Vitamin D-dependent Rickets Type 1A: Recognizing Clinical Clues to Avoid Delayed Diagnosis
Pedro Arthur da Rocha Ribas, Victoria Zeghbi Cochenski Borba · 2026
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Description
Pedro Arthur da Rocha Ribas and Victoria Zeghbi Cochenski Borba report a case of vitamin D dependent rickets type 1A found only in adulthood, and urge sharper clue spotting. The rare inherited form stems from gene flaws that block active vitamin D making. The report came out in twenty twenty-six.
A woman was labeled with resistant rickets as a baby and bore motor delay, bent bones, and many bone surgeries. At twenty five, gene tests found a matched pair flaw in the key gene. Care with active vitamin D and minerals steadied her blood values over a year. Bent bones stayed. The authors stress early lab and gene checks.
Catalog record
| CREATOR | Pedro Arthur da Rocha Ribas, Victoria Zeghbi Cochenski Borba |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 30 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |