Bartter syndrome is an inherited metabolic disorder characterized by hypokalemic alkalosis and high rennin-angiotensin-aldosteronism which can occur at all ages but mainly in childhood. Classical Bartter syndrome is caused by loss-of-function variants in the gene encoding basolateral chloride channel ClC-Kb (CLCNKB), which is a common type of Bartter syndrome characterized with diverse clinical manifestations ranging from severe to very mild. This article reviews the function and mechanism of CLCNKB variants in Chinese population and the genotype-phenotype correlation of CLCNKB variants in classical Bartter syndrome.
Asian Continental Ancestry Group ; Bartter Syndrome ; genetics ; pathology ; Chloride Channels ; genetics ; Genetic Association Studies ; Humans ; Research ; trends

Objective To explore the biological basis of different diseases with the same syndrome for pulmonary related comorbidities(pulmonary hypertension,obstructive sleep apnea syndrome,chronic obstructive pulmonary disease,lung cancer)in idiopathic pulmonary fibrosis(IPF)through genomic bioinformatics analysis.Methods GSE110147,GSE113439,GSE135917,GSE106986 and GSE118370 datasets were downloaded as research subjects.The differential genes between each disease group and the control group were screened.Cytoscape 3.10.0 software was used for topology analysis to screen core genes.OmicShare was used to perform GO and KEGG pathway enrichment analyses on core genes.Results A total of 23 core genes related to IPF was obtained.GO enrichment analysis showed that core genes were mainly enriched in biological processes such as cellular process,metabolic process,biological regulation/biological process,developmental process,localization,response to stimulus,immune system process and signaling;in cellular components such as cellular anatomical entity and protein-containing complex;in molecular functions such as binding,catalytic activity,structural molecule activity,molecular adaptor activity,molecular function regulator and transcription regulator activity.KEGG pathway enrichment analysis showed that core genes were mainly enriched in ribosome biogenesis in eukaryotes,AGE-RAGE signaling pathway in diabetic complications,Th17 cell differentiation,JAK-STAT signaling pathway,RNA polymerase,neutrophil extracellular trap formation.Conclusion Using genomic bioinformatics analysis to explore the core genes and signaling pathways of pulmonary related comorbidities in IPF can reveal the mechanism of different diseases with the same syndrome for pulmonary related comorbidities in IPF to a certain extent.

OBJECTIVE To establish a multi-dimensional value assessment framework for new antidiabetic drugs based on multi-criteria decision analysis theory， thus providing a theoretical framework and methodology for evidence-informed medical insurance decision-making. METHODS Firstly， multi-dimensional evidence was searched and obtained to provide reliable data for the establishment of the framework. Secondly， in terms of the obtained evidence， the value assessment framework was preliminarily constructed. Its structure， main core criteria， and contextual criteria were determined through focus group discussion. Finally， the criteria and sub-criteria of the framework and their weights were further determined， reasons for inclusion of sub-criteria and the reasonableness of rating scores were evaluated， and methods of assessment were optimized through expert consultation. RESULTS The multi-dimensional value assessment framework for new antidiabetic drugs was composed of core criteria and contextualized criteria， which could be used for quantitative and qualitative value assessment of new drugs， respectively. The core criteria consisted of five dimensions， with affordability （6.31） having the highest weighting score， followed by comparative effectiveness （6.20）， comparative safety （6.01）， cost-effectiveness （5.89）， and quality of evidence （5.46）. After the normalization of weight within sub-criteria， the budget impact on medical insurance had the highest standardized weight， followed by the control of glycated hemoglobin and patient affordability. The contextual criteria included two dimensions， i. e.， innovation and equity. CONCLUSIONS The assessment framework integrates evidence， stakeholders’ values， and decision contexts to enable a multi- dimensional and evidence-based assessment of the value of new antidiabetic drugs.