Establishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology–Polycystic Kidney Disease (SONG-PKD) Consensus Workshop

Johnson, David W.; Rastogi, Anjay; Rangan, Gopala K.; Levin, Adeera; Yu, Alan; Ong, Albert; Thompson, Aliza; Tong, Allison; Baumgart, Amanda; Bernier-Jean, Amélie; Kelly, Amy; Viecelli, Andrea K.; Mallett, Andrew; Ju, Angela; Wang, Angela Yee-Moon; Rastog, Anjay; Sharma, Ankit; Nadeau‐Fredette, Annie‐Claire; Chapman, Arlene B.; Teixeira‐Pinto, Armando; Kelly, Ayano; Gillespie, Barbara S.; Sautenet, Bénédicte; Canaud, Bernard; Manns, Braden; Hemmelgarn, Brenda R.; Hanson, Camilla S.; Hawley, Carmel M.; Pollock, Carol; Logeman, Charlotte; Chao, Chia-Ter; Rutherford, Claudia; Ahn, Curie; Sumpton, Daniel; Harris, David A.; Johnson, David W.; Wheeler, David C.; Mekahli, Djalila; O’Donoghue, Donal; Peters, Dorien J.M.; Oberdhan, Dorothee; Balovlenkov, Elena; O’Lone, Emma; Au, Eric; Tentori, Francesca; Czerwiec, Frank S.; Rahbari-Oskoui, Frederic F.; Rangan, Gopi; Germino, Gregory G.; Park, Hayne; Htay, Htay; Ryu, Hyunjin; Norton, Jenna M.; Shen, Jenny I.; Gill, John S.; Craig, Jonathan C.; Kao, Juliana Tze-Wah; Eckardt, Kai‐Uwe; Manera, Karine; Van, Kim Linh; Guay‐Woodford, Lisa M.; Krishnan, Mahesh; Hogan, Marie C.; Howell, Martin; Park, Meyeon; Mrug, Michal; Chonchol, Michel; Ta, Michelle H. T.; Evangelidis, Nicole; Harris, Peter C.; Tugwell, Peter; Garimella, Pranav S.; El-Damanawi, Ragada; Krishnasamy, Rathika; Mustafa, Reem A.; McGee, Richard G; Pécoits-Filho, Roberto; Gansevoort, Ron T.; Perrone, Ronald D.; Torrá, Roser; Crowe, Sally; Anumudu, Samaya; Chan, Samuel; Bernays, Sarah; Horie, Shigeo; Carter, Simon; Palmer, Suetonia C.; Mendley, Susan R.; Gutman, Talia; Watnick, Terry; Hiemstra, Thomas F.; Weimbs, Thomas; Torres, Vicente E.; Jha, Vivekanand; Biesen, Wim Van; Winkelmayer, Wolfgang C.; Cho, Yeoungjee; Pei, York; Oh, Yun Kyu; Baron, David; Clark, David A.; McGinty-Poteet, Debra; Odland, Dwight; King, Elizabeth A.; Vickers, Frances; Coolican, Helen; Odland, Jean; Fowler, Kevin; Lee, Lynore; Vickers, Marvin; Johnston-Clark, Mary; Dorsey, Robin; Harris, Tess; Baron, Zachary

doi:10.1053/j.ajkd.2020.05.024

Cited by 20 publications

(27 citation statements)

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“…The lack of early prognostic markers to inform long-term decision making in adults remains a dilemma for both physicians and patients [57]. In children, such knowledge is even more limited and much longer-term studies are needed to achieve the same goal.…”

