Deutsche medizinische Wochenschrift
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Dtsch. Med. Wochenschr. · Sep 2022
[Update nephrotic syndrome - new pathophysiologic concepts 2022].
The identification of autoantibodies responsible for the development of membranous nephropathy (MN) in most patients, has led to the development of antigen-specific diagnosis and treatment options for this disease. Pathomechanisms leading to the initiation of the immune response against PLA2R1 are not clear, yet. Environmental and genetic factors may play a role in these processes. ⋯ For both MCD and FSGS steroids remain the first line treatment strategy. When a steroid treatment needs to be avoided, calcineurin inhibitors are often used as a second line therapy. Other treatment options include cyclophosphamide, MMF and rituximab.
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Dtsch. Med. Wochenschr. · Sep 2022
[The broad spectrum of sickle cell disease: HbSC in everyday clinical practice].
Sickle cell disease has come to Germany from the Mediterranean region, Africa and the Middle East since the 1950 s and initially mainly concerned paediatricians. Since the 1970 s, the life expectancy of those affected has risen significantly, and about 95 % now live to adulthood. Therefore, general practitioners and internists should be familiar with the different forms of sickle cell disease, especially HbSC disease (approx. 20 %). ⋯ Annual retinoscopy is recommended for HbSC patients from the age of 7, and for all other sickle cell patients from the age of 10. If a hearing loss occurs in an HbSC patient, phlebotomy should be performed immediately. In all sickle cell patients with dizziness or pain and an Hb > 10 g/dl, phlebotomy is indicated.
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Thalassemias are a heterogeneous group of genetic diseases based on a quantitative disorder of globin chain synthesis. They are among the most frequent monogenic hereditary diseases worldwide. ⋯ The complex treatment of the patients represents a medical and socioeconomic challenge with the need for structured interdisciplinary clinical care and close collaboration among healthcare providers, regulatory authorities, and health care insurance companies. The following article provides an overview of the causes, pathogenesis, clinical presentation, and treatment of alpha- and beta-thalassemias.