Phenotype expansion
kidney and urinary tract
1 supporting source
confidence 97%
novelty 90%
New observation reported: 4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a …
A source describes a new or expanded observation: “4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in the absence of overt diabetes.”
How this was derived
Flagged by novelty language (“for the first time”, “expands the phenotype”, …) in pmc.
Generated 2026-11-13, last changed
today. Dedup key expansion:b002f5.
The engine re-checks this insight on every analysis run; if more sources agree, its corroboration and confidence go up and it reappears as “new”.
Evidence (1 quote)
A Boy with End-Stage Kidney Disease and Hypertriglyceridemia
peer_reviewed
· published 2024-01-01
· live page
4 Here we report a 5-year-old end-stage kidney disease patient with renal cysts and hypertriglyceridemia as a manifestation of a known pathogenic HNF-1β mutation in the absence of overt diabetes.
Supporting documents (1)
| Document | Source | Published | Seen | Relevance |
|---|---|---|---|---|
| A Boy with End-Stage Kidney Disease and Hypertriglyceridemia | pmc | 2024-01-01 | yesterday | 1.00 |