Section: Understanding and Stratifying Disease Variabilitymentioning

confidence: 99%

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

2021

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Significant progress has been made in understanding the genetic basis of autosomal dominant polycystic kidney disease (ADPKD), quantifying disease manifestations in children, exploring very-early onset ADPKD as well as pharmacological delay of disease progression in adults. At least 20% of children with ADPKD have relevant, yet mainly asymptomatic disease manifestations such as hypertension or proteinuria (in line with findings in adults with ADPKD, where hypertension and cardiovascular damage precede decline in kidney function). We propose an algorithm for work-up and management based on current recommendations that integrates the need to screen regularly for hypertension and proteinuria in offspring of affected parents with different options regarding diagnostic testing, which need to be discussed with the family with regard to ethical and practical aspects. Indications and scope of genetic testing are discussed. Pharmacological management includes renin-angiotensin system blockade as first-line therapy for hypertension and proteinuria. The vasopressin receptor antagonist tolvaptan is licensed for delaying disease progression in adults with ADPKD who are likely to experience kidney failure. A clinical trial in children is currently ongoing; however, valid prediction models to identify children likely to suffer kidney failure are lacking. Non-pharmacological interventions in this population also deserve further study.

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Section: Understanding and Stratifying Disease Variabilitymentioning

confidence: 99%

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

2021

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“…Measuring studies up to the core outcomes defined by the SONG-Kids project appeared most appropriate to us, as there is no qualitative research on patient perspectives in ARPKD so far and the parallel SONG-PKD project focuses on adults with ADPKD. This is reflected by many adult concerns (e.g., fertility, sexual function, cardiovascular disease) and issues specific to ADPKD (e.g., cyst bleeds, cyst infections, and cyst growth) in the SONG-PKD core outcome set [19]. However, SONG-Kids is also not entirely appropriate to children with ARPKD, as they more frequently have hepatic involvement and often suffer from stage 5 chronic kidney disease earlier than children with other causes of CKD.…”

Section: Discussionmentioning

confidence: 99%

“…The SONG-Kids project focuses on children with all-cause chronic kidney disease [14] and has provided a systematic literature review [15], international patient focus groups [16], Delphi surveys among patients and health professionals [17], and a consensus workshop [18] on core outcomes for this patient group. Additionally, the SONG-PKD project has provided a set of core outcomes for adults with ADPKD with thorough involvement of all stakeholders [19]. The SONG projects rank outcome domains into three tiers: core outcomes (critically important to all stakeholders), middle-tier outcomes (critically important to some stakeholders), and outer-tier outcomes (important to some stakeholders).…”

Section: Introductionmentioning

confidence: 99%

Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?

2021

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Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare severe hepatorenal disease. Survivors of pulmonary hypoplasia and patients with milder presentations often achieve long-term survival but frequently require kidney and/or liver transplantation. Objective To examine the use of clinical, surrogate and patient-centered outcomes in studies on ARPKD with special attention to core outcomes of the Standardized Outcomes in NephroloGy project for children with chronic kidney disease (SONG-Kids). Data sources and study eligibility criteria A systematic MEDLINE literature search identified 367 ARPKD studies published since 1990; however, of these 134 were excluded because they did not report any clinical outcomes (e.g. only histopathological, genetic, protein structure or radiological markers), 19 studies because they only included prenatal patients and 138 because they were case reports with ≤ 3 patients. Study appraisal Seventy-six eligible studies were examined for study type, size, intervention, and reported outcomes by organ system and type, including all SONG-kids tier 1–3 outcomes. Participants There were 3231 patient-reports of children and adults with ARPKD. Results The overwhelming majority of studies reported clinical and surrogate outcomes (75/76 (98%) and 73/76 (96%)), but only 11/76 (14%) examined patient-centered outcomes and only 2/76 (3%) used validated instruments to capture them. Of the SONG-Kids core outcomes, kidney function was reported almost universally (70/76 (92%), infection and survival in three quarters (57/76 (75%), 55/76 (72%)) and measures of life participation (including neurological impairment) only rarely and inconsistently (16/76 (21%)). Limitations Thirty studies (39%) were of low quality as they were either narrative case reports (n = 14, 18%) and/or patients with ARPKD were an indistinguishable subgroup (n = 18, 24%). Only 28 trials compared interventions, but none were randomized. Conclusions and implications Studies that reported clinical outcomes in ARPKD usually covered the core outcome domains of kidney function, infections, and survival, but measures of life participation and patient-centered outcomes are distinctly lacking and require more attention in future trials. Graphical abstract

