Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation
This report presents the case of a 19-year-old female with longstanding polycythemia identified in childhood and systemic symptoms, including fatigue, reduced appetite, and chronic joint pain. Neurological examination was unremarkable. Genetic testing revealed a homozygous pathogenic variant in the...
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2025-01-01
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| Series: | Journal of Applied Hematology |
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| Online Access: | https://journals.lww.com/10.4103/joah.joah_7_25 |
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| author | Adel Fahad Almarzouki Wedyan Matar Alqurashi Atheer Mousa Alzahrani Shaimaa Hamza Banaji |
| author_facet | Adel Fahad Almarzouki Wedyan Matar Alqurashi Atheer Mousa Alzahrani Shaimaa Hamza Banaji |
| author_sort | Adel Fahad Almarzouki |
| collection | DOAJ |
| description | This report presents the case of a 19-year-old female with longstanding polycythemia identified in childhood and systemic symptoms, including fatigue, reduced appetite, and chronic joint pain. Neurological examination was unremarkable. Genetic testing revealed a homozygous pathogenic variant in the SLC30A10 gene, consistent with hypermanganesemia with dystonia. This condition, an autosomal recessive disorder, typically involves hematological, neurological, and hepatic systems. This case highlights the diagnostic and therapeutic challenges associated with managing systemic features in patients with SLC30A10 mutations. |
| format | Article |
| id | doaj-art-9acec294b90e48e49effe25f4536b0e3 |
| institution | OA Journals |
| issn | 1658-5127 2454-6976 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Applied Hematology |
| spelling | doaj-art-9acec294b90e48e49effe25f4536b0e32025-08-20T02:15:51ZengWolters Kluwer Medknow PublicationsJournal of Applied Hematology1658-51272454-69762025-01-01161818410.4103/joah.joah_7_25Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 MutationAdel Fahad AlmarzoukiWedyan Matar AlqurashiAtheer Mousa AlzahraniShaimaa Hamza BanajiThis report presents the case of a 19-year-old female with longstanding polycythemia identified in childhood and systemic symptoms, including fatigue, reduced appetite, and chronic joint pain. Neurological examination was unremarkable. Genetic testing revealed a homozygous pathogenic variant in the SLC30A10 gene, consistent with hypermanganesemia with dystonia. This condition, an autosomal recessive disorder, typically involves hematological, neurological, and hepatic systems. This case highlights the diagnostic and therapeutic challenges associated with managing systemic features in patients with SLC30A10 mutations.https://journals.lww.com/10.4103/joah.joah_7_25hypermagnesemiapolycythemiaslc30a10 |
| spellingShingle | Adel Fahad Almarzouki Wedyan Matar Alqurashi Atheer Mousa Alzahrani Shaimaa Hamza Banaji Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation Journal of Applied Hematology hypermagnesemia polycythemia slc30a10 |
| title | Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation |
| title_full | Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation |
| title_fullStr | Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation |
| title_full_unstemmed | Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation |
| title_short | Polycythemia and Systemic Manifestations in a 19-year-old Female with SLC30A10 Mutation |
| title_sort | polycythemia and systemic manifestations in a 19 year old female with slc30a10 mutation |
| topic | hypermagnesemia polycythemia slc30a10 |
| url | https://journals.lww.com/10.4103/joah.joah_7_25 |
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