Chloroquine Toxicity Misdiagnosed as Fabry Disease Associated with Systemic Lupus Erythematosus and Hashimoto Thyroiditis
Bibliographic record
Abstract
To the Editor: Fabry disease or Anderson-Fabry disease is an X-linked recessive lysosome storage disease resulting from the deficiency of the α-galactosidase enzyme (α-Gal A)1. Low activity of the enzyme leads to abnormal lysosomal accumulation of globotriaosylceramide in many organs such as kidneys, and arterial walls, cardiac muscles, and nerve cells. While men with < 1% α-Gal A enzyme typically experience symptoms of acroparesthesias, and the appearance of angiokeratomas, hypohidrosis, characteristic corneal and lenticular opacities (cornea verticillata), and proteinuria, women (homozygous and heterozygous) can range from being asymptomatic to having severe symptoms1. Literature reports a coexistence of Fabry disease with autoimmune diseases such as systemic lupus erythematosus (SLE), rheumatoid arthritis, and IgA nephropathy2. ### Case presentation A 14-year-old girl was diagnosed with SLE and Hashimoto thyroiditis 1.5 years ago, based … Address correspondence to Dr. M. Navratil, Department of Pulmonology, Allergology, Rheumatology and Clinical Immunology, Children’s Hospital Zagreb, Klaićeva 16, 10000 Zagreb, Croatia. E-mail: marta.navratil{at}gmail.com
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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 | 0.004 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.002 | 0.000 |
| Bibliometrics | 0.000 | 0.000 |
| Science and technology studies | 0.000 | 0.001 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.001 | 0.000 |
| Research integrity | 0.001 | 0.003 |
| 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".