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“…We recently reported that the EC response to aneurysmal low WSS was dampened in ECs without primary cilium, leading to disorganized intercellular junctions and increased endothelial permeability ( Diagbouga et al, 2021 ). Altered endothelial function is supposed to be an important factor for the increased severity of IA disease observed in polycystic kidney disease (PKD) patients, a genetic disorder affecting primary cilia ( Cho et al, 2021 ). Little is known, however, on the potential differences in endothelial dysfunction/injury induced by the diverse flow magnitudes in IAs.…”

Section: Introductionmentioning

confidence: 99%

Effects of Low and High Aneurysmal Wall Shear Stress on Endothelial Cell Behavior: Differences and Similarities

et al. 2021

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Background: Intracranial aneurysms (IAs) result from abnormal enlargement of the arterial lumen. IAs are mostly quiescent and asymptomatic, but their rupture leads to severe brain damage or death. As the evolution of IAs is hard to predict and intricates medical decision, it is essential to improve our understanding of their pathophysiology. Wall shear stress (WSS) is proposed to influence IA growth and rupture. In this study, we investigated the effects of low and supra-high aneurysmal WSS on endothelial cells (ECs).Methods: Porcine arterial ECs were exposed for 48 h to defined levels of shear stress (2, 30, or 80 dyne/cm2) using an Ibidi flow apparatus. Immunostaining for CD31 or γ-cytoplasmic actin was performed to outline cell borders or to determine cell architecture. Geometry measurements (cell orientation, area, circularity and aspect ratio) were performed on confocal microscopy images. mRNA was extracted for RNAseq analysis.Results: ECs exposed to low or supra-high aneurysmal WSS were more circular and had a lower aspect ratio than cells exposed to physiological flow. Furthermore, they lost the alignment in the direction of flow observed under physiological conditions. The effects of low WSS on differential gene expression were stronger than those of supra-high WSS. Gene set enrichment analysis highlighted that extracellular matrix proteins, cytoskeletal proteins and more particularly the actin protein family were among the protein classes the most affected by shear stress. Interestingly, most genes showed an opposite regulation under both types of aneurysmal WSS. Immunostainings for γ-cytoplasmic actin suggested a different organization of this cytoskeletal protein between ECs exposed to physiological and both types of aneurysmal WSS.Conclusion: Under both aneurysmal low and supra-high WSS the typical arterial EC morphology molds to a more spherical shape. Whereas low WSS down-regulates the expression of cytoskeletal-related proteins and up-regulates extracellular matrix proteins, supra-high WSS induces opposite changes in gene expression of these protein classes. The differential regulation in EC gene expression observed under various WSS translate into a different organization of the ECs’ architecture. This adaptation of ECs to different aneurysmal WSS conditions may affect vascular remodeling in IAs.

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Establishing a Core Outcome Set for Autosomal Dominant Polycystic Kidney Disease: Report of the Standardized Outcomes in Nephrology–Polycystic Kidney Disease (SONG-PKD) Consensus Workshop

Abstract: This is a repository copy of Establishing a core outcome set for autosomal dominant polycystic kidney disease : report of the Standardized Outcomes in Nephrology-Polycystic Kidney Disease (SONG-PKD) consensus workshop.

Cited by 20 publications

References 26 publications

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

The wind of change in the management of autosomal dominant polycystic kidney disease in childhood

Systematic review on outcomes used in clinical research on autosomal recessive polycystic kidney disease—are patient-centered outcomes our blind spot?

Effects of Low and High Aneurysmal Wall Shear Stress on Endothelial Cell Behavior: Differences and Similarities

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