Deutsche medizinische Wochenschrift
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Dtsch. Med. Wochenschr. · Oct 2024
Review[Lysosomal storage disorders - Fabry disease and Gaucher disease].
Lysosomal storage disorders (LSD) are a heterogenous group of inborn errors of metabolism due to lysosomal malfunction. LSDs affect 1 in 5000 live births, albeit every LSD itself has a low incidence. The most common LSDs are Fabry disease and Gaucher disease. ⋯ The lysosomes play a key role in degradation and cellular recycling of macromolecules. Besides disturbance of cellular function, substrate accumulation may result in secondary toxic and/or inflammatory processes. For treatment of Fabry and Gaucher disease, several therapeutic approaches are approved including enzyme replacement therapy, chaperon therapy for Fabry disease and substrate reduction therapy for Gaucher disease.
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Dtsch. Med. Wochenschr. · Oct 2024
Case Reports[Emergence of a multidrug-resistant tuberculosis through inadequate treatment of isoniazid monoresistance].
We admitted a 65-year-old patient with suspected reactivation of a pulmonary tuberculosis for further diagnosis. ⋯ Treating tuberculosis, considering drug resistances is crucial. To avoid ineffective therapy, molecular diagnostic methods are recommended, however, cultural testing remains essential. Diagnostic latency, rising rates of drug resistances and lengthy treatment courses contribute to the complexity of treatment. In Germany, specialized outpatient clinics are available since 2014 for diagnosis and treatment of patients with tuberculosis or non-tuberculous mycobacterial diseases, even in the event of mere suspicion.
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Dtsch. Med. Wochenschr. · Oct 2024
Review[Post-thrombotic syndrome - Prophylaxis, diagnostics and complication management].
The post-thrombotic syndrome PTS occurs when a relevant residual thrombus load remains after a deep vein thrombosis and/or the function of the venous valves is disturbed. The knowledge of the different types of PTS generates individualized therapeutic and secondary prophylactic approaches. Immediate compression, movement in compression garments and an effective anticoagulation are crucial for both the prevention and the outcome of post thrombotic syndromes.
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Hemochromatosis is a disorder of genetic origin which affects iron hemostasis, resulting in an increased transferrin saturation, hyperferritinemia and parenchymal iron overload. Recently, a new system for the classification of hemochromatosis has been proposed, wherein patients are separated into 4 groups, based on the disease affected iron regulatory genes. Excess iron and increased transferrin saturation results in the formation of non-transferrin bound iron which leads to tissue damage. ⋯ In order to provide ideal care for hemochromatosis patients, it is crucial to delineate hemochromatosis from other causes of hyperferritinemia, which is a common finding in patients with metabolic disorders. This article summarizes the diagnostic algorithm for hemochromatosis. Furthermore, recommendations for optimal care - including targets for phlebotomy - are discussed.
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Dtsch. Med. Wochenschr. · Oct 2024
Review[Environmental diagnostics for venous thromboembolism - thrombophilia and tumor screening].
Inadequate treatment of venous thromboembolism can have fatal consequences that are often irreversible. If the indication is given, long-term therapeutic anticoagulation may be necessary to reduce the risk of recurrence for those affected. ⋯ A careful assessment of possible contributing factors is therefore essential. If uncertainty persists, comprehensive environmental diagnostics with regard to thrombophilia or cancer can be helpful.