LMX1B-associated steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis (case report)
- Authors: Prikhodina L.S.1,2, Stolyarevich E.S.3,4, Povilaitite P.E.5
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Affiliations:
- Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov University)
- Russian Medical Academy of Continuous Professional Education
- Russian University of Medicine
- City Clinical Hospital No. 52
- Pathological and Anatomical Bureau
- Issue: No 1 (2025)
- Pages: 38-43
- Section: Articles
- URL: https://pediatria.orscience.ru/2658-6630/article/view/678091
- DOI: https://doi.org/10.26442/26586630.2025.1.203093
- ID: 678091
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Abstract
Pathogenic variants in the LMX1B gene cause nail-patella syndrome, characterized by dysplasia of the patella, nails and elbows, and renal damage with focal segmental glomerulosclerosis (FSGS) with specific ultrastructural lesions of the glomerular basal membrane (GBM). We present a clinical observation of a girl with LMX1B-associated steroid-resistant nephrotic syndrome without the extrarenal characteristic of nail-patella syndrome with specific ultrastructural changes of the GBM. The presented clinical observation emphasizes the necessity to exclude proteinuria in family members with a child with FSGS and to perform molecular genetic study in all children with FSGS before prescribing immunosuppressive therapy with inclusion of LMX1B gene even in case of isolated kidney pathology.
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About the authors
Larisa S. Prikhodina
Veltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical University (Pirogov University); Russian Medical Academy of Continuous Professional Education
Author for correspondence.
Email: Prikhodina@rambler.ru
ORCID iD: 0000-0002-0702-4932
SPIN-code: 5171-4177
Scopus Author ID: 57193669037
D. Sci. (Med.)
Russian Federation, Moscow; Moscow
Ekaterina S. Stolyarevich
Russian University of Medicine; City Clinical Hospital No. 52
Email: Prikhodina@rambler.ru
D. Sci. (Med.)
Russian Federation, Moscow; MoscowPatricia E. Povilaitite
Pathological and Anatomical Bureau
Email: Prikhodina@rambler.ru
Cand. Sci. (Biol.), Pathological and Anatomical Bureau
Russian Federation, Rostov-on-DonReferences
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