A Primer to Cystic Kidney Diseases and Ciliopathies

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1 A Primer to Cystic Kidney Diseases and Ciliopathies ERKNet Webinar Max Liebau Liebau Pediatric Nephrology, Center for chronically ill children, Center for Molecular Medicine

2 WG CAKUT and Ciliopathies Head of Experimental Pediatric Nephrology Head of Interdisciplinary Center for Chronically Ill Children Department ofpediatricsand Center for Molecular Medicine, University Hospital of Cologne, Germany ERKNet Webinar Liebau PKD and Ciliopathies

3 A cystin a kidney A cyst is a fluid-filled cavity lined with epithelium ERKNet Webinar Liebau PKD and Ciliopathies

4 Kidneycyst Cystickidney ERKNet Webinar Liebau PKD and Ciliopathies

5 ERKNet Webinar Liebau PKD and Ciliopathies Liebau & Serra Pediatr Nephrol, 2013

6 ARPKD ADPKD Main genes PKHD1, DZIP1L PKD1, PKD2, GANAB, DNAJB11 Incidence 1: :500-1:1000 Main clinical manifestations CKD. Arterial hypertension. Hyponatremia. Neonatal respiratory distress/failure due topulmonary hypoplasia. Congenitalhepaticfibrosisand portalhypertension. CKD. Arterialhypertension. Hematuria. UTIs. Pain. Polycystic liver disease. ( ) Risk for siblings 25% 50% (except in cases of spontaneous mutation with virtually no risk) Risk for own children <1% (unless unaffected parent is related to affected partner, or ARPKD is known in the unaffected partner s family) 50% (also for patients with spontaneous mutations) Parental kidneys Noalterations Usually one affected parent (unless parents are <30 yrs or in case of spontaneous mutation) Prognosis ~50% ESRD in first two decades Substantial mortality in patients with neonatal respiratory distress. Severe complications due to portal hypertension. Median ageofesrd: 58 yrs(pkd1) vs. 79 yrs(pkd2) ERKNet Webinar Liebau PKD and Ciliopathies

7 Nephronophthisis Most commongeneticcauseofesrd in thefirstthreedecadesoflife Causedbymutationsin morethan25 genes Classic clinicalpresentationwithpolyuriaand/orlossofgfr in children Hildebrandt et al., JASN ERKNet Webinar Liebau PKD and Ciliopathies

8 ERKNet Webinar Liebau PKD and Ciliopathies Habbig und Liebau, Mol Cell Pediatrics, 2015

9 ERKNet Webinar Liebau PKD and Ciliopathies Clissold et al., Nat Rev Nephrology, 2015

10 Phenocopies Bergmann, Pediatric Nephrology, ERKNet Webinar Liebau PKD and Ciliopathies

11 Helpfulclinicalcriteria Liebau & Serra Pediatr Nephrol, ERKNet Webinar Liebau PKD and Ciliopathies

12 1.) Family history Nephronophthisis, NPH-associatedsyndromes, BBS and ARPKD arerecessive disorders thereistypicallynoprominent familyhistoryofcystickidneys. Askforconsanguinityofparents ADPKD and HNF1ß-associated nephropathyshowa dominant patternof inheritance Spontaneousnovelmutationscanoccurin about10% ofadpkd casesand are even more common in HNF1ß-associated cases ERKNet Webinar Liebau PKD and Ciliopathies

13 2.) Age ofpresentationand kidneyfunction ARPKD istypicallyfoundantenatallyorin thefirstyearsoflife NPH canpresentasan infantile form (veryrare), a juvenile form (most common) or as adolescent NPH (rare) depending on the underlying genetic defects In ADPKD firstcystscanoftenbedetectedduringchildhoodand adolescence. Children may be hypertensive or proteinuric. Kidney function typically starts todeterioratelaterin life ERKNet Webinar Liebau PKD and Ciliopathies

14 3.) Numberofcysts Forpatientswitha positive familyhistoryofadpkd thepei-ravinecriteria define age-dependent numbers of cysts to establish the diagnosis of ADPKD <30 yearsofage: 2 cysts(uni-orbilateral); 30 to59 years: 2 cystsper kidney; >60 years: 4 cysts per kidney(standard ultrasound) Forothercysticdisordersuch criteriahavenot beenestablished. NPH ADPKD ARPKD Liebau and Habbig, DGfN-News ERKNet Webinar Liebau PKD and Ciliopathies Liebau & Serra Pediatr Nephrol, 2013

15 In children with a renal cyst, always consider an underlying cystic kidney disease as a differential diagnosis ERKNet Webinar Liebau PKD and Ciliopathies

