Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait
Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service m...
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2018/6898546 |
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| author | Nyamkhishig Sambuughin Mingqiang Ren John F. Capacchione Ognoon Mungunsukh Kevin Chuang Iren Horkayne-Szakaly Francis G. O’Connor Patricia A. Deuster |
| author_facet | Nyamkhishig Sambuughin Mingqiang Ren John F. Capacchione Ognoon Mungunsukh Kevin Chuang Iren Horkayne-Szakaly Francis G. O’Connor Patricia A. Deuster |
| author_sort | Nyamkhishig Sambuughin |
| collection | DOAJ |
| description | Individuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex phenotype. The service member was taking prescription medications known to be associated with exertional rhabdomyolysis. He carried a pathogenic mutation, NPHS2 p.V260E, reported in nephropathy and a new variant p.R838Q in SCN11A, a gene involved in familial episodic pain syndrome. Results suggest that drug-to-drug interactions coupled with the stress of exercise, coinheritance of HbAS and NPHS2 p.V260E, and p. R838Q in SCN11A contributed to exertional rhabdomyolysis, recurrent hematuria with proteinuria, and episodic pain, respectively. This case underscores the importance of comprehensive clinical and genetic evaluations to identify underlying causes of health complications reported in SCT individuals. |
| format | Article |
| id | doaj-art-8208ea04f1d44911a4d6f76253753be4 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-8208ea04f1d44911a4d6f76253753be42025-02-03T01:21:09ZengWileyCase Reports in Genetics2090-65442090-65522018-01-01201810.1155/2018/68985466898546Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell TraitNyamkhishig Sambuughin0Mingqiang Ren1John F. Capacchione2Ognoon Mungunsukh3Kevin Chuang4Iren Horkayne-Szakaly5Francis G. O’Connor6Patricia A. Deuster7Consortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USAConsortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USADepartment of Anesthesiology, University of Minnesota, 420 Delaware St SE, Minneapolis, MN 55455, USADepartment of Anesthesiology, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20814, USAConsortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USAJoint Pathology Center, Defense Health Agency, 606 Stephen Sitter Ave, Silver Spring, MD 20910, USAConsortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USAConsortium for Health and Military Performance, Department of Military and Emergency Medicine, Hébert School of Medicine, Uniformed Services University, 4301 Jones Bridge Rd., Bethesda, MD 20184, USAIndividuals with Sickle Cell Trait (SCT), generally considered a benign carrier state of hemoglobin S (HbAS), are thought to be at risk for exertional rhabdomyolysis and hematuria, conditions that can also be caused by various other acquired and inherited factors. We report an SCT positive service member with an exertional rhabdomyolysis event, recurrent hematuria with transient proteinuria, and episodic burning pain in the lower extremities. Clinical and genetic studies revealed the multifactorial nature of his complex phenotype. The service member was taking prescription medications known to be associated with exertional rhabdomyolysis. He carried a pathogenic mutation, NPHS2 p.V260E, reported in nephropathy and a new variant p.R838Q in SCN11A, a gene involved in familial episodic pain syndrome. Results suggest that drug-to-drug interactions coupled with the stress of exercise, coinheritance of HbAS and NPHS2 p.V260E, and p. R838Q in SCN11A contributed to exertional rhabdomyolysis, recurrent hematuria with proteinuria, and episodic pain, respectively. This case underscores the importance of comprehensive clinical and genetic evaluations to identify underlying causes of health complications reported in SCT individuals.http://dx.doi.org/10.1155/2018/6898546 |
| spellingShingle | Nyamkhishig Sambuughin Mingqiang Ren John F. Capacchione Ognoon Mungunsukh Kevin Chuang Iren Horkayne-Szakaly Francis G. O’Connor Patricia A. Deuster Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait Case Reports in Genetics |
| title | Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait |
| title_full | Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait |
| title_fullStr | Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait |
| title_full_unstemmed | Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait |
| title_short | Multifactorial Origin of Exertional Rhabdomyolysis, Recurrent Hematuria, and Episodic Pain in a Service Member with Sickle Cell Trait |
| title_sort | multifactorial origin of exertional rhabdomyolysis recurrent hematuria and episodic pain in a service member with sickle cell trait |
| url | http://dx.doi.org/10.1155/2018/6898546 |
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