La génétique des polykystoses rénales : mise au point et conseil génétique
Bibliographic record
Abstract
La polykystose rénale autosomique dominante (ADPKD) est une maladie génétique survenant chez un nouveau-né sur 1000 faisant de cette affection la forme héréditaire la plus fréquente d'atteinte rénale et représente jusqu'à 10 % des causes totales d'insuffisance rénale chronique terminale (IRCT). La polykystose rénale autosomique récessive (ARPKD) (1/20 000 à 1/40 000 cas) est rare. Elle se caractérise par l'association de kystes rénaux et d'une dysgénésie biliaire. Elle représente une cause importante de morbidité chez le nouveau-né et dans la petite enfance. Les symptômes de l'ARPKD peuvent débuter avant la naissance mais la maladie peut se révéler plus tardivement. Le mode de transmission génétique est différent : l'ADPKD résulte de la mutation de deux gènes, PKD1 (polycystic kidney disease 1) et PKD2 (polycystic kidney disease 2), situés respectivement sur les chromosomes 16 et 4. Dans l'ARPKD, les parents qui n'ont pas la maladie peuvent avoir un enfant atteint à la condition qu'ils transmettent tous les deux le gène muté PKHD1 (polycystic kidney and hepatic disease 1). Le gène est localisé sur le chromosome 6. Le conseil génétique est particulièrement indiqué dans les familles où la maladie rénale a débuté précocement. Il permet ainsi de réaliser l'enquête familiale et de décrire le mode de transmission, de dépister d'éventuels facteurs de mauvais pronostics, d'informer des complications de la polykystose rénale et d'expliquer les possibilités thérapeutiques actuelles. Autosomal dominant polycystic kidney disease (ADPKD) affects 1 newborn in 400 to 1000 making it the most common inherited form of genetic kidney disease and an important cause of medical morbidity and account for about 10% of end-stage renal disease. Autosomal recessive polycystic kidney disease (ARPKD) is a rare (1/20,000 to 1/40,000) inherited disease in children characterized by the association of dilation of collecting ducts and biliary dysgenesis. The clinical spectrum is variable but it represents an important cause of renal and liver-related morbidity and mortality in neonates and infancy. Symptoms of autosomal recessive PKD can begin before birth. ARPKD is genetically different from ADPKD. Parents who do not have the disease can have a child with the disease if both parents carry the abnormal gene and both pass the gene to their baby. Recently important advances in understanding the molecular basis of ADPKD (i.e. ADPKD1 and ADPKD2) and autosomal recessive PKD (i.e. PKHD1) have been done and are reported here. Genetic counselling is particularly advised in early onset disease families. It permits to determine the type of transmission, to describe the course and the major complications of the disease and to explain currents therapeutics possibilities.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.002 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.003 | 0.003 |
| Science and technology studies | 0.001 | 0.002 |
| Scholarly communication | 0.002 | 0.002 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.002 | 0.001 |
| Insufficient payload (model declined to judge) | 0.001 | 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 source (direct Gemma or distilled Codex), 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".