ArticleFrontiers in pediatrics2025
Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association?
Article in Frontiers in pediatrics, 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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Abstract
Background: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by biallelic loss-of-function variants of the survival motor neuron 1 ( Case presentation: A 14-year-old girl presented with six months of limb weakness, progressive exacerbation of symptoms of left lower limb muscle weakness; her left lower limb muscle strength decreased, and bilateral knee tendon reflexes and Achilles tendon reflexes were not elicited. The patient was diagnosed with SMA type 3 in conjunction with the results of genetic testing. The patient had proteinuria and hematuria, and a renal biopsy was performed. Considering the patient's clinical and pathological characteristics, the final diagnosis was spinal muscular atrophy combined with IgA nephropathy. To the best of our knowledge, this is the first reported case that demonstrates the coexistence of SMA and IgAN. Discussion and conclusions: The exact mechanism of renal impairment due to SMA is not fully understood, and the combination of SMA with IgAN is extremely rare. Our report suggests that there may be a potential association between them.
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