It has been recognized for many years that there are a few entities in which a characteristic combination of clinical and chemical abnormalities is genetically transmitted. The number of diseases and apparently harmless metabolic anomalies which have been recognized as belonging to this group has increased considerably since Garrod in 190225 described alkaptonuria as an ' inborn metabolic error...

Human autoinflammatory diseases (HAIDs) are a heterogeneous group of genetically determined affections characterized by seemingly unprovoked inflammation, in the absence of autoimmune or infective causes. The hereditary periodic fever syndromes (HPFSs) are a HAID subset consisting of three main nosologic entities: familial Mediterranean fever (FMF), hyperimmunoglobulinemia D and periodic fever ...

Epidemiological information of hereditary spherocytosis in China is slight. This systematic review summarizes the number of cases of hereditary spherocytosis reported in China Biology Medicine disc from 1978 to 2013. In total, 2,043 cases were reported in the past 36 years. We describe its distribution from time and space. We also estimate the literature reported prevalence of hereditary sphero...

BACKGROUND Low birth weight has been identified as a risk factor for chronic kidney disease (CKD). METHODS We analysed perinatal parameters taken from the National Birth Certificates of 435 children with CKD stages 3-5 of different aetiology and time of onset of CKD. Diseases were classified as congenital with onset of renal disease during fetal life (n = 260; 60%), hereditary as genetically ...

Familiarity with the concepts and methods of human genetics is important in order to be able to perform genetic analysis. The grade of predictability of a genetic disease is partly given by formal genetics but also depends on the importance of the mutated gene for the phenotype.Possibilities for genetic analysis range from differential diagnosis to predictive diagnosis to prenatal diagnosis. Af...

The availability of high-throughput genome sequencing technologies is expected to revolutionize our understanding of not only hereditary neurological diseases but also sporadic neurological diseases. The molecular bases of sporadic diseases, particularly those of sporadic neurodegenerative diseases, largely remain unknown. As potential molecular bases, various mechanisms can be considered, whic...