Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis
Dan Ding, Hongmei Wu, Fei Zhao, Bixia Zheng, Qiuxia Chen · 2026
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Description
Dan Ding and co-authors map a rare plant-sterol disease across China, adding one unusual case. Their 2026 paper concerns sitosterolemia, a gene fault that lets plant sterols build up in blood. Their young patient also carried a second gene fault that destroys the kidneys.
The boy was first misread as having an immune storm condition. Gene tests settled both diagnoses at once. A review of 131 Chinese cases found fatty skin lumps and high cholesterol in most patients. Blood and organ damage grew commoner in adults. One of the two genes caused most cases. The authors stress gene testing when the picture clashes.
Catalog record
| CREATOR | Dan Ding, Hongmei Wu, Fei Zhao, Bixia Zheng, Qiuxia Chen |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 34 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |