Idiopathic Infantile Hypercalcemia Presenting in Childhood but Diagnosed in Adulthood
Bibliographic record
Abstract
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 D3 (301 pg/mL) and an elevated ratio of 25-hydroxyvitamin D3 to 24,25-dihydroxyvitamin D3 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)2D3 1,25-dihydroxyvitamin D3 25-OH-D3 25-hydroxyvitamin D3 24,25-(OH)2D3 24,25-dihydroxyvitamin D3 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 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 | 0.004 | 0.037 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.001 | 0.000 |
| Bibliometrics | 0.000 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.001 |
| 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".