{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,31]],"date-time":"2025-12-31T09:50:32Z","timestamp":1767174632272,"version":"build-2238731810"},"reference-count":16,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T00:00:00Z","timestamp":1720396800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T00:00:00Z","timestamp":1720396800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Nephrol"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      The etiology of nephrotic syndrome can vary, with underlying metabolic diseases being a potential factor. Cobalamin C (cblC) defect is an autosomal recessive inborn error of metabolism caused by mutations in the\n                      <jats:italic>MMACHC<\/jats:italic>\n                      gene, resulting in impaired vitamin B12 processing. While cblC defect typically manifests with hematological and neurological symptoms, renal involvement is increasingly recognized but remains rare.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case Presentation<\/jats:title>\n                    <jats:p>\n                      We describe a 7-month-old male patient presenting with fatigue and edema. His initial laboratory findings showed anemia, thrombocytopenia, hypoalbuminemia and proteinuria. Further examinations reveals hemolysis in peripheral blood smear. During his follow up respiratory distress due to pleural effusion in the right hemithorax was noticed. And fluid leakage to the third spaces supported a diagnosis of nephrotic syndrome. The patient\u2019s condition deteriorated, leading to intensive care admission due to, hypertensive crisis, and respiratory distress. High total plasma homocysteine and low methionine levels raised suspicion of cobalamin metabolism disorders. Genetic testing confirmed biallelic\n                      <jats:italic>MMACHC<\/jats:italic>\n                      gene mutations, establishing the diagnosis of cblC defect. Treatment with hydroxycobalamin, folic acid, and betaine led to remarkable clinical improvement.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion\/Conclusion<\/jats:title>\n                    <jats:p>This case underscores the significance of recognizing metabolic disorders like cblC defect in atypical presentations of nephrotic syndrome. Early diagnosis and comprehensive management are vital to prevent irreversible renal damage. While cblC defects are more commonly associated with atypical hemolytic uremic syndrome, this case highlights the importance of considering cobalamin defects in the differential diagnosis of nephrotic syndrome, especially when associated with accompanying findings such as hemolysis. Our case, which has one of the highest homocysteine levels reported in the literature, emphasizes this situation again.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s12882-024-03656-1","type":"journal-article","created":{"date-parts":[[2024,7,8]],"date-time":"2024-07-08T14:02:03Z","timestamp":1720447323000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Case presentation: a severe case of cobalamin c deficiency presenting with nephrotic syndrome, malignant hypertension and hemolytic anemia"],"prefix":"10.1186","volume":"25","author":[{"given":"Halil Tuna","family":"Akar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harun","family":"Y\u0131ld\u0131z","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zeynelabidin","family":"\u00d6zt\u00fcrk","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Deniz","family":"Karakaya","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Abdullah","family":"Sezer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Asbur\u00e7e","family":"Olga\u00e7","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2024,7,8]]},"reference":[{"issue":"2","key":"3656_CR1","doi-asserted-by":"publisher","first-page":"331","DOI":"10.1002\/ncp.10622","volume":"36","author":"KJ Hampson","year":"2021","unstructured":"Hampson KJ, Gay ML, Band ME. Pediatric nephrotic syndrome: pharmacologic and nutrition management. Nutr Clin Pract. 2021;36(2):331\u201343.","journal-title":"Nutr Clin Pract"},{"issue":"1","key":"3656_CR2","first-page":"12","volume":"3","author":"M Semwal","year":"2020","unstructured":"Semwal M. A review on nephrotic syndrome with their causes, complications and epidemiology. Asian Pac J Nurs Health Sci. 2020;3(1):12\u20135.","journal-title":"Asian Pac J Nurs Health Sci"},{"key":"3656_CR3","doi-asserted-by":"crossref","unstructured":"Lane JC, Kaskel FJ. Pediatric nephrotic syndrome: from the simple to the complex. In seminars in nephrology. Elsevier; 2009.","DOI":"10.1016\/j.semnephrol.2009.03.015"},{"key":"3656_CR4","doi-asserted-by":"crossref","unstructured":"Welegerima Y, Feyissa M, Nedi T. Treatment outcomes of pediatric nephrotic syndrome patients treated in Ayder Comprehensive Specialized and Mekelle General Hospitals, Ethiopia. 