AI Article Synopsis
- The study aims to improve the diagnosis and understanding of Medullary Sponge Kidney (MSK) by examining imaging features, clinical traits, and gene expression related to kidney development and immune response.
- The research involved analyzing data from 17 MSK patients, revealing that the condition affects both genders equally, predominantly occurs in individuals aged 31-50, and is frequently associated with nephrocalcinosis and nephrolithiasis.
- Key genes such as HNF1B, CLCN5, and GDNF have been identified as potential diagnostic indicators for MSK, with gene mutations contributing to abnormal kidney development as a primary cause of the disease.
Article Abstract
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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9674422 | PMC |
| http://dx.doi.org/10.1155/2022/7688947 | DOI Listing |
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