HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW
Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose. We present two clinical observations: in one case, the patient w...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Endocrinology Research Centre
2015-12-01
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| Series: | Остеопороз и остеопатии |
| Subjects: | |
| Online Access: | https://endojournals.ru/index.php/osteo/article/view/8912 |
| _version_ | 1818454776026759168 |
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| author | S S Rodionova E Yu Zakharova Yu V Buklemishev U R Khakimov S V Lapkina |
| author_facet | S S Rodionova E Yu Zakharova Yu V Buklemishev U R Khakimov S V Lapkina |
| author_sort | S S Rodionova |
| collection | DOAJ |
| description | Hypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose. We present two clinical observations: in one case, the patient was treated for a long time with alfacalcidol and calcium supplementation due to misdiagnosis of systemic osteoporosis with pathologic fractures of the vertebras, although at the presentation the patient had a typical for hypophosphatasia decrease of alkaline phosphatase. In another case, a patient with diagnosis of aseptic necrosis of the femoral head had a sharp decrease in alkaline phosphatase levels at presurgical evaluation. In both cases, the diagnosis was confirmed by genetic testing. For patients with aseptic necrosis the confirmation of the diagnosis of hypophosphatasia determines the need for treatment with asfotase alfa in the postoperative period to preserve the stability of the endoprosthesis. |
| first_indexed | 2024-12-14T22:00:15Z |
| format | Article |
| id | doaj.art-f95cc8ff82964dd6ace6364b3741e83a |
| institution | Directory Open Access Journal |
| issn | 2072-2680 2311-0716 |
| language | English |
| last_indexed | 2024-12-14T22:00:15Z |
| publishDate | 2015-12-01 |
| publisher | Endocrinology Research Centre |
| record_format | Article |
| series | Остеопороз и остеопатии |
| spelling | doaj.art-f95cc8ff82964dd6ace6364b3741e83a2022-12-21T22:46:01ZengEndocrinology Research CentreОстеопороз и остеопатии2072-26802311-07162015-12-01182252810.14341/osteo2015225-287957HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEWS S Rodionova0E Yu Zakharova1Yu V Buklemishev2U R Khakimov3S V Lapkina4ФГБУ «ЦИТО им. Н.Н. Приорова» МЗ РФМедико-генетический научный центрФГБУ «ЦИТО им. Н.Н. Приорова» МЗ РФФГБУ «ЦИТО им. Н.Н. Приорова» МЗ РФФГБУ «ЦИТО им. Н.Н. Приорова» МЗ РФHypophosphatasia is a rare inborn error of metabolism caused by mutations in the gene encoding tissue-nonspecific isoenzyme of alkaline phosphatase. Inexpressive clinical picture of the disease in adults is often difficult to diagnose. We present two clinical observations: in one case, the patient was treated for a long time with alfacalcidol and calcium supplementation due to misdiagnosis of systemic osteoporosis with pathologic fractures of the vertebras, although at the presentation the patient had a typical for hypophosphatasia decrease of alkaline phosphatase. In another case, a patient with diagnosis of aseptic necrosis of the femoral head had a sharp decrease in alkaline phosphatase levels at presurgical evaluation. In both cases, the diagnosis was confirmed by genetic testing. For patients with aseptic necrosis the confirmation of the diagnosis of hypophosphatasia determines the need for treatment with asfotase alfa in the postoperative period to preserve the stability of the endoprosthesis.https://endojournals.ru/index.php/osteo/article/view/8912гипофосфатазия щелочная фосфатазатканеспецифическая щелочная фосфатазаметаболические остеопатииостеопорозостеомаляция |
| spellingShingle | S S Rodionova E Yu Zakharova Yu V Buklemishev U R Khakimov S V Lapkina HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW Остеопороз и остеопатии гипофосфатазия щелочная фосфатаза тканеспецифическая щелочная фосфатаза метаболические остеопатии остеопороз остеомаляция |
| title | HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW |
| title_full | HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW |
| title_fullStr | HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW |
| title_full_unstemmed | HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW |
| title_short | HYPOPHOSPHATASIA IN ADULTS: CLINICAL CASES AND LITERATURE REVIEW |
| title_sort | hypophosphatasia in adults clinical cases and literature review |
| topic | гипофосфатазия щелочная фосфатаза тканеспецифическая щелочная фосфатаза метаболические остеопатии остеопороз остеомаляция |
| url | https://endojournals.ru/index.php/osteo/article/view/8912 |
| work_keys_str_mv | AT ssrodionova hypophosphatasiainadultsclinicalcasesandliteraturereview AT eyuzakharova hypophosphatasiainadultsclinicalcasesandliteraturereview AT yuvbuklemishev hypophosphatasiainadultsclinicalcasesandliteraturereview AT urkhakimov hypophosphatasiainadultsclinicalcasesandliteraturereview AT svlapkina hypophosphatasiainadultsclinicalcasesandliteraturereview |