Evidence map›Paper›PMID 41480250›Full record

ArticleCase reports in nephrology and dialysis

Dual-Genetic Etiology in an Atypical Dent Disease Phenotype Which Combines Features of Focal Segmental Glomerulosclerosis and Ellis-Van Creveld-Like Syndrome: A Case Report.

Dorella Del Prete, Monica Ceol, Alessandra Giannella, Giulio Ceolotto, Elena Sgrò, Giovanna Priante, Marny Fedrigo, Franca Anglani, Federico Nalesso

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Article in Case reports in nephrology and dialysis. 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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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Dorella Del PreteKidney Histomorphology and Molecular Biology Laboratory, Nephrology Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Monica CeolKidney Histomorphology and Molecular Biology Laboratory, Nephrology Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Alessandra GiannellaDivision of Thrombotic and Haemorrhagic Disease, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Giulio CeolottoEmergency Medicine Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Elena SgròKidney Histomorphology and Molecular Biology Laboratory, Nephrology Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Giovanna PrianteKidney Histomorphology and Molecular Biology Laboratory, Nephrology Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Marny FedrigoDepartment of Cardiac-Thoracic-Vascular Sciences and Public Health, University of Padua, Padua, Italy.
Franca AnglaniKidney Histomorphology and Molecular Biology Laboratory, Nephrology Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.
Federico NalessoKidney Histomorphology and Molecular Biology Laboratory, Nephrology Unit, Department of Medicine - DIMED, University of Padua, Padua, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Introduction: Dent disease (DD) is an X-linked recessive renal disorder characterized by features of incomplete Fanconi syndrome. DD varies in clinical presentation, manifesting with proteinuria alone or in combination with nephrocalcinosis/nephrolithiasis, and with or without chronic kidney disease, posing a challenge to clinical diagnosis. The genetic basis of DD is not completely known; about 25-35% of DD cases lack mutations in the disease-causing Case Presentation: We describe a young man with a renal phenotype resembling DD associated with nephrotic syndrome, focal segmental glomerulosclerosis (FSGS), tubular microcysts, and a significant family history of kidney disease. Also present was an extrarenal phenotype with short stature, narrow chest, recurrent upper respiratory tract infections, teeth anomalies and hypertension. We identified in the Conclusions: This case report provides insights into the phenotypic complexity of hereditary nephropathies and the diagnostic challenge posed by overlapping glomerular and tubular presentations. WES enabled us to expand our knowledge of the genetics of kidney diseases in adults and to reclassify the patient's nephropathy.

Indexed as

Case reportDent diseaseEVC2Focal segmental glomerulosclerosisWhole exome sequencingWT1

Identifiers

PMID41480250
PMCPMC12755895

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