Brain-derived neurotrophic factor (BDNF) belongs to the family of neurotrophins, which are growth factors with trophic effects on neurons. BDNF is the most widely distributed neurotrophin in the central nervous system (CNS) and is highly expressed in the prefrontal cortex (PFC) and hippocampus. Its distribution outside the CNS has also been demonstrated, but most studies have focused on its effects in neuropsychiatric disorders. Despite the advances in medicine in recent decades, neurological and psychiatric diseases are still characterized by high drug resistance. This review focuses on the use of BDNF in the developmental assessment, treatment monitoring, and pharmacotherapy of selected diseases, with a particular emphasis on epilepsy, depression, anorexia, obesity, schizophrenia, and Alzheimer’s disease. The limitations of using a molecule with such a wide distribution range and inconsistent method of determination are also highlighted.

Renalase is a recently identified flavoprotein oxidase, secreted mainly by the kidneys, which takes part in the degradation of catecholamines. The catecholamine inactivating effect results in the modulation of the sympathetic system tension and, consequently, in a decrease of blood pressure, myocardial contractility, heart rate, and vascular tone. Besides its enzymatic capacity, renalase shows cytoprotective properties by activating mitogen-activated protein kinase (MAPK) pathway. Several single nucleotide polymorphisms (SNPs) of the renalase gene have been identified, of which the most widely studied in relation to the development of selected diseases are rs2296545, rs10887800, and rs2576178. Numerous publications prove the contribution of renalase to the occurrence of cardiovascular diseases, kidney diseases, ischaemic stroke, diabetes type 1 and 2, as well as female infertility and schizophrenia. Further extended research into the various mechanisms of renalase activity may result in the use of this oxidase or its analogues as a therapeutic and/or diagnostic tool.

Hemolytic uremic syndrome (HUS) is defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI). Atypical HUS (aHUS), distinguished by its etiology, is caused by uncontrolled overactivation of the alternative complement pathway. The correct diagnosis of aHUS is complex and involves various gene mutations. Severe combined immunodeficiency (SCID), characterized by severe T-cell lymphocytopenia and a lack of antigen-specific T-cell and B-cell immune responses, is of seldom occurrence. In 10–15% of pediatric patients, SCID is caused by adenosine deaminase (ADA) deficiency. The authors describe the case of a boy who suffered from both aHUS and ADA-deficient SCID. At the age of 9 months, the patient presented acute kidney injury with anuria and coagulopathy. The diagnosis of aHUS was established on the basis of alternative complement pathway deregulation and disease-associated gene mutations. Further examination revealed immune system failure and, at the age of 13 months, the ADA deficiency was confirmed by genetic tests and the boy was diagnosed with ADA-SCID. ADA SCID has recently been described as a possible triggering factor of aHUS development and progression. However, more research is required in this field. Nevertheless, it is crucial in clinical practice to be aware of these two co-existing life-threatening diseases.

Background: Schimke immuno-osseous dysplasia (SIOD, OMIM 242900) is a rare, autosomal recessive, pleiotropic disease caused by mutations in the SMARCAL1 gene. SIOD is characterized by a triad of symptoms, i.e., progressive kidney disease due to focal segmen- tal glomerulosclerosis (FSGS), spondyloepiphyseal dysplasia and T-cell immunodeficiency. Additionally, heterogeneous neurological symptoms are often observed in the course of the syndrome. Case: The authors describe the case of a 14-year-old girl with SIOD, who presented with recurrent neurological symptoms, such as migraine-like headaches, diplopia and seizures. She was born at 34 weeks of pregnancy with hypotrophy (1280 g) and short stature (44 cm). Nephrotic-range proteinuria, the first symptom of the disease, was detected at the age of 4 and a half years. Significant immunodeficiency was also observed. She was finally diagnosed with Schimke immuno-osseous dysplasia on account of two pat- hogenic variants, c.836T>C (p.F279S) and c.2542G>T (p.E848X) identified in the SMARCAL1 gene. Conclusions: This report describes the clinical features and neuroimaging findings of a patient with SIOD. It also presents a possible correlation between neurological events and the Schimke disease, which should be considered during the diagnostic process.

Czubilińska-Łada J, Badeński A, Świętochowska E, et al. The influence of cord blood renalase and advanced oxidation protein products (AOPPs) on perinatal and anthropometric parameters of newborns of mothers with gestational hypertension [published online ahead of print