Single-Cell Gene Expression Analysis in Patients with Medullary Sponge Kidney and a Retrospective Study

Autor: Ming Li, Da-Ming Xu, Shu-Bin Lin, Zheng-Liang Yang, Teng-Yu Xu, Jin-Huan Yang, Jun Yin
Rok vydání: 2022
Předmět:
Zdroj: BioMed Research International. 2022:1-11
ISSN: 2314-6141
2314-6133
DOI: 10.1155/2022/7688947
Popis: Objective. To establish better diagnosis thinking and provide advanced understanding of MSK, the CT imaging features, clinical characteristics, and the expression of suspected genes in the kidney spatiotemporal immune zonation and fetal renal development were investigated. Methods. 17 patients with MSK hospitalized in our hospital were selected as our research subjects. Human Phenotype Ontology, MalaCards: The Human Disease Database, GeneCards: The Human Gene Database, Human Protein Atlas, and Single Cell Expression Atlas were used to analyze this disease. Results. In our 17 patients, the incidence of MSK tended to be the same in male and female, and the onset age of MSK was probably 31-50 years old. The top one related disease of MSK was nephrocalcinosis and the most frequent phenotype related to MSK was nephrolithiasis. In addition, the expression of HNF1B, CLCN5, GDNF, ATP6V0A4, ATP6V1B1, LAMA2, RET, ACAN, and ABCC8 has been implicated in both human kidney immune zonation and fetal kidney development. Conclusions. HNF1B, CLCN5, GDNF, ATP6V0A4, ATP6V1B1, LAMA2, RET, ACAN, and ABCC8 could be independent indicators for the diagnosis and preventive intervention of MSK patients, and abnormal kidney development due to mutations in key genes was the underlying cause of MSK.
Databáze: OpenAIRE
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