دورية أكاديمية
Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review
| العنوان: | Rare Coexistence of Acute Intermittent Porphyria With Systemic Lupus Erythematous: Case Report and Literature Review |
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| المؤلفون: | Asmaa Yusuf MD, Omar Alhaj MD, Afra Aldaheri MD, Aisha AlShamsi MD, Mozah AlMarshoodi MD, Fatima AlKindi MD, Farooqi Mohammed MD, Raya Almazrouei MD |
| المصدر: | Journal of Investigative Medicine High Impact Case Reports, Vol 11 (2023) |
| بيانات النشر: | SAGE Publishing, 2023. |
| سنة النشر: | 2023 |
| المجموعة: | LCC:Medicine (General) LCC:Pathology |
| مصطلحات موضوعية: | Medicine (General), R5-920, Pathology, RB1-214 |
| الوصف: | Porphyrias, particularly acute intermittent porphyria (AIP), are rare, inherited disorders of heme synthesis. On the other hand, systemic lupus erythematosus (SLE) is an uncommon autoimmune disease that affects women predominantly. The coexistence of AIP and SLE is rare. We report a case of concomitant diagnosis of AIP and SLE in a 21-year-old woman who presented with recurrent acute abdominal, chest, and back pain associated with nausea and vomiting, followed by arthralgia, multiple joint pain, and rash. Investigations revealed severe hyponatremia related to SIADH (syndrome of inappropriate antidiuretic hormone secretion) with a positive SLE antibody panel and a positive urine screen for porphobilinogen. Molecular test confirmed the diagnosis of AIP with a pathogenic mutation in the HMBS gene. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 2324-7096 23247096 |
| العلاقة: | https://doaj.org/toc/2324-7096Test |
| DOI: | 10.1177/23247096231181856 |
| الوصول الحر: | https://doaj.org/article/c41f3256ad62418080c2f0f97932a663Test |
| رقم الانضمام: | edsdoj.41f3256ad62418080c2f0f97932a663 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 23247096 |
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| DOI: | 10.1177/23247096231181856 |