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Cobalamin C defect: natural history, pathophysiology, and treatment. J Inherit Metab Dis. 2011;34:127\u201335.","journal-title":"J Inherit Metab Dis"},{"issue":"01","key":"3656_CR8","doi-asserted-by":"publisher","first-page":"025","DOI":"10.1055\/s-0036-1582251","volume":"6","author":"F Ceravolo","year":"2016","unstructured":"Ceravolo F, et al. Pathobiological insights into neurological involvement in Cobalamin C Deficiency. J Pediatr Biochem. 2016;6(01):025\u20139.","journal-title":"J Pediatr Biochem"},{"issue":"10","key":"3656_CR9","doi-asserted-by":"publisher","first-page":"980","DOI":"10.1515\/CCLM.2005.172","volume":"43","author":"KS McCully","year":"2005","unstructured":"McCully KS. Hyperhomocysteinemia and arteriosclerosis: historical perspectives. Clin Chem Lab Med (CCLM). 2005;43(10):980\u20136.","journal-title":"Clin Chem Lab Med (CCLM)"},{"key":"3656_CR10","doi-asserted-by":"crossref","unstructured":"Wood WD et al. The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency Pediatric Nephrology, 2021: pp. 1\u20134.","DOI":"10.1007\/s00467-021-05372-6"},{"issue":"4","key":"3656_CR11","doi-asserted-by":"publisher","first-page":"537","DOI":"10.1016\/j.ymgme.2015.01.012","volume":"114","author":"JD Weisfeld-Adams","year":"2015","unstructured":"Weisfeld-Adams JD, et al. Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance. Mol Genet Metab. 2015;114(4):537\u201346.","journal-title":"Mol Genet Metab"},{"key":"3656_CR12","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/s13023-019-1058-9","volume":"14","author":"X Wang","year":"2019","unstructured":"Wang X, et al. Distinct clinical, neuroimaging and genetic profiles of late-onset cobalamin C defects (cb1C): a report of 16 Chinese cases. 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Mol Genet Metab. 2013;109(4):360\u20135.","journal-title":"Mol Genet Metab"}],"updated-by":[{"DOI":"10.1186\/s12882-024-03692-x","type":"correction","label":"Correction","source":"publisher","updated":{"date-parts":[[2024,8,9]],"date-time":"2024-08-09T00:00:00Z","timestamp":1723161600000}}],"container-title":["BMC Nephrology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-024-03656-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s12882-024-03656-1\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s12882-024-03656-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,10]],"date-time":"2024-08-10T02:03:29Z","timestamp":1723255409000},"score":1,"resource":{"primary":{"URL":"https:\/\/bmcnephrol.biomedcentral.com\/articles\/10.1186\/s12882-024-03656-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,8]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2024,12]]}},"alternative-id":["3656"],"URL":"https:\/\/doi.org\/10.1186\/s12882-024-03656-1","relation":{},"ISSN":["1471-2369"],"issn-type":[{"value":"1471-2369","type":"electronic"}],"subject":[],"published":{"date-parts":[[2024,7,8]]},"assertion":[{"value":"28 October 2023","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"26 June 2024","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"8 July 2024","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"9 August 2024","order":4,"name":"change_date","label":"Change Date","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"Correction","order":5,"name":"change_type","label":"Change Type","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"A Correction to this paper has been published:","order":6,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"https:\/\/doi.org\/10.1186\/s12882-024-03692-x","URL":"https:\/\/doi.org\/10.1186\/s12882-024-03692-x","order":7,"name":"change_details","label":"Change Details","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"The patient\u2019s parents have given their written informed consent to publish this case (including publication of images). This case report was conducted ethically in accordance with the World Medical Association Declaration of Helsinki. The paper is exempt from Ethical Committee approval. Ethical approval was not required for this study in accordance with national guidelines.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The patient\u2019s parents have given their written informed consent to publish this case (including publication of images).","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"217"}}