Bibliographic record
Abstract
Les diabètes insipides néphrogéniques sont définis physiopathologiquement par l'impossibilité de concentrer maximalement les urines, et cliniquement par une polyurie. Ils peuvent être héréditaires ou secondaires à l'hypercalcémie, l'hypokaliémie ou l'administration de lithium. La résistance du tubule collecteur à la vasopressine (ou hormone antidiurétique) peut aussi être observée dans l'insuffisance rénale chronique et les néphropathies interstitielles. Les diabètes insipides néphrogéniques héréditaires peuvent être purs, c'est-à-dire exclusivement aquarétiques, ou complexes quand la diurèse pathologique observée s'accompagne d'une natriurèse et d'autres perturbations de l'excrétion électrolytique (potassium, calcium). Les diabètes insipides néphrogéniques héréditaires purs (aquarétiques) sont secondaires, soit à la perte de fonction du récepteur V2 antidiurétique de la vasopressine (AVPR2), soit à la perte de fonction du canal à l'eau dépendant de la vasopressine, l'aquaporine 2 (AQP2). Les mutations du gène AVPR2 (Xq28) sont responsables du diabète insipide néphrogénique lié à l'X. Les mutations du gène AQP2 (12p13) sont responsables du diabète insipide néphrogénique à transmission autosomique dominante ou récessive. Les diabètes insipides néphrogéniques héréditaires complexes (aquarétiques et natriurétiques) sont observés dans les syndromes de Bartter anténataux avec hyperprostaglandinurie et dans la cystinose. Le diagnostic génétique périnatal et le traitement précoce des enfants atteints de diabète insipide néphrogénique héréditaire permettent de prévenir et de traiter les épisodes sévères de déshydratation. Nephrogenic diabetes insipidus which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine–vasopressine (AVP). Polyuria, with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. Hypercalcemia, hypokaliemia, lithium administration and chronic renal failure are the principal causes of acquired nephrogenic diabetes insipidus. About 90 percent of patients with congenital nephrogenic diabetes insipidus are males with X-linked recessive nephrogenic diabetes insipidus who have mutations in the arginine–vasopressin receptor 2 (AVPR2) gene that codes for the vasopressin V2 receptor. The gene is located in chromosome region Xq28. In about 10 percent of the families studied, congenital nephrogenic diabetes insipidus has an autosomal recessive or autosomal dominant mode of inheritance. In these cases, mutations have been identified in the aquaporin-2 gene (AQP2), which is located in chromosome region 12q13 and codes for the vasopressin-sensitive water channel. Other inherited disorders with mild, moderate or severe inability to concentrate urine include Bartter's syndrome and Cystinosis. Identification of the molecular defect underlying congenital nephrogenic diabetes insipidus is of immediate clinical significance because early diagnosis and treatment of affected infants can avert the physical and mental retardation associated with episodes of dehydration.
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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 | 0.001 | 0.000 |
| Meta-epidemiology (narrow) | 0.002 | 0.002 |
| Meta-epidemiology (broad) | 0.005 | 0.002 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.003 | 0.004 |
| Insufficient payload (model declined to judge) | 0.001 | 0.003 |
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; both teacher heads agree on what is shown here.
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".