{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T19:45:50Z","timestamp":1790279150367,"version":"4.1.0"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T00:00:00Z","timestamp":1586908800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"Beijing Municipal and Commission Health and Family Planning","award":["2015-3-076"],"award-info":[{"award-number":["2015-3-076"]}]},{"name":"The National Key Research and Development Program of China","award":["2016YFC0901502"],"award-info":[{"award-number":["2016YFC0901502"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2020,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this study is to summarize new clinical features mainly diffuse alveolar hemorrhage (DAH) in cblC deficiency.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We made a retrospective analysis of four pediatric patients diagnosed with DAH and pulmonary microangiopathy due to cblC deficiency between January 2017 and December 2018 in Beijing Children's Hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>This study describes four patients with their ages ranging from 4 years 2 months to 7 years 6 months with cblC deficiency who developed late\u2010onset diffuse lung disease (DLD). Of these, the first three patients presented predominantly with DAH, and the last patient with pulmonary microangiopathy confirmed by thoracoscopic lung biopsy. All patients were accompanied by pulmonary arterial hypertension (PAH), two accompanied by respiratory failure, and two accompanied by moderate megaloblastic anemia. Diffuse ground\u2010glass opacification and poorly defined ground\u2010glass centrilobular nodules were seen on high\u2010resolution computed tomography in one patient and three patients, respectively. All patients were suspected of having idiopathic pulmonary hemosiderosis or interstitial lung disease at other hospitals. All of them received treatment with corticosteroid before admission, but the symptoms did not improve. Moreover, all patients carried compound heterozygous mutations (c.80A&gt;G, c.609G&gt;A) in <jats:italic>MMACHC<\/jats:italic> and improved significantly after being treated for cblC deficiency and PAH.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>CblC deficiency should be considered in the differential diagnosis of DAH especially with PAH, and pulmonary microangiopathy be the main reason of DLD in these patients.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.24781","type":"journal-article","created":{"date-parts":[[2020,4,15]],"date-time":"2020-04-15T14:35:00Z","timestamp":1586961300000},"page":"1481-1486","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy"],"prefix":"10.1002","volume":"55","author":[{"given":"Jinrong","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Respiratory Medicine II, Beijing Children's Hospital affiliated to Capital Medical University National Center for Children's Health  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaolei","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine II, Beijing Children's Hospital affiliated to Capital Medical University National Center for Children's Health  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chunju","family":"Zhou","sequence":"additional","affiliation":[{"name":"Department of Pathology, Beijing Children's Hospital affiliated to Capital Medical University National Center for Children's Health  Beijing P.R. China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hui","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Respiratory Medicine II, Beijing Children's Hospital affiliated to Capital Medical University National Center for Children's Health  Beijing P.R. 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