Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.

Ludwig Haydock, Guillaume Dorval, Laurence Heidet, Bertrand Knebelmann

Abstract readCase Reports

In one paragraph

Article in Kidney medicine, 2025. 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

4 authors.

Ludwig HaydockService de Néphrologie Adulte, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP): Université Paris Cité, Paris, France; Department of Medicine, Nephrology Research Group, Laval University, Quebec City, Quebec, Canada.

Guillaume DorvalLaboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.

Laurence HeidetLaboratoire des Maladies Rénales Héréditaires, Inserm UMR 1163, Institut Imagine, Université Paris Cité, Paris, France; Service de Néphrologie Pédiatrique Centre de Référence Maladies Rénales Héréditaires de l'Enfant et de l'Adulte (MARHEA), Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP), Paris, France.

Bertrand KnebelmannService de Néphrologie Adulte, Hôpital Necker-Enfants Malades, Assistance Publique, Hôpitaux de Paris (AP-HP): Université Paris Cité, Paris, France.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genetic testing is increasingly used to diagnose kidney diseases, proving cost-effective when performed on selected patients. We present the case of 2 brothers with proteinuria from a young age; one developed kidney insufficiency while the other maintained normal kidney function into late life. This case report investigates whether they inherited the same disease. The proband exhibited focal segmental glomerulosclerosis, with kidney function declining over time. Genetic analysis revealed heterozygous variants in

Indexed as

albuminuriacell surfaceCubilinCUBNfocal segmentalgeneticsglomerulosclerosiskidney tubulespathologyproteinuriaProteinuriaproximalreceptorsurineWT1β 2-microglobulin

Identifiers

PMID40291921

DOI10.1016/j.xkme.2025.100990

PMCPMC12032892

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