From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States of America. Electronic address: gregory.pazour@umassmed.edu.
Program in Molecular Medicine, University of Massachusetts Medical School, Biotech II, Suite 213, 373 Plantation Street, Worcester, MA 01605, United States of America.
From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
From the Department of General Pediatrics, Adolescent Medicine and Neonatology, Center for Pediatrics, Medical Center-University of Freiburg, Mathildenstr 1, 79106 Freiburg, Germany (C.G.); Department of Pediatric Radiology, Jeanne de Flandre Mother and Child Hospital, University of Lille, Lille, France (E.F.A.); Department of Pediatric Radiology, University Hospital of Leuven, Leuven, Belgium (L.B.); Department of Pediatrics, University Hospital of Cologne, Cologne, Germany (K.B.); Department of Bioengineering, IRCCS Mario Negri Institute for Pharmacological Research, Bergamo, Italy (A.C.); Department of Pediatrics II, University Hospital Essen, Essen, Germany (M.C.); Department of Pediatric Kidney, Liver and Metabolic Diseases, Hannover Medical School, Hannover, Germany (D.H., D.F., L.P.); Division of Nephrology, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, Pa (E.A.H.); Department of General Pediatrics, University Children's Hospital, Münster, Germany (J.K., A.T.); Department of Pediatrics and Center for Molecular Medicine, University Hospital of Cologne, Cologne, Germany (M.C.L.); Department of Pediatric Nephrology, University Hospital of Leuven, Leuven, Belgium (D.M.); PKD Research Group, Laboratory of Pediatrics, Department of Development and Regeneration, GPURE, KU Leuven, Leuven, Belgium (D.M.); PKD Research Group, Department of Development and Regeneration, Catholic University Leuven (KU Leuven), Leuven, Belgium (D.M.); Academic Nephrology Unit, Department of Infection Immunity & Cardiovascular Disease, University of Sheffield, Sheffield, England (A.C.M.O.); Department of Nephrology, Fundació Puigvert, Autonomous University of Barcelona, IIB Sant Pau, REDINREN, Barcelona, Spain (R.T.); University College London Great Ormond Street, Institute of Child Health, London, England (P.J.D.W.); and Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, Heidelberg University Hospital, Heidelberg, Germany (F.S.).
Tuberous Sclerosis complex (TSC) is a multisystemic neurocutaneous genetic condition with high rates of morbidity and mortality from subependymal giant cell astrocytoma (SEGA), renal angiomyolipoma, a...
This case report illustrates three pediatric patients placed on everolimus for SEGA and seizure control with incidental findings of the disappearance of or decreased burden of cystic kidney disease af...
This report demonstrates the utility of everolimus in not only renal angiomyolipomas but also cystic kidney disease particularly in pediatric patients with a promising role in preserving renal functio...
Acquired Cystic Kidney Disease (ACKD) is a known complication in patients on maintenance hemodialysis, and it is associated with a high risk of malignant transformation. There is a paucity of data on ...
patients on maintenance hemodialysis were screened for ACKD. Patients with hereditary cystic kidney disease were excluded. Renal ultrasounds were performed by two radiologists. ACKD was defined as 3 o...
a total of 158 participants were enrolled and 61.4% (97) were male. Their mean (SD) age was 45.8 (14.9) years. The median dialysis vintage was 33.5 [10.7-63.2] months. The mean (SD) length of the kidn...
the prevalence of ACKD is high in a population of Cameroonians on maintenance. This result calls for the implementation of strategies to screen for the condition and its complications....
Kidney diseases with genetic etiology in children present with an overlapping spectrum of manifestations. We aimed to analyze the clinical utility of genetic testing in the diagnosis and management of...
In this retrospective study, children ≤ 18 years in whom a genetic test was ordered were included. Clinical indications for genetic testing were categorized as Glomerular diseases, nephrolithiasis and...
A total of 86 samples were sent for genetic testing from 76 index children, 8 parents and 2 fetuses. A total of 74 variants were reported in 47 genes. Out of 74 variants, 42 were missense, 9 nonsense,...
