{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,2]],"date-time":"2026-06-02T19:38:54Z","timestamp":1780429134841,"version":"3.54.1"},"reference-count":23,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2021,1,1]],"date-time":"2021-01-01T00:00:00Z","timestamp":1609459200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am J Nephrol"],"published-print":{"date-parts":[[2021]]},"abstract":"<b><i>Introduction:<\/i><\/b> Patients with ADTKD-<i>MUC1<\/i> have one allele producing normal mucin-1 (MUC1) and one allele producing mutant MUC1, which remains intracellular. We hypothesized that ADTKD-<i>MUC1<\/i> patients, who have only 1 secretory-competent wild-type <i>MUC1<\/i> allele, should exhibit decreased plasma mucin-1 (MUC1) levels. To test this hypothesis, we repurposed the serum CA15-3 assay used to measure MUC1 in breast cancer to measure plasma MUC1 levels in ADTKD-<i>MUC1<\/i>. <b><i>Methods:<\/i><\/b> This cross-sectional study analyzed CA15-3 levels in a reference population of 6,850 individuals, in 85 individuals with ADTKD-<i>MUC1<\/i>, and in a control population including 135 individuals with ADTKD-<i>UMOD<\/i> and 114 healthy individuals. <b><i>Results:<\/i><\/b> Plasma CA15-3 levels (mean \u00b1 standard deviation) were 8.6 \u00b1 4.3 U\/mL in individuals with ADTKD-<i>MUC1<\/i> and 14.6 \u00b1 5.6 U\/mL in controls (<i>p<\/i> &#x3c; 0.001). While there was a significant difference in mean CA15-3 levels, there was substantial overlap between the 2 groups. Plasma CA15-3 levels were &#x3c;5 U\/mL in 22% of ADTKD-<i>MUC1<\/i> patients, in 0\/249 controls, and in 1% of the reference population. Plasma CA15-3 levels were &#x3e;20 U\/mL in 1\/85 ADTKD-<i>MUC1<\/i> patients, in 18% of control individuals, and in 25% of the reference population. Segregation of plasma CA15-3 levels by the rs4072037 genotype did not significantly improve differentiation between affected and unaffected individuals. CA15-3 levels were minimally affected by gender and estimated glomerular filtration rate. <b><i>Discussion\/Conclusions:<\/i><\/b> Plasma CA15-3 levels in ADTKD-<i>MUC1<\/i> patients are approximately 40% lower than levels in healthy individuals, though there is significant overlap between groups. Further investigations need to be performed to see if plasma CA15-3 levels would be useful in diagnosis, prognosis, or assessing response to new therapies in this disorder. <\/jats:p>","DOI":"10.1159\/000515810","type":"journal-article","created":{"date-parts":[[2021,6,7]],"date-time":"2021-06-07T21:00:53Z","timestamp":1623099653000},"page":"378-387","source":"Crossref","is-referenced-by-count":12,"title":["Plasma Mucin-1 (CA15-3) Levels in Autosomal Dominant Tubulointerstitial Kidney Disease due to <b><i>MUC1<\/i><\/b> Mutations"],"prefix":"10.1159","volume":"52","author":[{"given":"Petr","family":"Vylet\u2019al","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kendrah","family":"Kidd","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hannah 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