{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T04:01:54Z","timestamp":1760241714589,"version":"build-2065373602"},"reference-count":15,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T00:00:00Z","timestamp":1533772800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["IJERPH"],"abstract":"<jats:p>Background: Imunoglobulin A (IgA) deficiency (IgAD) is the most common form of primary immunodeficiency in Western countries. There have been several reports on IgAD complicated by glomerulonephritis in adults, but only very few cases of IgAD with nephropathy have been reported in children. We present two cases of IgAD with relapsing nephrotic syndrome in pediatric age. Case presentation: A 4-year-old boy and a 2-year-old boy presented with bilateral periorbital oedema and weight gain. The results of laboratory tests revealed IgAD (IgA &lt; 7 mg\/dL), normal creatinine, hypoprotidaemia, hypoalbuminaemia, and nephrotic proteinuria. A diagnosis of IgAD and idiopathic nephrotic syndrome was made, and steroid treatment (prednisone 60 mg\/mq\/day) was started. During steroid tapering, the children experienced several relapses and to obtain a positive outcome they required therapy with human monoclonal anti-CD20 antibodies (rituximab in the first child, ofatumumab in the second one). Conclusions: Our cases highlight that IgAD can be observed in nephrotic syndrome and nephropathy in children with IgAD appears to be complicated and difficult to treat with corticosteroids alone. Further research is needed to better describe the clinical manifestations and pathological pictures among subjects with IgAD and nephrotic syndrome to understand whether IgAD has a prognostic value in children with nephrotic syndrome and to let clinical physicians define a more personalized and appropriate approach for the management of these patients.<\/jats:p>","DOI":"10.3390\/ijerph15081702","type":"journal-article","created":{"date-parts":[[2018,8,9]],"date-time":"2018-08-09T10:36:31Z","timestamp":1533810991000},"page":"1702","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["IgA Deficiency and Nephrotic Syndrome in Children"],"prefix":"10.3390","volume":"15","author":[{"given":"Lorenza","family":"Di Genova","sequence":"first","affiliation":[{"name":"Pediatric Clinic, Department of Medical and Surgical Sciences, Universit\u00e0 degli Studi di Perugia, 06132 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefania","family":"Ceppi","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Department of Medical and Surgical Sciences, Universit\u00e0 degli Studi di Perugia, 06132 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maurizio","family":"Stefanelli","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Department of Medical and Surgical Sciences, Universit\u00e0 degli Studi di Perugia, 06132 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4103-2837","authenticated-orcid":false,"given":"Susanna","family":"Esposito","sequence":"additional","affiliation":[{"name":"Pediatric Clinic, Department of Medical and Surgical Sciences, Universit\u00e0 degli Studi di Perugia, 06132 Perugia, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2018,8,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"1186","DOI":"10.1016\/j.jaci.2015.04.049","article-title":"Practice parameter for the diagnosis and management of primary immunodeficiency","volume":"136","author":"Bonilla","year":"2015","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"225","DOI":"10.1046\/j.1365-2249.2000.01131.x","article-title":"Selective IgA deficiency (SIgAD) and common variable immunodeficiency (CVID)","volume":"120","author":"Hammarstrom","year":"2000","journal-title":"Clin. Experim. Immunol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1007\/BF01541344","article-title":"Long-term persistence of selective IgA deficiency in healthy adults","volume":"14","author":"Koskinen","year":"1994","journal-title":"J. Clin. Immunol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"761","DOI":"10.1007\/s10875-010-9438-x","article-title":"Selective IgA deficiency in children in Israel","volume":"30","author":"Shkalim","year":"2010","journal-title":"J. Clin. Immunol."},{"key":"ref_5","unstructured":"Ochs, H.D., Edvard Smith, C.I., and Puck, J.M. (1999). Genetic approach to common variable immunodeficiency and IgA deficiency. Primary Immunodeficiency Disease, A Molecular and Genetic Approach, Oxford University Press. [1st ed.]."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"602","DOI":"10.1097\/ACI.0b013e3283594219","article-title":"IgA deficiency: What is new?","volume":"12","author":"Wang","year":"2012","journal-title":"Curr. Opin. Allergy Clin. Immunol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1006\/clin.1996.0132","article-title":"Development of a common variable immunodeficiency in IgA-deficient patients","volume":"80","author":"Espanol","year":"1996","journal-title":"Clin. Immunol. Immunopathol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"87","DOI":"10.1159\/000135694","article-title":"Progression of Selective IgA Deficiency to Common Variable Immunodeficiency","volume":"147","author":"Aghamohammadi","year":"2008","journal-title":"Intern. Arch. Allergy Immunol."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"961","DOI":"10.1007\/s10875-012-9702-3","article-title":"Selective IgA deficiency: Clinical and laboratory features of 118 children in Turkey","volume":"32","author":"Aytekin","year":"2012","journal-title":"J. Clin. Immunol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"742","DOI":"10.1007\/s10875-012-9858-x","article-title":"Clinical symptoms in adults with selective IgA deficiency: A case-control study","volume":"33","author":"Jorgensen","year":"2013","journal-title":"J. Clin. Immunol."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.2119\/molmed.2011.00195","article-title":"Selective IgA deficiency in autoimmune diseases","volume":"17","author":"Wang","year":"2011","journal-title":"Mol. Med. Rep."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1177\/000992280003900406","article-title":"The association of celiac disease, diabetes mellitus type 1, hypothyroidism, chronic liver disease, and selective IgA deficiency","volume":"39","author":"Bashar","year":"2000","journal-title":"Clin. Pediatr."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"520","DOI":"10.1016\/0272-6386(95)90501-4","article-title":"Identification of selective immunoglobulin a deficiency by renal biopsy","volume":"26","author":"Liu","year":"1995","journal-title":"Am. J. Kidney Dis."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"662","DOI":"10.1007\/s00467-004-1720-9","article-title":"IgA deficiency and membranous glomerulonephritis presenting as nephrotic syndrome","volume":"20","author":"Kawasaki","year":"2005","journal-title":"Pediatr. Nephrol."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"468","DOI":"10.1016\/j.pediatrneurol.2008.12.008","article-title":"Rasmussen syndrome combined with IgA deficiency and membranous nephropathy","volume":"40","author":"Ichikawa","year":"2009","journal-title":"Pediatr. Neurol."}],"container-title":["International Journal of Environmental Research and Public Health"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/1660-4601\/15\/8\/1702\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T15:17:40Z","timestamp":1760195860000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/1660-4601\/15\/8\/1702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2018,8,9]]},"references-count":15,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2018,8]]}},"alternative-id":["ijerph15081702"],"URL":"https:\/\/doi.org\/10.3390\/ijerph15081702","relation":{},"ISSN":["1660-4601"],"issn-type":[{"type":"electronic","value":"1660-4601"}],"subject":[],"published":{"date-parts":[[2018,8,9]]}}}