Evidence map›Paper›PMID 41575523›Full record

ArticlePediatric nephrology (Berlin, Germany)2026

Identification of monogenic variants in steroid-resistant and steroid-sensitive nephrotic syndrome.

Bshara Mansour, Katharina Lemberg, Ronen Schneider, Ken Saida, Izzeldin Elmubarak, Seyoung Yu, Kirollos Yousef, Camille Nicolas Frank, Korbinian M Riedhammer, Muhammad Yasir Zahoor and 27 more

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Article in Pediatric nephrology (Berlin, Germany), 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

37 authors.

Bshara Mansour *Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Katharina Lemberg *Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Ronen SchneiderDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Ken SaidaDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Izzeldin ElmubarakDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Seyoung YuDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Kirollos YousefDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Camille Nicolas FrankDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Korbinian M RiedhammerDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Muhammad Yasir ZahoorDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Caroline M KolvenbachDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Lea M MerzDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Nils D MertensDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Aaron BaoDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Daanya SalmanullahDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Gina KalkarDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Selina HölzelDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Elena ZionDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Daniel MarchukDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Kraisoon LomjansookDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Alina BraunDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Gijs A C FrankenDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Loai A EidKidney Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
Hazem Subhi H AwadKidney Centre of Excellence, Al Jalila Children's Specialty Hospital, Dubai, United Arab Emirates.
Muna Al SaffarDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Neveen A SolimanDepartment of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.
Marwa M NabhanDepartment of Pediatrics, Center for Pediatric Nephrology and Transplantation, Kasr Al Ainy Medical School, Cairo University, Cairo, Egypt.
Jameela A KariPediatric Nephrology Center of Excellence, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.
Sherif El DesokyPediatric Nephrology Center of Excellence, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.
Mohamed A ShalabyPediatric Nephrology Center of Excellence, Department of Pediatrics, Faculty of Medicine, King Abdulaziz University Hospital, King Abdulaziz University, Jeddah, Saudi Arabia.
Said OodaExperimental and Clinical Internal Medicine Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.
Hanan M FathyDepartment of Pediatrics, Alexandria Faculty of Medicine, Alexandria University, Alexandria, Egypt.
Shrikant ManeDepartment of Genetics, Yale University School of Medicine, New Haven, CT, USA.
Shirlee ShrilDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Michael J G SomersDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Florian BuergerDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA.
Friedhelm HildebrandtDepartment of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, 02115 MA, USA. friedhelm.hildebrandt@childrens.harvard.edu.ORCID http://orcid.org/0000-0002-4167-8411

Funding

TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
American Society of Nephrology Carl W. Gottschalk Research Scholar GrantDeutsche Forschungsgemeinschaft Project No.: 404527522Deutsche Forschungsgemeinschaft Project No.: 456136540Deutsche Forschungsgemeinschaft Project No.: 461126211Deutsche Forschungsgemeinschaft Project No.: 499462148Deutsche Forschungsgemeinschaft Project No.: 519309154Deutsche Forschungsgemeinschaft Rückkehrstipendium KO 6579/ /3-1Deutscher Akademischer Austauschdienst Biomedical Education ProgramElse Kröner-Fresenius-Stiftung Germany)Else Kröner-Fresenius-Stiftung HamburgElse Kröner-Fresenius-Stiftung iPRIME Clinician Scientist Forschungskolleg (2021_EKFK.15Else Kröner-Fresenius-Stiftung UKEJSPS Overseas Research Fellowship No. 202260295Medizinische Fakultät, Universität zu Köln Koeln Fortune ProgramMedizinische Fakultät, Universität zu Köln Köln Fortune project no. 118/2024Medizinische Fakultät, Universität zu Köln Project No. 118/2024National Institute of Health RC-2-DK1222397National Institute of Health (US) 5T32-DK007726-37National Institutes of Health (US) 3T32DK007726-38S1National Institutes of Health (US) T32-GM007748Netherlands Organization for Scientific Research Rubicon: 452022311NIGMS NIH HHS T32 GM007748
6 · The paper itself

Abstract

backgroundSteroid-resistant nephrotic syndrome (SRNS) constitutes the second most common cause of chronic kidney disease (CKD) in children. A monogenic cause can be identified in approximately 25% of SRNS cases. In contrast, steroid-sensitive or steroid-dependent nephrotic syndrome (SSNS/SDNS) is typically attributed to multifactorial or immunological causes and rarely linked to monogenic etiology.

methodsWe performed exome sequencing (ES) in 237 families, including 183 with SRNS and 54 with SSNS/SDNS.

resultsA (likely) pathogenic variant in a known SRNS gene was identified in 29/183 individuals with SRNS (15.8%). Additionally, 6/183 (3.3%) individuals with SRNS carried pathogenic variants in phenocopy genes-genes associated with diseases that clinically mimic SRNS. The diagnostic yield was significantly higher in individuals with ≥ 50 Mb homozygosity-by-descent (HBD) (44.7% vs. 8.5%) and in those with SRNS disease onset before 1 year of age (41.9%). In individuals with SSNS/SDNS, we found a likely causative variant in only 1 of 54 probands.

conclusionsA genetic cause was established in 19.1% of SRNS patients (15.8% in known SRNS genes and 3.3% in phenocopy genes), but only 1.9% of non-steroid-resistant cases.

Indexed as

Drug ResistanceNephrotic SyndromeSteroidsAdolescentChildChild, PreschoolExome SequencingFemaleHomozygoteHumansInfantMaleSteroidsExome sequencing (ES)Glomerular diseaseMonogenic diseasePediatric kidney diseaseSteroid-resistant nephrotic syndrome (SRNS)

Identifiers

PMID41575523

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