Internal medicine
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We describe the case of a 25-year-old male with Duchenne muscular dystrophy and acute kidney injury who was receiving mechanical ventilation. The patient's estimated glomerular filtration rate (eGFR) was assessed using formulas based on creatinine, cystatin C, and inulin levels over time during the recovery of his renal function. ⋯ The Cystatin C-based eGFR was also higher than the inulin clearance. These findings suggest that cystatin C-based eGFR may also exceed inulin clearance in patients with an extremely reduced fat mass, in addition to a reduced muscle mass.
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Cardiac amyloidosis (CA), predominantly caused by amyloid transthyretin (ATTR) or immunoglobulin light chain (AL), has a poor prognosis, and a precise diagnosis is crucial because the optimal treatments differ between the two conditions. However, diagnosing AL-CA is challenging because of the unavailability of effective AL-detecting antibodies, particularly in cases with coexisting AL- and ATTR-CA. This report presents a successfully diagnosed case of complicated AL- and ATTR-CA that was successfully treated with tafamidis for ATTR-CA and combination chemotherapy for AL-CA. This case highlights the importance of a precise diagnosis of CA and supports the efficacy and safety of concurrent treatment for coexisting amyloidosis.
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Fabry disease (FD) is a rare X-linked lysosomal storage disorder. Enzyme replacement therapies (ERT), such as agalsidase α and β, are available treatment options. ⋯ We report the case of a female patient with Fabry disease who developed unexpected hypotension after six years of stable treatment with agalsidase α, leading to a switch to agalsidase β. Continuous monitoring may be essential to identify potential IRRs in female patients with Fabry disease receiving long-term ERT.
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Background The etiology of liver cancer is changing to metabolic dysfunction-associated steatotic liver disease, and ultrasound elastography is useful for identifying high-risk patients. However, these regional differences remain unclear. We aimed to investigate regional differences in the prevalence of liver cancer and the use of ultrasound elastography in Japan using the National Database of Health Insurance Claims (NDB). ⋯ Conclusion The morbidity of liver cancer and diabetes-related diseases is higher in Western Japan. However, ultrasound elastography is not widely used in Japan. There is an urgent need to promote awareness of ultrasound elastography to screen patients at high risk for liver cancer, particularly in Western Japan.
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A 70-year-old man with a history of left-sided renal donation surgery 11 days earlier developed rupture of a pancreaticoduodenal artery (PDA) aneurysm caused by median arcuate ligament syndrome (MALS). The patient also had a congenital anomaly and left-sided inferior vena cava (IVC). ⋯ Although PDA aneurysms related to MALS and left-sided IVC are rare conditions, PDA aneurysm rupture is life-threatening, and left-sided IVC presents a potential risk for deep vein thrombosis. However, comprehensive management strategies for these conditions have not yet been established.