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Genetic causes of nephrotic syndrome (NS)
Evaluation and management of inherited causes of nephrotic syndrome in pediatric patients
- IPNA clinical practice recommendations for the diagnosis and management of children with steroid-resistant nephrotic syndrome, 2020
- IPNA clinical practice recommendations for the diagnosis and management of children with steroid-sensitive nephrotic syndrome, 2022
- KDIGO 2021 clinical practice guideline for the management of glomerular diseases
Nail patella syndrome
- Inheritance: autosomal dominant
- LMX1B encodes the LMX1B protein
- Transcription factor that targets genes related to actin cytoskeleton
- Important for limb, neuronal, eye development
- Expressed in podocytes and targets podocin and genes of the glomerular basement membrane (GBM)
- Transcription factor that targets genes related to actin cytoskeleton
- LMX1B encodes the LMX1B protein
- Phenotype:
- Variable
- Most have nail/digit findings, limb, pelvic abnormalities
- Nail hypoplasia/dysplasia (e.g., discoloration, ridging)
- Triangular lunulae (visible root of nail is triangular instead of crescent shaped)
- Limb abnormalities:
- Elbow abnormalities that limit extension, pronation and/or supination
- Patella abnormalities can include aplasia or hypoplasia which increases knee instability and risk of dislocation
- Hyperextensibility of the fingers
- Pelvic abnormalities:
- Hyperextensibility of the hips
- ~50% with kidney manifestations
- Proteinuria is most common
- May have microscopic hematuria
- May have accelerated progression of chronic kidney disease
- Diagnosis:
- Kidney biopsy not usually indicated
- Classically demonstrates fibrillar collagen bundles throughout the glomerular basement membrane and mesangium[PMID 28941488]
- Kidney biopsy not usually indicated
- Treatment:
- Antiproteinuric medication (ACEi/ARB)