16 4.) Localizationofcysts Unilateral bilateral? Multicysticdysplastickidneydiseaseisa common unilateral differential diagnosis in young children. Medulla? Ubiquitous? Cortico-medullaryborder? NPH ADPKD ARPKD Liebau and Habbig, DGfN-News 2015 Liebau & Serra Pediatr Nephrol, ERKNet Webinar Liebau PKD and Ciliopathies

17 5.) Size ofkidneysand ofcysts In ARPKD and in ADPKD kidneysareenlarged. Kidneysin juvenile and adolescentnph arenormal-sizedorsmall. ADPKD presentswithmacrocysts, whilearpkd primarilyshowsmicrocysts NPH Liebau and Habbig, DGfN-News 2015 Liebau & Serra Pediatr Nephrol, ERKNet Webinar Liebau PKD and Ciliopathies

18 6.) Extrarenalsymptoms Extrarenalcanbecrucialforestablishingtheclinicaldiagnosis Examplesinclude: Polycysticliverdiseasein ADPKD, Congenitalhepaticfibrosisin ARPKD, Hexadactylyin BBS Molar Tooth Sign in Joubert s syndrome Retinitis pigmentosa, Situs inversus in NPH-associated diseases ERKNet Webinar Liebau PKD and Ciliopathies

19 6.) Extrarenalsymptoms Courtesy of Thomas of Langmann,Cologne Köln Müller and Liebau, in Nierenerkrankungen des Kindes- und Jugendalters (Dötsch/Weber Hrsg), ERKNet Webinar Liebau PKD and Ciliopathies Ebner et al., Pediatrics Nephrology, 2017

20 Cystic kidney diseases are systemic disorders actively look for extrarenal symptoms! Goetz & Anderson, Nature Reviews Genetics, ERKNet Webinar Liebau PKD and Ciliopathies

21 ERKNet Webinar Liebau PKD and Ciliopathies

22 Cilia Liebau; Front Pediatr, 2014 Pazour et al.; Trends Cell Biol, ERKNet Webinar Liebau PKD and Ciliopathies

23 Nature, ERKNet Webinar Liebau PKD and Ciliopathies

24 WT TG737(=IFT88) -/- J Cell Biol, ERKNet Webinar Liebau PKD and Ciliopathies

25 PKD proteinsform complexesat thecilium Habbig & Liebau, Mol Cell Pediatrics, ERKNet Webinar Liebau PKD and Ciliopathies

26 Ciliacanbefoundon multiple celltypes ERKNet Webinar Liebau PKD and Ciliopathies Fliegauf, Benzing, Omran, Nat Rev Mol Cell Biol, 2007

27 flow ERKNet Webinar Liebau PKD and Ciliopathies

28 flow ERKNet Webinar Liebau PKD and Ciliopathies

29 flow ERKNet Webinar Liebau PKD and Ciliopathies

30 flow up proximal distal ERKNet Webinar Liebau PKD and Ciliopathies down

31 ERKNet Webinar Liebau PKD and Ciliopathies O Connor et al., Cilia, 2013

32 ERKNet Webinar Liebau PKD and Ciliopathies

33 ERKNet Webinar Liebau PKD and Ciliopathies

34 ERKNet Webinar Liebau PKD and Ciliopathies e.g.: Sonic Hedgehog

35 PKD-associatedsignaling ERKNet Webinar Liebau PKD and Ciliopathies Liebau and Bergmann, 2016 In Schaefer/Geary Pediatric Kidney Disease 2nd edition

36 Emerging therapeuticapproaches Torres et al., NEJM ERKNet Webinar Liebau PKD and Ciliopathies

37 Definingpediatricend pointsforrcts International registrystudies: ARegPKDand ADPedKD Number of patients Number of patients ERKNet Webinar Liebau PKD and Ciliopathies

38 ARegPKD 111 centersin 27 countries ERKNet Webinar Liebau PKD and Ciliopathies

39 Risk factorsforearlydialysisdependency? Burgmaier et al., J Peds, ERKNet Webinar Liebau PKD and Ciliopathies

40 ERKNet Webinar Liebau PKD and Ciliopathies Burgmaier et al., J Peds, 2018

41 Risk factorsforearlydialysisdependency? Burgmaier et al., J Peds, ERKNet Webinar Liebau PKD and Ciliopathies

42 Summary CystickidneydiseasesareimportantcausesofESRD in childrenand adults. Variousimportantsubtypesofcystickidneydiseasesexist. Genetic testing may be required to confirm a specific diagnosis but widely available markers can help to rapidly establish a clinical diagnosis. Extrarenal manifestations should actively be sought. Cystickidneydiseasesarecurrentlyconsideredtobeciliopathiesand, as such, are systemic disorders. Forpediatricpatientsthedefinitionofprimaryend pointsforclinicaltrialsis challenging as there is ample phenotypic variability. International registry studies aim to characterize large pediatric ARPKD and ADPKD cohorts ERKNet Webinar Liebau PKD and Ciliopathies

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