Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis
We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as e...
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| Format: | Article |
| Language: | English |
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Wiley
2012-01-01
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| Series: | Case Reports in Endocrinology |
| Online Access: | http://dx.doi.org/10.1155/2012/238364 |
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| _version_ | 1849684659465617408 |
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| author | Zahi Mitri Vin Tangpricha |
| author_facet | Zahi Mitri Vin Tangpricha |
| author_sort | Zahi Mitri |
| collection | DOAJ |
| description | We report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent with high bone mass found on bone mineral density reports. PHEX gene mutation analysis was negative. Patient was started on calcium and phosphorus replacement, and he clinically improved. This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia. |
| format | Article |
| id | doaj-art-c0e7f53cc72045ce8419b7ecc95603a1 |
| institution | DOAJ |
| issn | 2090-6501 2090-651X |
| language | English |
| publishDate | 2012-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Endocrinology |
| spelling | doaj-art-c0e7f53cc72045ce8419b7ecc95603a12025-08-20T03:23:24ZengWileyCase Reports in Endocrinology2090-65012090-651X2012-01-01201210.1155/2012/238364238364Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential DiagnosisZahi Mitri0Vin Tangpricha1Department of Medicine, Emory University School of Medicine, 101 Woodruff Circle NE, Atlanta, GA 30322, USADepartment of Medicine, Emory University School of Medicine, 101 Woodruff Circle NE, Atlanta, GA 30322, USAWe report the case of a 30-year-old African-American male with osteopetrosis and hypophosphatemia, presenting with diffuse myalgias. Laboratory evaluation performed revealed a low serum phosphorus level with urinary phosphate wasting, low calcium, and 25-hydroxyvitamin D concentrations, as well as elevated alkaline phosphatase. Skull and pelvic radiographs revealed high bone density consistent with high bone mass found on bone mineral density reports. PHEX gene mutation analysis was negative. Patient was started on calcium and phosphorus replacement, and he clinically improved. This paper will review the different subtypes of osteopetrosis, and the evaluation of hypophosphatemia.http://dx.doi.org/10.1155/2012/238364 |
| spellingShingle | Zahi Mitri Vin Tangpricha Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis Case Reports in Endocrinology |
| title | Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis |
| title_full | Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis |
| title_fullStr | Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis |
| title_full_unstemmed | Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis |
| title_short | Osteopetrosis, Hypophosphatemia, and Phosphaturia in a Young Man: A Case Presentation and Differential Diagnosis |
| title_sort | osteopetrosis hypophosphatemia and phosphaturia in a young man a case presentation and differential diagnosis |
| url | http://dx.doi.org/10.1155/2012/238364 |
| work_keys_str_mv | AT zahimitri osteopetrosishypophosphatemiaandphosphaturiainayoungmanacasepresentationanddifferentialdiagnosis AT vintangpricha osteopetrosishypophosphatemiaandphosphaturiainayoungmanacasepresentationanddifferentialdiagnosis |