Frontiers in pediatrics · 2026
Case Report: A research on a case of hereditary spherocytosis with idiopathic pulmonary hemosiderosis.
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Li Wen Xiang, Yang Jing, Dong Ting, Wu Deng Yan, Ma Li Na, Wu Hui Min
Аннотация
BACKGROUND: To share the experience of diagnosis and treatment on hereditary spherocytosis (HS) with idiopathic pulmonary hemosiderosis (IPH).
METHODS: The clinical data of HS with IPH in a child were retrospectively analyzed based on relevant references.
RESULTS: A 9-year-old girl who had been suffering from anemia for five years received ineffective treatment with iron, folic acid, and vitamin B12 supplements. She had never experienced hemoptysis, shortness of breath, or jaundice. Her hemoglobin (HGB) level was 71 g/L, and chest computed tomography (CT) revealed slight flocculent exudation. Hemosiderin-laden macrophages (HLMs) were detected in her bronchoalveolar lavage fluid (BALF).After the possibility of autoimmune hemolytic diseases was ruled out, the patient was diagnosed with IPH and treated with glucocorticoid medication (oral prednisone). Her HGB level gradually recovered but decreased again after 4-5 months of treatment, which was not related to the reduction of glucocorticoid (prednisone). At the same time, she exhibited icteric sclera, spherocytes (at 24%) in the peripheral blood smear, and a positive erythrocyte fragility test result. Genetic testing revealed heterozygous alterations in her ANK1 gene (1) and PKLR gene (2), as well as two heterozygous alterations in her SPTB gene (3). Finally, the patient was diagnosed with HS and IPH. Conclusion: IPH should be considered in children with chronic anemia that does not respond to treatment with iron and vitamin supplements.
CONCLUSIONS: Furthermore, medical history, especially test results showing mild abnormalities, is of great importance for the accurate diagnosis of hereditary diseases.
METHODS: The clinical data of HS with IPH in a child were retrospectively analyzed based on relevant references.
RESULTS: A 9-year-old girl who had been suffering from anemia for five years received ineffective treatment with iron, folic acid, and vitamin B12 supplements. She had never experienced hemoptysis, shortness of breath, or jaundice. Her hemoglobin (HGB) level was 71 g/L, and chest computed tomography (CT) revealed slight flocculent exudation. Hemosiderin-laden macrophages (HLMs) were detected in her bronchoalveolar lavage fluid (BALF).After the possibility of autoimmune hemolytic diseases was ruled out, the patient was diagnosed with IPH and treated with glucocorticoid medication (oral prednisone). Her HGB level gradually recovered but decreased again after 4-5 months of treatment, which was not related to the reduction of glucocorticoid (prednisone). At the same time, she exhibited icteric sclera, spherocytes (at 24%) in the peripheral blood smear, and a positive erythrocyte fragility test result. Genetic testing revealed heterozygous alterations in her ANK1 gene (1) and PKLR gene (2), as well as two heterozygous alterations in her SPTB gene (3). Finally, the patient was diagnosed with HS and IPH. Conclusion: IPH should be considered in children with chronic anemia that does not respond to treatment with iron and vitamin supplements.
CONCLUSIONS: Furthermore, medical history, especially test results showing mild abnormalities, is of great importance for the accurate diagnosis of hereditary diseases.