Treatment remains symptomatic. Blood pressure control is crucial. For ARPKD expert opinion recommendations have been established. For ADPKD various trials have been performed and multiple clinical studies are ongoing. There are first pediatric studies. Both ARPKD and ADPKD are systemic disorders. Patientns benefit from interdisciplinary treatment.
83 Thank you AG Liebau Dr. Claudia Dafinger Dr. Kathrin Burgmaier Sophie Haumann Abdelaziz Akarkach Asem Al-Hamed Amrei Mandel Nora Liekenbroeck Joy Brandt Giulia Berger Büsra Yildirim Bodo Beck Thomas Benzing Carsten Bergmann Reinhard Büttner Jörg Dötsch Lisa Guay-Woodford Rachel Giles Gero von Gersdorff Heike Göbel Dieter Haffner Friedhelm Hildebrandt Thomas Illig Martin Konrad Kevin Kunzmann Djalila Mekahli Dominik Müller Roman Müller Heymut Omran H. Christian Reinhardt Markus Rinschen Moin A. Saleem Anja Sander Franz Schaefer Bernhard Schermer Lutz Weber Steffi Weber Thomas Weimbs Klaus Zerres and many more GPN and ESCAPE centers
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