Evidence map›Paper›PMID 41454146›Full record

ArticlePediatric research2026

Reversible Pulmonary Hypertension in CblC Deficiency (MMACHC c.80 A>G): long-term outcomes of metabolic and PH-targeted therapy.

Ruxuan He, Jinrong Liu, Xiaolei Tang, Hui Liu, Yuelin Shen, Xiaoyan Zhang, Huimin Li, Shunying Zhao, Haiming Yang

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Article in Pediatric research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

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1 · What the graph read from it

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3 · Its place in the literature

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1 citing paper in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

9 authors.

Ruxuan HeDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Jinrong LiuDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Xiaolei TangDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Hui LiuDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Yuelin ShenDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Xiaoyan ZhangDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Huimin LiDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China.
Shunying ZhaoDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China. zhaoshunying2001@163.com.
Haiming YangDepartment of Respiratory Medicine II, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, China National Clinical Research Center of Respiratory Disease, Beijing, China. yanghaiming830@163.com.

Funding

Natural Science Foundation of Xinjiang Uygur Autonomous Region 022D01D55
6 · The paper itself

Abstract

backgroundCobalamin C (cblC) deficiency, caused by MMACHC mutations, is a rare metabolic disorder with multisystem involvement. Pulmonary hypertension (PH) is an underrecognized but potentially life-threatening complication. This study aimed to characterize the clinical features and treatment outcomes of PH in children with cblC deficiency, particularly those carrying the MMACHC c.80 A > G variant.

methodsWe retrospectively analyzed 17 pediatric patients with genetically confirmed cblC deficiency who presented with PH as the initial manifestation. Clinical, biochemical, imaging, genetic, and therapeutic data were reviewed.

resultsAll patients had PH at diagnosis, with 64.7% (11/17) exhibiting moderate-to-severe pulmonary artery systolic pressure (PASP) elevation. Macrocytic anemia and renal dysfunction were common. HRCT revealed centrilobular ground-glass nodules, interlobular septal thickening, and pulmonary hemorrhage. B-type natriuretic peptide (BNP) levels were significantly higher in the moderate-severe group. All patients received metabolic therapy, and 11 received PH-targeted drugs. Glucocorticoids led to rapid clinical improvement in two patients presenting with pulmonary hemorrhage or hypoxemia. PASP normalized in all cases within 18 months. No recurrence occurred during follow-up.

conclusionPH is a serious but reversible complication of cblC deficiency. Early diagnosis and combined metabolic and PH-targeted therapy can reverse vascular remodeling. Screening for cblC should be considered in children with unexplained PH and macrocytic anemia or renal involvement. IMPACT: This study presents the largest cohort to date of pediatric patients with cblC deficiency presenting with pulmonary hypertension (PH) as the initial manifestation. It identifies a potential genotype-phenotype association between the MMACHC c.80 A > G variant and reversible pulmonary vascular disease. The findings highlight the importance of early metabolic and PH-targeted therapy, and support screening for cblC deficiency in children with unexplained PH and macrocytic anemia or renal involvement.

Indexed as

HomocystinuriaHypertension, PulmonaryOxidoreductasesVitamin B 12 DeficiencyAdolescentChildChild, PreschoolFemaleHumansInfantMaleMutationRetrospective StudiesTreatment OutcomeMMACHC protein, humanOxidoreductases

Identifiers

PMID41454146

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