Diagnosis and treatment of Fabry disease. Expert Opinion of the Polish Cardiac Society and the Polish Forum for Fabry Disease.

Fabry disease (FD) belongs to the group of lysosomal storage diseases (LSD), which are characterised by insufficient activity of enzymes responsible for the intra-lysosomal breakdown of various substrates. The result is an uncontrolled accumulation of by-products of cellular metabolism. Lysosomal storage diseases are inherited diseases, transmitted mainly in an autosomal recessive fashion.

Chronic Cough as the First Clinical Sign of Fabry Disease: A Case Report.

Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, which lead to a deficiency of the alpha-galactosidase A enzyme. Pulmonary involvement is one of the possible manifestations of FD, but it is often overlooked and is rarely the only clinical presentation. Chronic cough is an uncommon and nonspecific symptom of pulmonary involvement in FD.

Supporting the Diagnosis of Fabry Disease Using a Natural Language Processing-Based Approach.

In clinical practice, the consideration of non-specific symptoms of rare diseases in order to make a correct and timely diagnosis is often challenging. To support physicians, we developed a decision-support scoring system on the basis of retrospective research. Based on the literature and expert knowledge, we identified clinical features typical for Fabry disease (FD).

Effect of intravenous iron on endogenous erythropoietin and FGF-23 secretion in patients with chronic kidney disease.

Introduction: It has been observed that intravenous iron administration may suppress endogenous production of erythropoietin (EPO). We postulate that this effect may be mediated by increased FGF-23 secretion.

Aim Of The Study: To evaluate the short-term effect of intravenous iron sucrose administration on endogenous EPO secretion in patients with chronic kidney disease (CKD).

[Diagnostic challenges in Kimura's disease].

Unlabelled: Ultra-rare diseases occur with a frequency of 2 in 100 000 people or less. Kimura's disease (KD) affects less than 1 in 1 000 000 people. It is a benign, chronic inflammatory soft tissue disorder, accompanied by eosinophilia, raised immunoglobulin E (IgE) titer and the presence of painless subcutaneous masses, usually in the head and neck region.

Serum neurofilament light chain is not a useful biomarker of central nervous system involvement in women with Fabry disease.

Neurofilament Light Chain (NfL) serum concentration is a new noninvasive marker of neurodegenerative disorders. Fabry disease (FD) leads to accumulation of glycosphingolipids in tissues leading to progressive damage of critical body systems and organs, including peripheral and central nervous system. There are no established serum markers of neurodegeneration in FD.

First two years of reimbursed enzyme replacement therapy in the treatment of Fabry disease in Poland.

Fabry disease (FD) is an ultra-rare genetic lysosomal storage disease caused by pathologic gene variants resulting in insufficient expression of α-galactosidase A. This enzyme deficiency leads to accumulation of globotriaosylceramide and globotriaosylsphingosine in plasma and in different cells throughout the body, causing major cardiovascular, renal, and nervous system complications. Until 2018, reimbursed enzyme replacement therapy (ERT) for FD was available in all European Union countries except Poland.

Idiopathic Spontaneous Rupture of Renal Pelvis in a Single Functioning Kidney.

Spontaneous rupture of renal pelvis (SRRP) is a rare condition resulting in an extravasation of urine into retroperitoneal space. Due to the uncharacteristic symptoms, often mimicking renal colic, its diagnosis may be complicated. Herein, we report a case of a 73-year-old male with a solitary functioning kidney who presented with malaise and right-sided abdominal pain, rapidly followed by anuria.

Secondary Hemophagocytic Lymphohistiocytosis Complicated by a Cavitary Lung Lesion in a Kidney Transplant Recipient.

Hemophagocytic lymphohistiocytosis (HLH) is an uncommon life-threatening condition caused by an uncontrolled immunological response. It can develop secondary to malignancies, infections, systemic diseases, and immunosuppression. Multiple risk factors may present in kidney transplant recipients; however, the cases of HLH in this population have been described sparsely.

Effects of a Structured Physical Activity Program on Serum Adipokines and Markers of Inflammation and Volume Overload in Kidney Transplant Recipients.

BACKGROUND Kidney transplantation (KTx) reverses most abnormalities related to chronic kidney disease (CKD), but sedentary lifestyle persists in most kidney graft recipients. Physical inactivity has been associated with altered adipokine profile and inflammation in CKD. We postulated that increased physical activity achieved through an individually-tailored program can reverse these changes.

Simultaneous Improvement of Habitual Physical Activity and Life Quality in Kidney Transplant Recipients Involved in Structured Physical Activity Program.

Objectives: The aim of the study was to compare the effects of a physical activity program on daily physical activity and quality of life in kidney transplant (KTx) recipients and in patients with chronic kidney disease (CKD).

Materials And Methods: The study group consisted of 24 KTx recipients and 15 patients with stage 3 to 4 CKD. Habitual physical activity was monitored for 72 hours.

Associations Between Intravenous Iron, Inflammation and FGF23 in Non-Dialysis Patients with Chronic Kidney Disease Stages 3-5.

Background/aims: Both iron deficiency and chronic inflammation are highly prevalent in patients with chronic kidney disease (CKD). The effect of intravenous iron infusion on mineral metabolism in CKD may be modified by inflammation. Intravenous iron theraphy may reduce peripheral degradation, secretion, clearence of iFGF23 and lead to hypophosphatemia.