Unexpected Gaucher disease in a case of steroid-resistant nephrotic syndrome.

Mona Hamed Gehad, Doaa Mohammed Youssef, Wesam A Mokhtar, Manar M Fathy, Amal Gohary

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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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5 · Who and what money

Authors and funding

5 authors.

Mona Hamed GehadDepartment of Pediatrics, Faculty of Medicine, Zagazig University, Al Sharqia Governorate, Zagazig City, Egypt. mona_jehad@yahoo.com.ORCID http://orcid.org/0000-0002-1005-6046

Doaa Mohammed YoussefDepartment of Pediatrics, Faculty of Medicine, Zagazig University, Al Sharqia Governorate, Zagazig City, Egypt.

Wesam A MokhtarDepartment of Pediatrics, Faculty of Medicine, Zagazig University, Al Sharqia Governorate, Zagazig City, Egypt.

Manar M FathyDepartment of Pediatrics, Faculty of Medicine, Zagazig University, Al Sharqia Governorate, Zagazig City, Egypt.

Amal GoharyDepartment of Pediatrics, Faculty of Medicine, Zagazig University, Al Sharqia Governorate, Zagazig City, Egypt.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Gaucher disease (GD), the most common lysosomal storage disorder worldwide, should be considered in children presenting with unexplained hepatosplenomegaly and cytopenia. Kidney involvement is rare, and nephrotic syndrome constitutes an uncommon complication. We describe a 15-month-old female, the first child of consanguineous parents, who initially presented with infantile nephrotic syndrome. Kidney biopsy revealed focal segmental glomerulosclerosis (FSGS). The patient had the first corticosteroid treatment without any improvement. Mycophenolate mofetil was then added, resulting in partial remission. The patient subsequently developed pancytopenia, progressive stridor, hepatosplenomegaly, and recurrent seizures. Molecular genetic testing confirmed GD. Enzyme replacement therapy (ERT) improved cytopenia, seizure control, and organomegaly, as well as uremic manifestations; however, progression to kidney failure was not reversed.

Indexed as

Gaucher DiseaseGlomerulosclerosis, Focal SegmentalNephrotic SyndromeDrug ResistanceEnzyme Replacement TherapyFemaleGlucosylceramidaseHumansInfantKidneyTreatment OutcomeGlucosylceramidaseEnzyme replacement therapyFSGSGaucher diseaseNephrotic syndrome

Identifiers

PMID41060453

DOI10.1007/s00467-025-06991-z

PMCPMC12727710

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