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Atypical C3-PIGN involves persistent hypocomplementemia. We investigated the clinical features and explored complement-related gene mutations in atypical PIGN patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We enrolled atypical C3-PIGN patients and collected data regarding the clinical presentation and pathological characteristics and follow-up data. We measured the levels of complement associated antibodies and performed whole-exome sequencing (WES) to detect mutations in complement-related genes.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>The analysis included six atypical C3-PIGN patients. All patients were antistreptolysin-O (ASO) positive. All patients had varying degrees of hematuria, and four patients had proteinuria. None of the patients were positive for complement-related antibodies. All patients possessed mutations of genes related to the complement pathway, including alternative complement pathway genes\u2014CFI, CFH, CFHR3, CFHR5; the lectin pathway gene\u2014MASP2; and the common complement pathway gene\u2014C8A. The rare variant of CFHR3 has been reported in C3 glomerulonephritis. During 56\u201373\u00a0months of follow-up, the levels of urine markers in three patients recovered within 6\u00a0months, and the remaining patients had abnormal urine test results over 12\u00a0months. Patients who received glucocorticoid therapy recovered faster.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusions<\/jats:title>\n                <jats:p>Our study suggested that complement-related gene mutations may be an important cause of persistent hypocomplementemia in atypical C3-PIGN patients. In addition to variations in alternate pathway-related genes, we also found variations in lectin pathway-related genes, especially <jats:italic>MASP2<\/jats:italic> genes. Although the overall prognosis was good, atypical C3-PIGN patients exhibited a longer period for recovery. Our results suggested that atypical C3-PIGN patients should receive more medical attention and need testing for mutations in complement-related genes.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s11255-023-03831-7","type":"journal-article","created":{"date-parts":[[2023,10,17]],"date-time":"2023-10-17T02:01:22Z","timestamp":1697508082000},"page":"1475-1485","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Evaluation of the significance of complement-related genes mutations in atypical postinfectious glomerulonephritis: a pilot study"],"prefix":"10.1007","volume":"56","author":[{"given":"Feng","family":"Xu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Changming","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mingchao","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaodong","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuiqin","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhen","family":"Cheng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Caihong","family":"Zeng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7656-9434","authenticated-orcid":false,"given":"Song","family":"Jiang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2023,10,17]]},"reference":[{"issue":"5","key":"3831_CR1","doi-asserted-by":"publisher","first-page":"403","DOI":"10.1111\/nep.12797","volume":"22","author":"G Ramanathan","year":"2017","unstructured":"Ramanathan G, Abeyaratne A, Sundaram M, Fernandes DK, Pawar B, Perry GJ, Sajiv C, Majoni SW (2017) Analysis of clinical presentation, pathological spectra, treatment and outcomes of biopsy-proven acute postinfectious glomerulonephritis in adult indigenous people of the Northern Territory of Australia. 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