A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome
Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of...
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| Format: | Article |
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Frontiers Media S.A.
2022-05-01
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| Series: | Frontiers in Endocrinology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fendo.2022.866831/full |
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| author | Lea Maria Merz Florian Buerger Niels Ziegelasch Martin Zenker Ilse Wieland Tobias Lipek Tillmann Wallborn Nicolas Terliesner Freerk Prenzel Manuela Siekmeyer Katalin Dittrich |
| author_facet | Lea Maria Merz Florian Buerger Niels Ziegelasch Martin Zenker Ilse Wieland Tobias Lipek Tillmann Wallborn Nicolas Terliesner Freerk Prenzel Manuela Siekmeyer Katalin Dittrich |
| author_sort | Lea Maria Merz |
| collection | DOAJ |
| description | Epidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose. |
| first_indexed | 2024-12-12T20:58:38Z |
| format | Article |
| id | doaj.art-219374aca3734a2791dc9d90aa316406 |
| institution | Directory Open Access Journal |
| issn | 1664-2392 |
| language | English |
| last_indexed | 2024-12-12T20:58:38Z |
| publishDate | 2022-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Endocrinology |
| spelling | doaj.art-219374aca3734a2791dc9d90aa3164062022-12-22T00:12:13ZengFrontiers Media S.A.Frontiers in Endocrinology1664-23922022-05-011310.3389/fendo.2022.866831866831A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia SyndromeLea Maria Merz0Florian Buerger1Niels Ziegelasch2Martin Zenker3Ilse Wieland4Tobias Lipek5Tillmann Wallborn6Nicolas Terliesner7Freerk Prenzel8Manuela Siekmeyer9Katalin Dittrich10Department of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, GermanyBoston Children’s Hospital, Harvard Medical School, Boston, MA, United StatesDepartment of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, GermanyFaculty of Medicine, University Hospital Magdeburg, Magdeburg, GermanyFaculty of Medicine, University Hospital Magdeburg, Magdeburg, GermanyDepartment of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, GermanyDepartment of Pediatric Nephrology, St. Georg Hospital, Leipzig, GermanyDepartment of Pediatric Nephrology, Charité Universitätsmedizin Berlin, Berlin, GermanyDepartment of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, GermanyDepartment of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, GermanyDepartment of Pediatric Nephrology and Pulmonology, University Hospital Leipzig, Leipzig, GermanyEpidermal nevus syndromes encompass a highly heterogeneous group of systemic disorders, characterized by epidermal nevi, and a spectrum of neuromuscular, ocular, and bone abnormalities. Cutaneous-skeletal hypophosphatemia syndrome (CSHS) constitutes a specific sub-entity in which elevated levels of fibroblast growth factor-23 cause hypophosphatemic rickets that are, to date, not amenable to causal therapy. Here, we report the first long-term follow-up of causal treatment with burosumab in a 3-year-old female patient with CSHS. 4 weeks after initiation of burosumab treatment, serum phosphate normalized to age-appropriate levels. Furthermore, long-term follow-up of 42 months revealed significant improvement of linear growth and gross physical functions, including respiratory insufficiency. Radiographic rickets severity as well as subjective bone pain were strongly reduced, and no side effects were observed over the course of treatment. In summary, we, here, report about a successful treatment of hypophosphatemic rickets in CSHS with burosumab over the time course of 42 months. In our patient, burosumab showed convincing efficacy and safety profile, without any loss of effect or increase of dose.https://www.frontiersin.org/articles/10.3389/fendo.2022.866831/fullburosumabepidermal nevus syndromecutaneous-skeletal-hypophosphatemia-syndromehypophosphatemic ricketshypophosphatemia |
| spellingShingle | Lea Maria Merz Florian Buerger Niels Ziegelasch Martin Zenker Ilse Wieland Tobias Lipek Tillmann Wallborn Nicolas Terliesner Freerk Prenzel Manuela Siekmeyer Katalin Dittrich A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome Frontiers in Endocrinology burosumab epidermal nevus syndrome cutaneous-skeletal-hypophosphatemia-syndrome hypophosphatemic rickets hypophosphatemia |
| title | A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome |
| title_full | A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome |
| title_fullStr | A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome |
| title_full_unstemmed | A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome |
| title_short | A Case Report: First Long-Term Treatment With Burosumab in a Patient With Cutaneous-Skeletal Hypophosphatemia Syndrome |
| title_sort | case report first long term treatment with burosumab in a patient with cutaneous skeletal hypophosphatemia syndrome |
| topic | burosumab epidermal nevus syndrome cutaneous-skeletal-hypophosphatemia-syndrome hypophosphatemic rickets hypophosphatemia |
| url | https://www.frontiersin.org/articles/10.3389/fendo.2022.866831/full |
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