LMX1B-associated steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis (case report)

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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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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; Moscow

Patricia E. Povilaitite

Pathological and Anatomical Bureau

Email: Prikhodina@rambler.ru

Cand. Sci. (Biol.), Pathological and Anatomical Bureau

Russian Federation, Rostov-on-Don

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Supplementary files

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2. Fig. 1. Light microscopy (haematoxylin-eosin staining). Segmental glomerulosclerosis. Focal interstitial fibrosis and tubular dystrophy (<10%).

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3. Fig. 2. Light microscopy (Masson’s trichrome staining). Global and segmental glomerulosclerosis. Diffuse focal interstitial fibrosis and tubular atrophy.

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4. Fig. 3. Electron microscopy. Bundles of collagen fibrils (18–20 nm) in thickened glomerular basal membranes.

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5. Fig. 4. Examination of the nail plate. Absence of pathological changes.

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6. Fig. 5. Radiography: a – radiography of the knee joint, absence of pathological changes; b – radiography of the pelvic bones, absence of pathological changes.

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