Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

Gimpel, Charlotte; Avni, Fred E.; Bergmann, Carsten; Cetiner, Metin; Habbig, Sandra; Haffner, Dieter; König, Jens; Konrad, Martin; Liebau, Max C.; Pape, Lars; Rellensmann, Georg; Titieni, Andrea; Kaisenberg, Constantin von; Weber, Stefanie; Winyard, Paul J D; Schaefer, Franz

doi:10.1001/jamapediatrics.2017.3938

Cited by 73 publications

(54 citation statements)

References 75 publications

(65 reference statements)

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“…Asymptomatic at-risk individuals <18 years of age are usually not screened but decide whether and when to be tested as an adult 31,175 . The rationale for this recommendation is based on the current lack of disease-specific treatments for those individuals <18 years of age and, in the USA at least, problems can occur with obtaining medical insurance and with workplace issues, despite antidiscrimination legislation.…”

Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Polycystic kidney disease

Bergmann

Guay‐Woodford

Harris

et al. 2018

Nat Rev Dis Primers

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Cystic kidneys are common causes of end-stage renal disease, both in children and in adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) are cilia-related disorders and the two main forms of monogenic cystic kidney diseases. ADPKD is a common disease that mostly presents in adults, whereas ARPKD is a rarer and often more severe form of polycystic kidney disease (PKD) that usually presents perinatally or in early childhood. Cell biological and clinical research approaches have expanded our knowledge of the pathogenesis of ADPKD and ARPKD and revealed some mechanistic overlap between them. A reduced ‘dosage’ of PKD proteins is thought to disturb cell homeostasis and converging signalling pathways, such as Ca2+, cAMP, mechanistic target of rapamycin, WNT, vascular endothelial growth factor and Hippo signalling, and could explain the more severe clinical course in some patients with PKD. Genetic diagnosis might benefit families and improve the clinical management of patients, which might be enhanced even further with emerging therapeutic options. However, many important questions about the pathogenesis of PKD remain. In this Primer, we provide an overview of the current knowledge of PKD and its treatment.

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Section: Diagnosis Screening and Preventionmentioning

confidence: 99%

Polycystic kidney disease

Bergmann

Guay‐Woodford

Harris

et al. 2018

Nat Rev Dis Primers

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520

509

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“…So far, 19 manuscripts from the NEOCYST cohort have been published or accepted for publication—including a positional paper on the “perinatal management of early onset cystic kidney diseases” ( 40 ). Two further positional papers on “imaging of early onset cystic kidney diseases” and “management of early onset ADPKD” have been finalized and are about to be published.…”

Section: Current Statusmentioning

confidence: 99%

Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

2018

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Hereditary cystic kidney diseases comprise a complex group of genetic disorders representing one of the most common causes of end-stage renal failure in childhood. The main representatives are autosomal recessive polycystic kidney disease, nephronophthisis, Bardet–Biedl syndrome, and hepatocyte nuclear factor-1beta nephropathy. Within the last years, genetic efforts have brought tremendous progress for the molecular understanding of hereditary cystic kidney diseases identifying more than 70 genes. Yet, genetic heterogeneity, phenotypic variability, a lack of reliable genotype–phenotype correlations and the absence of disease-specific biomarkers remain major challenges for physicians treating children with cystic kidney diseases. To tackle these challenges comprehensive scientific approaches are urgently needed that match the ongoing “revolution” in genetics and molecular biology with an improved efficacy of clinical data collection. Network for early onset cystic kidney diseases (NEOCYST) is a multidisciplinary, multicenter collaborative combining a detailed collection of clinical data with translational scientific approaches addressing the genetic, molecular, and functional background of hereditary cystic kidney diseases. Consisting of seven work packages, including an international registry as well as a biobank, NEOCYST is not only dedicated to current scientific questions, but also provides a platform for longitudinal clinical surveillance and provides precious sources for high-quality research projects and future clinical trials. Funded by the German Federal Government, the NEOCYST collaborative started in February 2016. Here, we would like to introduce the rationale, design, and objectives of the network followed by a short overview on the current state of progress.

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“…Aktuell gibt es keine kurative Therapie für die ARPKD. Empfehlungen zur symptomatischen Therapie beruhen auf Expertenmeinungen [16,17]…”

Section: Therapieoptionen -Symptomatische Therapieunclassified

Erbliche Zystennierenerkrankungen: Autosomal-dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD)

Haumann

Burgmaier

Bergmann

et al. 2018

Medizinische Genetik

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Zusammenfassung Zystische Nierenerkrankungen gehören zu den wichtigsten Ursachen eines terminalen Nierenversagens bei Kindern und Erwachsenen. Während die häufigere autosomal-dominante polyzystische Nierenerkrankung (ADPKD) meist erst im Erwachsenenalter klinisch manifest wird, ist die seltene autosomal-rezessive polyzystische Nierenerkrankung (ARPKD) eine oft schwerwiegende Erkrankung des frühen Kindesalters. Das zunehmende Verständnis der zugrunde liegenden genetischen Veränderungen und molekularer Krankheitsmechanismen hat in den vergangenen Jahren zur Etablierung erster Therapieansätze geführt.

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Perinatal Diagnosis, Management, and Follow-up of Cystic Renal Diseases

Cited by 73 publications

References 75 publications

Polycystic kidney disease

Polycystic kidney disease

Network for Early Onset Cystic Kidney Diseases—A Comprehensive Multidisciplinary Approach to Hereditary Cystic Kidney Diseases in Childhood

Erbliche Zystennierenerkrankungen: Autosomal-dominante und autosomal-rezessive polyzystische Nierenerkrankung (ADPKD und ARPKD)

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