Internal medicine
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Gitelman's syndrome (GS), an inherited disorder due to loss of function of ion channels and transporters such as Na-Cl co-transporter (NCCT) in distal convoluted tubules, is characterized by hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis and hyperreninemic-hyperaldosteronism. A 39-year-old man was admitted to our hospital because of muscle weakness with such intractable disorders. ⋯ Based on these data, the clinical diagnosis of GS was made. Gene-sequencing analysis revealed compound heterozygous mutations of c.539C > A and c.1844C > T in SLC12A3, which is newly reported in Japanese GS.
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Case Reports
Pulmonary arterial hypertension caused by treatment with dasatinib for chronic myeloid leukemia -critical alert-.
We present a case of pulmonary arterial hypertension (PAH), which is potentially related to treatment with dasatinib (Sprycel(®)). A 61-year-old woman, who had been treated with dasatinib for 27 months for chronic myeloid leukemia (CML), visited our hospital complaining of dyspnea. In right heart catheterization, her mean pulmonary arterial pressure was 35 mmHg. ⋯ As notified by U. S. Food and Drug Administration (FDA) in October 2011, we recommend routine cardiopulmonary evaluation before and during treatment with dasatinib in CML patients in terms of the adverse effects of PAH.
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Case Reports
A case of platypnea orthodeoxia syndrome: a persistent history taking was the key to the diagnosis.
A 79-year-old woman who had been suffering from dyspnea on effort for more than 50 years was admitted for further examination and treatment. On the screening respiratory examinations, the A-aDO
2 was elevated but none of diffusion disturbance, ventilation-perfusion ratio inequality nor right-to-left shunt was detected. ⋯ Transesophageal echocardiography in recumbent and sitting positions revealed the platypnea orthodeoxia syndrome associated with atrial septal defect. This case highlights the necessity of awareness of this syndrome and the occult atrial septal defect. -
We report the case of a young woman with anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis, without tumor, who was successfully treated with rituximab. Because conventional immunotherapy, including corticosteroids, immunoglobulin (IVIg), and plasma exchange showed little improvement in our patient, we introduced another treatment using rituximab. ⋯ This case provides in vivo evidence that rituximab is an effective agent for treating anti-NMDAR encephalitis, even in those cases where conventional immunotherapies have been ineffective. Rituximab should be regarded as a beneficial therapeutic agent for this disease.
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Case Reports
Acquired hemophilia A associated with IgG4-related lung disease in a patient with autoimmune pancreatitis.
Immunoglobulin G4 (IgG4)-related lung diseases can occur in patients with autoimmune pancreatitis (AIP). However, the causal relationship between AIP and acquired hemophilia A (AH) is unknown. We herein report the first case of AH associated with IgG4-related lung disease that developed in a patient with AIP. ⋯ On admission, laboratory examinations revealed severe anemia with a markedly prolonged activated partial prothrombin time, a decreased level of factor VIII (FVIII) activity, and the existence of anti-FVIII antibodies. These findings were consistent with a diagnosis of AH. No relapse has been observed over the past 25 months, during which time, corticosteroid therapy has been continuously administered.