Nearly half (46%) of the children tested for a genetic disease had a genetic diagnosis. Genetic testing confirmed the clinical diagnoses, changed the clinical diagnoses or made a new diagnosis which h...
Our aim was to train and test a deep learning-based algorithm for automatically segmenting kidneys and renal cysts in patients with autosomal dominant polycystic kidney disease (ADPKD)....
We retrospectively selected all ADPKD patients who underwent renal MRI with coronal T2-weighted imaging at our institution from 2008 to 2022. The 20 most recent examinations constituted the test datas...
We included 164 ADPKD patients. Dice similarity coefficients ranged from 85.9% to 87.4% between the algorithms and the raters' segmentations and from 84.2% to 86.2% across raters' segmentations. For T...
The algorithm's performance fell within the range of inter-rater variability, but large TKV and TCV were underestimated....
Accurate automated segmentation of the renal cysts will enable the large-scale evaluation of the prognostic value of TCV and cystic index in ADPKD patients. If these biomarkers are prognostic, then au...
Cystic volume is an emerging biomarker in ADPKD. The algorithm's performance in segmenting kidneys and cysts fell within interrater variability. The segmentation of very large cysts, under-represented...
Polycystic kidney disease (PKD) is a rare but significant renal condition with major implications for global acute and chronic patient care. Oxidative stress and reactive oxygen species (ROS) can sign...
Bosniak classification version 2019 includes cystic masses in class II and IIF based partly on their hyperintense appearance at T1-weighted MRI. The prevalence of malignancy in non-enhancing heterogen...
To determine the malignancy proportion among six patterns of T1 hyperintensity within non-enhancing cystic renal masses....
This retrospective, single-institution study included 72 Bosniak class II and IIF, non-enhancing, T1-hyperintense cystic renal masses. Diagnosis was confirmed by histopathology or by follow-up imaging...
Among 72 masses, the mean number of masses assigned was 11 (15%) to pattern A, 21 (29%) to pattern B, 6 (8%) to pattern C, 7 (10%) to pattern D, 5 (7%) to pattern E, and 22 (31%) to pattern F. Five of...
Bosniak version 2019 class IIF masses that are non-enhancing and heterogeneously T1-hyperintense with a fluid-fluid level are likely benign. Those that are non-enhancing and heterogeneously T1-hyperin...
The study aims to compare retrospectively three clinically applied methods for the diagnostic performance of cystic renal masses (CRMs) by contrast-enhanced ultrasound (CEUS) and contrast-enhanced com...
A total of 52 cases of Bosniak II-IV CRMs in 49 consecutive patients were diagnosed from January 2013 to July 2022 and their data were analyzed. All patients had been subjected to CEUS and CECT simult...
A total of 52 CRMs in 49 enrolled patients were classified into 8 category II, 16 category IIF, 15 category III, and 13 category IV by CEUS (EFSUMB 2020), 10 category II, 13 category IIF, 16 category ...
Bosniak classification of EFSUMB 2020 version might be as accurate as version 2019 CEUS and version 2019 CECT in diagnosing CRMs, and CEUS is found to have an excellent safety profile in dealing with ...
Genetic testing in nephrology is becoming increasingly important to diagnose patients and to provide appropriate care. This is especially true for autosomal dominant polycystic kidney disease (ADPKD) ...
The authors describe a kidney transplant procedure using a living donor with a large cyst and double arteries. Due to the lack of regular transplant activity from a deceased donors, we decided to use ...
Autosomal Dominant Alport Syndrome (ADAS), also known as Thin Basement Membrane Disease (TBMD), is caused by pathogenic variants in COL4A3 and COL4A4 genes. A cystic phenotype has been described in so...
Retrospective single-center cohort study. Thirty-one patients showing pathogenic or likely pathogenic variants in COL4A3 or COL4A4 from a cohort of 79 patients with persistent microscopic hematuria we...
MKD was found in 16 patients (52%). Mean number of cysts per kidney was 12.7±5.5. No genetic abnormalities were found in a panel of 101 other genes related to familial hematuria, focal segmental glome...
MKD is commonly found in ADAS and is associated with a worse kidney outcome. No pathogenic variants were found in genes other than COL4A3/COL4A4....
