Internal medicine
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Most patients with hereditary spherocytosis (HS) have a family history of disease, while those without such a history are difficult to diagnose. We herein report a case of HS with no family history harboring a novel heterozygous mutation of SPTA1, c.2161G>A (p. E721K), and a homozygous polymorphism of UGT1A1*6. ⋯ The coexistence of HS and Gilbert's syndrome increases the risk of gallstones. Therefore, splenectomy, alone or in combination with cholecystectomy, is recommended. The determination of genetic diathesis provides useful information for the management of hemolytic anemia.
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Granulomatosis with polyangiitis (GPA) is a systemic disease that causes vasculitis in various organs. Although the mechanism of pathogenesis remains unclear, infection has been reported to be a causative factor. ⋯ GPA was diagnosed based on pathological findings of the lung and nasal mucosal biopsies. She received methylprednisolone and rituximab, and her symptoms and radiological findings improved.
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Case Reports
A Case of Muscle Biopsy-proven Drug-induced Microscopic Polyangiitis in a Patient with Tuberculosis.
We herein report a case of muscle biopsy-proven microscopic polyangiitis (MPA) in a patient with tuberculosis. The patient had developed a persistent fever after the initiation of treatment for tuberculosis and was positive for myeloperoxidase-antineutrophil cytoplasmic antibody (ANCA). However, because conventional symptoms were lacking, determination of the biopsy site was difficult. ⋯ The fever was alleviated by glucocorticoids. Tuberculosis and antituberculosis drugs can cause ANCA-associated vasculitis (AAV). A muscle biopsy is useful for the diagnosis of AAV.
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Glycemic disorders involving large glucose fluctuations and recurrent hypoglycemia may lead to adverse cardiovascular events, including acute coronary syndrome (ACS). Flash glucose monitoring (FGM) has reportedly been useful for detecting latent glycemic disorders. ⋯ Thus, we herein present a unique case of ACS due to intraplaque hemorrhage in a post-gastrectomy patient who had no apparent coronary risk, except for a latent severe glycemic disorder detected via FGM. This masked etiology should be considered in ACS patients who have no apparent cardiovascular risks in order to improve their cardiovascular outcomes.
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Most cases of liver dysfunction in pregnancy are pregnancy-related, but the onset of systemic autoimmune diseases is also differentiated. A 24-year-old woman presented with liver dysfunction at 28 weeks' gestation with suspected autoimmune hepatitis and started taking ursodeoxycholic acid. ⋯ Since the patient had major symptoms during the puerperium, she was diagnosed with adult-onset Still's disease. When encountering a patient with liver dysfunction during pregnancy, we should also consider the onset of autoimmune diseases.