DISEASE OF THE MONTH Congenital Nephrogenic Diabetes Insipidus
Bibliographic record
Abstract
Congenital nephrogenic diabetes insipidus (NDI) is a rare disorder of the kidney characterized by the failure to concen-trate urine despite normal or elevated plasma concentrations of the antidiuretic hormone arginine vasopressin (AVP). The identifica-tion, characterization, and mutational analysis of two different genes, i.e., the AVP receptor 2 gene (AVPR2) and the vasopressin-sensitive water channel gene (aquaporin-2 [AQP2]), provide the basis for our understanding of two different hereditary forms of ND!: X-linked ND! and autosomal recessive NDI. A majority (>90%) of congenital ND! patients have AVPR2 mutations: Of 1 15 families with congenital ND! that were referred to our labo-ratories in Montreal and Berlin, 105 families had A VPR2 muta-tions and 10 had AQP2 mutations. When studied in vitro, most AVPR2 mutations lead to receptors that are trapped intracellularly and are unable to reach the plasma membrane. A minority of the
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How this classification was reachedexpand
Full frame distilled prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. Learned from the 10,348 direct Codex labels and 10,348 direct Gemma labels. Candidate is the union of thresholded teacher heads; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels or direct frontier model labels.
Codex and Gemma teacher scores by category
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.000 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.000 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one teacher head, not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".