{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,24]],"date-time":"2026-02-24T08:48:32Z","timestamp":1771922912035,"version":"3.50.1"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T00:00:00Z","timestamp":1769040000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100014882","name":"Department of Finance of Hebei","doi-asserted-by":"publisher","award":["\u30142020\u301523"],"award-info":[{"award-number":["\u30142020\u301523"]}],"id":[{"id":"10.13039\/501100014882","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by biallelic loss-of-function variants of the survival motor neuron 1 (\n                      <jats:italic>SMN1<\/jats:italic>\n                      ) gene on chromosome 5q13. It has been reported that SMA may affect the function of the kidneys. Here, we report a patient with co-occurrence of SMA and IgA nephropathy (IgAN).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion and conclusions<\/jats:title>\n                    <jats:p>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.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2025.1728887","type":"journal-article","created":{"date-parts":[[2026,1,22]],"date-time":"2026-01-22T06:52:24Z","timestamp":1769064744000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association?"],"prefix":"10.3389","volume":"13","author":[{"given":"Yuxuan","family":"Gu","sequence":"first","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Le","family":"Wang","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Research, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaoying","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yanan","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peitong","family":"Han","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jieyuan","family":"Cui","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xinlei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuchan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lili","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Pathology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chunzhen","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Nephrology and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]},{"name":"Hebei Key Laboratory of Pediatric Allergy and Immunology, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]},{"name":"Hebei Clinical Medicine Research Center for Children's Health and Diseases, Hebei Children\u2019s Hospital","place":["Shijiazhuang, Hebei, China"]},{"name":"Mechanism Elucidation and Clinical Intervention of Pediatric Immune-Related Diseases Under Cross-Border Collaboration, Hebei Children's Hospital","place":["Shijiazhuang, Hebei, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,22]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"124","DOI":"10.1186\/s13023-017-0671-8","article-title":"Prevalence, incidence and carrier frequency of 5q-linked spinal muscular atrophy - 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