Idiopathic Infantile Hypercalcemia Presenting in Childhood but Diagnosed in Adulthood
Bibliographic record
Abstract
Objective: Hypercalcemia can be caused by a variety of pathologies and factors. Vitamin D plays a central role in calcium homeostasis, where tight control of its metabolism is necessary. Inadequate 25-hydroxyvitamin D-24-hydroxylase (CYP24A1) enzyme activity leads to failure of 25-hydroxyvitamin D and 1,25-dihydroxyvitamin D catabolism, resulting in hypercalcemia. Methods: This study consists of a case report and brief review of the literature. A young woman with persistent hypercalcemia of unknown origin was investigated by measuring phosphate, parathyroid hormone, and vitamin D metabolites, as well as by evaluating kidney and bone involvement. Results: The patient was asymptomatic and had a cystitis-like syndrome during childhood. The patient exhibited hypercalcemia and hypercalciuria with suppressed PTH. Liquid chromatography with tandem mass spectrometry analysis of vitamin D metabolites revealed elevated 1,25-dihydroxyvitamin D 3 (301 pg/mL) and an elevated ratio of 25-hydroxyvitamin D 3 to 24,25-dihydroxyvitamin D 3 of 390. Screening for CYP24A1 gene mutations was performed. Bi-allelic mutations in the coding region of CYP24A1 were identified (Arg396Trp/Leu409S), confirming the diagnosis of hypercalcemia due to CYP24A1 mutation. The patient's family members were also studied. Conclusion: This particular case of hypercalcemia due to a mutation in CYP24A1 emphasizes 2 main concerns: vitamin D-related hypercalcemia should be considered at any age in patients with hypercalcemia, and asymptomatic patients with CYP24A1 mutations are at risk of developing hypercalcemia arising from vitamin D supplementation. Abbreviations: 1,25-(OH) 2 D 3 1,25-dihydroxyvitamin D3 25-OH-D 3 25-hydroxyvitamin D 3 24,25-(OH) 2 D 3 24,25-dihydroxyvitamin D 3 CYP24A1 25-hydroxyvitamin D-24-hydroxylase FGF23 fibroblast growth factor 23 IIH idiopathic infantile hypercalcemia LC-MS/MS liquid chromatography with tandem mass spectrometry PTH parathyroid hormone
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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 | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.001 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.001 | 0.001 |
| Scholarly communication | 0.000 | 0.001 |
| Open science | 0.000 | 0.001 |
| Research integrity | 0.001 | 0.001 |
| Insufficient payload (model declined to judge) | 0.002 | 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".