Glomerular disease is responsible for 20-25% of kidney failure. One of the major causes is genetic abnormalities. Genetic forms of glomerular disease are predominantly caused by genetic defects in the structural molecules or regulatory factors of glomerular filtration barrier. Currently, more than 80 genes are known to be involved in genetic glomerular diseases. This is leading to exciting advances in our knowledge about glomerular biology and pathophysiology.
A genetic diagnosis already has important implications for management. Identifying patients who have a genetic cause is vital as it allows for the selection of the appropriate treatment strategy and proper family counseling and provides information regarding kidney transplantation and donor selection of family members. However, the challenge for nephrologists is to select which individuals are the best candidates for genetic testing.
The aim of this Research Topic is to showcase the latest research advances in genetic glomerular diseases, with a focus on diagnostic and therapeutic strategies, to make timely diagnosis and treatment as well as proper follow-up strategy. These involve clinicopathological characteristics (including clinical presentation, epidemiological data, kidney biopsy findings, novel non-invasive biomarkers), genetic testing strategies, treatment strategies, kidney outcomes and overall survival of patients. Studies about molecular mechanisms or functional study of the causative genes for addressing pathogenesis of glomerular disease are also welcome.
Researchers are encouraged to submit Original Research, Reviews, as well as exceptional Case-Reports that are relevant to this article collection that will cover topics such as (but are not limited to):
• Clinicopathological and genetic mutation features as well as their association
• Strategy for early diagnostics and identifying the predictors of finding a genetic diagnosis in individuals with a glomerular disease
• Advances of therapeutic strategies such as novel medications
• Basic study of genetic glomerular disease (e.g., pathogenesis, molecular mechanisms, treatment, translational study)
Glomerular disease is responsible for 20-25% of kidney failure. One of the major causes is genetic abnormalities. Genetic forms of glomerular disease are predominantly caused by genetic defects in the structural molecules or regulatory factors of glomerular filtration barrier. Currently, more than 80 genes are known to be involved in genetic glomerular diseases. This is leading to exciting advances in our knowledge about glomerular biology and pathophysiology.
A genetic diagnosis already has important implications for management. Identifying patients who have a genetic cause is vital as it allows for the selection of the appropriate treatment strategy and proper family counseling and provides information regarding kidney transplantation and donor selection of family members. However, the challenge for nephrologists is to select which individuals are the best candidates for genetic testing.
The aim of this Research Topic is to showcase the latest research advances in genetic glomerular diseases, with a focus on diagnostic and therapeutic strategies, to make timely diagnosis and treatment as well as proper follow-up strategy. These involve clinicopathological characteristics (including clinical presentation, epidemiological data, kidney biopsy findings, novel non-invasive biomarkers), genetic testing strategies, treatment strategies, kidney outcomes and overall survival of patients. Studies about molecular mechanisms or functional study of the causative genes for addressing pathogenesis of glomerular disease are also welcome.
Researchers are encouraged to submit Original Research, Reviews, as well as exceptional Case-Reports that are relevant to this article collection that will cover topics such as (but are not limited to):
• Clinicopathological and genetic mutation features as well as their association
• Strategy for early diagnostics and identifying the predictors of finding a genetic diagnosis in individuals with a glomerular disease
• Advances of therapeutic strategies such as novel medications
• Basic study of genetic glomerular disease (e.g., pathogenesis, molecular mechanisms, treatment, translational study)