Genetic mutations of discrete loci are the cause of a diverse array of polycystic kidney disease syndromes which present in distinct, as well as overlapping, phenotypic and hereditary patterns. Since molecular diagnostics are not currently a feasible clinical tool for the diagnosis of most cystic kidney diseases, physicians must rely upon their clinical acumen and knowledge base in order to ide...

Water and solutes transport in epithelial tissues is an important mechanism for maintenance of the homeostasis of internal environment; volume and composition of extracellular fluid. Molecular technologies and advancement of the genome projects have identified plenty of membrane proteins that mediate epithelial transport. Membrane transport proteins can be classified into channel, solute carrie...

Hereditary angioedema is a rare autosomal dominant disease characterized by the edema of subcutaneous tissues, respiratory tract and bowel. It is caused by the deficiency of C1 esterase inhibitor. Hereditary angioedema may be associated with autoimmune diseases, such as systemic lupus erythematosus, rheumatoid arthritis, autoimmune thyroiditis and glomerulonephritis. We report a 34-year-old mal...

Coexisting ankylosing spondylitis and hereditary multiple exostoses have rarely been reported (three patients) previously. A 27-year-old man with hereditary multiple exostoses is presented as a fourth report. At the age of 15 years, the patient had multiple exostoses around the knee, ankle and shoulder joints. He was diagnosed with ankylosing spondylitis 3 years ago. The patient's sister and hi...

Hereditary deficiencies of early complement components have usually been associated with the development of rheumatic diseases like systemic lupus erythematosus (SLE), while terminal component deficiency is well known to predispose to recurrent neisserial infection. In contrast, only recently have patients been reported with rheumatic disease and hereditary deficiency of a terminal component. T...

DNA testing broadens diagnostic tools available for hereditary ataxias. However, together with current knowledge of genes and their mutations crop up new phenotype figures of diseases already well known. Diagnostic problems in practice can consist in part due to the very similar symptoms of hereditary ataxias and acquaintance in or availability of new techniques such as DNA testing and result i...

Hereditary Hemochromatosis (HH) is one of the most common genetic diseases in Caucasian population, with a prevalence 1:200/400. Among four different types, form Type 1, homozygous p.C282Y variant HFE gene, which guanosine replaced by an adenosine (c.845 G>A). This results misfolding protein, can no longer reach cell membrane hepatocytes, thereby losing its ability to work as sensor for iron co...

BACKGROUND Prenatal diagnosis of congenital and hereditary diseases is a priority for the development of medical technologies in Russia. However, there are not many published research results on bioethical issues of prenatal DNA testing. OBJECTIVE The main goal of the article is to describe some of the bioethical aspects of prenatal DNA diagnosis of hereditary diseases with late onset in gene...

The authors have constructed a brief timeline of major clinical research related to hereditary spastic paraplegia (HSP). This timeline summarizes the evolution of HSP research, from the first clinical descriptions by Adolf von Strümpell in 1880 to the present day, with the transformation of these diseases into a rapidly-growing and heterogeneous group of neurogenetic diseases.

The development of centres of expertise (CE) and European Reference Networks (ERN) in the field of rare diseases (RD) is encouraged in the Council Recommendation on an Action in the Field of RD (2009/C 151/02) (8 June 2009) and most recently in the Directive on the application of patients’ rights in cross-border healthcare (2011/24/EU) (9 March 2011) as a means of organising care for thousands ...