Mesangiolipidosis in Alagille syndrome--Relationship with apolipoprotein A-I
Bibliographic record
Abstract
Alagille syndrome (AGS) (OMIM #118450) is an inherited multiorgan disorder. Renal mesangiolipidosis was first described in this syndrome in 1982 and is characterized by enlarged glomeruli, secondary to an increase in the mesangial matrix and the presence of cells containing lipid droplets on sections stained with Sudan black [ 1 ]. The precise mechanism by which lipids are deposited in the kidneys of AGS patients is unclear. We present a case of mesangiolipidosis associated with apolipoprotein A-I (apoA-I) abnormalities in a child with a known diagnosis of AGS, leading us to consider the role of this lipoprotein in the pathogenesis of mesangial lipid deposition. During the first week of life, the patient presented with conjugated hyperbilirubinaemia and renal dysfunction. Subsequent investigations showed paucity of bile duct on liver biopsy, two small hyperechogenic kidneys, tetralogy of Fallot, dysmorphic facies and butterfly vertebrae. Diagnosis of AGS was confirmed by molecular genetic testing showing a microdeletion in JAG1 within 20p12 by fluorescence in situ hybridization (FISH) technique. During follow-up, the isotopic glomerular filtration rate (GFR), performed at 17 months of age, was 57 cc/min/1.73 m 2 (normal GFR for age: 95.7 ± 21.7 cc/min/1.73 m 2 ) and the patient had mild proteinuria up to 1 g/day. Despite treatment with ursodeoxycholic acid, chronic cholestasis and hyperlipidaemia were persistent. At 34 months of age, total bilirubin and conjugated bilirubin were increased to 690 and 420 μmol/l, respectively, while GGT was 105 U/l and INR was 1.02. Non-fasting plasma lipid levels showed an elevated plasma concentration of total cholesterol (8.57, normal 3.20–4.40 mmol/l), triglycerides (2.83, normal 0.4–1.3 mmol/l), Low-density lipoprotein (LDL)-cholesterol (7.16, normal 1.76–3.62 mmol/l) and reduced plasma concentration of High-density lipoprotein (HDL)-cholesterol (0.12, normal 0.93–1.89 mmol/l). Plasma apoA-I level was low (0.25, normal 0.94–1.78 g/l) and apolipoprotein B (apoB) level was elevated (1.83, 0.52–1.09 g/l). Progressively, serum creatinine concentration increased to 1.39 mg/dl (normal 0.26–0.61 mg/dl) and remained consistently high; a kidney biopsy was thus performed.
Fetched live from OpenAlex and de-inverted. Abstracts are not stored in this database: the inverted indexes are 8.6 GB of the frame’s 9.3 GB of text, and the host has 13 GB free.
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 | 0.000 | 0.002 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.001 |
| Bibliometrics | 0.002 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.001 | 0.001 |
| Open science | 0.001 | 0.001 |
| Research integrity | 0.003 | 0.001 |
| Insufficient payload (model declined to judge) | 0.004 | 0.001 |
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".