| Autor: |
Apple, Benjamin, Sartori, Gino, Moore, Bryn, Chintam, Kiran, Singh, Gurmukteshwar, Anand, Prince Mohan, Strande, Natasha T., Mirshahi, Tooraj, Triffo, William, Chang, Alexander R. |
| Zdroj: |
Kidney International; March 2023, Vol. 103 Issue: 3 p607-615, 9p |
| Abstrakt: |
ALG8protein-truncating variants (PTVs) have previously been described in patients with polycystic liver disease and in some cases cystic kidney disease. Given a lack of well-controlled studies, we determined whether individuals heterozygous for ALG8PTVs are at increased risk of cystic kidney disease in a large, unselected health system–based observational cohort linked to electronic health records in Pennsylvania (Geisinger-Regeneron DiscovEHR MyCode study). Out of 174,172 patients, 236 were identified with ALG8PTVs. Using ICD-based outcomes, patients with these variants were significantly at increased risk of having any kidney/liver cyst diagnosis (Odds Ratio 2.42, 95% confidence interval: 1.53-3.85), cystic kidney disease (3.03, 1.26-7.31), and nephrolithiasis (1.89, 1.96-2.97). To confirm this finding, blinded radiology review of computed tomography and magnetic resonance imaging studies was completed in a matched cohort of 52 thirty-plus year old ALG8PTV heterozygotes and related non-heterozygotes. ALG8PTV heterozygotes were significantly more likely to have cystic kidney disease, defined as four or more kidney cysts (57.7% vs. 7.7%), or bilateral kidney cysts (69.2% vs. 15.4%), but not one or more liver cyst (11.5% vs. 7.7%). In publicly available UK Biobank data, ALG8PTV heterozygotes were at significantly increased risk of ICD code N28 (other disorders of kidney/ureter) (3.85% vs. 1.33%). ALG8PTVs were not associated with chronic kidney disease or kidney failure in the MyCode study or the UK Biobank data. Thus, PTVs in ALG8result in increased risk of a mild cystic kidney disease phenotype. |
| Databáze: |
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