AI Article Synopsis
- - Hypophosphatasia (HPP) is a rare genetic condition that leads to insufficient bone mineralization and results in symptoms like low alkaline phosphatase levels and high urinary pyrophosphate excretion.
- - Nephrocalcinosis, often linked to HPP, arises from high calcium and phosphate levels but the exact nature of the resulting calcifications is unclear.
- - A 12-year-old boy was newly diagnosed with HPP after a magnesium pyrophosphate urinary stone was found; researchers recommend including infrared spectra of pyrophosphate salts in stone analysis labs for better identification of such rare stones.
Article Abstract
Hypophosphatasia (HPP) is a rare genetic condition associated with poor bone mineralization, low serum alkaline phosphatase, high urinary pyrophosphate excretion, and nephrocalcinosis. Nephrocalcinosis is thought to develop due to the increased filtered loads associated with hypercalcemia and hyperphosphatemia, but the composition of these calcifications is incompletely understood. We report the first ever magnesium pyrophosphate (MgPPi) urinary stone, which prompted the new diagnosis of HPP in a 12-year-old boy. Stone analysis labs should include infrared spectra of PPi salts in their reference libraries to facilitate identification of these rare but clinically important stones.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11292424 | PMC |
| http://dx.doi.org/10.1016/j.eucr.2024.102791 | DOI Listing |
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