| Autor: |
Antara Dattagupta, MD, MEng, Steven Petak, MD, JD |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
|
| Zdroj: |
AACE Clinical Case Reports, Vol 10, Iss 2, Pp 38-40 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2376-0605 |
| DOI: |
10.1016/j.aace.2023.11.006 |
| Popis: |
Background/Objective: Hypophosphatasia (HPP) is a rare disease associated with low serum alkaline phosphatase (ALP) activity. Here, we present a case of a patient with normal serum ALP levels diagnosed with HPP. Case Report: A 36-year-old woman presented with progressive fatigue, weakness, and joint pain. She had been evaluated in the past for genetic disorders due to these symptoms and was found to have a history of several total ALP levels within normal limits but elevated vitamin B6 levels. She also reported having loose teeth and “gray gums” during her childhood. Bone-specific ALP was tested for suspicion of HPP and returned at 4.4 μ/L (reference range, 5.3-19.5 μg/L), which prompted genetic testing. Genetic testing confirmed a positive pathogenetic variant of the ALPL gene, the c.542C>T (p.Ser181Leu) variant. She started asfotase alfa treatment to improve her symptoms. Discussion: HPP was diagnosed based on clinical suspicion supported by laboratory findings, which can cause it to be underdiagnosed or misdiagnosed. Current literature reports that a low total ALP level is the main biochemical marker of HPP and the only level needed to diagnose the disease. However, bone-specific ALP, a common marker used for bone turnover, has not been required to be tested. Conclusion: This case highlights a patient with normal total ALP, but low bone-specific ALP diagnosed with HPP confirmed by genetic testing. This case warrants future investigation into the diagnostic approach to HPP and the diagnostic utility between ALP and bone-specific ALP. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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