E-ISSN 1658-8088 | ISSN 1658-807X
 

Case Report

Online Publishing Date:
01 / 01 / 2019

 


Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis

Mazhor Aldosary, Maha Al-Otaibi, Fatima Al-Fadhli , Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain.


Abstract
Background: Hemophagocytic lymphohistiocytosis (HLH) is a hyper-inflammatory condition resulting from altered crosstalk between innate and adaptive immune responses. Familial HLH is caused by mutations in several genes whereas the acquired form is associated with infections, rheumatic diseases, malignancies, and inherited metabolic disorders.

Case Presentation: We report an infant boy who developed HLH and the potential involvement of mitochondrial DNA in pathogenicity. This patient was with evidence of mitochondrial disease based on neonatal-onset lactic acidosis, elevated lactate in cerebrospinal fluid, a significant lactate peak on magnetic resonance spectroscopy, and generalized reduction of multiple respiratory chain enzyme complex activities. In addition, full mitochondrial genome sequencing only revealed the identification of the homoplasmic m.4325A>G mutation. Subsequently, he presented with a febrile illness complicated by HLH.

Conclusion: Elevated levels of lactic acidosis and mitochondrial dysfunction strengthen the involvement of mitochondria in causing secondary HLH in our patient.

Key words: Hemophagocytic lymphohistiocytosis, mitochondrial dysfunction, inherited metabolic.


 
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How to Cite this Article
Pubmed Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics. 2019; 2(1): 81-84. doi:10.24911/JBCGenetics/183-1543238438


Web Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. https://www.jbcgenetics.com/?mno=18963 [Access: March 14, 2024]. doi:10.24911/JBCGenetics/183-1543238438


AMA (American Medical Association) Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics. 2019; 2(1): 81-84. doi:10.24911/JBCGenetics/183-1543238438



Vancouver/ICMJE Style

Aldosary M, Al-Otaibi M, FA, Kaya N, Sulaiman R, Al-Owain M, . Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics. (2019), [cited March 14, 2024]; 2(1): 81-84. doi:10.24911/JBCGenetics/183-1543238438



Harvard Style

Aldosary, M., Al-Otaibi, . M., , . F. A., Kaya, . N., Sulaiman, . R., Al-Owain, . M. & (2019) Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. JBCGenetics, 2 (1), 81-84. doi:10.24911/JBCGenetics/183-1543238438



Turabian Style

Aldosary, Mazhor, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain, and . 2019. Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. Journal of Biochemical and Clinical Genetics, 2 (1), 81-84. doi:10.24911/JBCGenetics/183-1543238438



Chicago Style

Aldosary, Mazhor, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain, and . "Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis." Journal of Biochemical and Clinical Genetics 2 (2019), 81-84. doi:10.24911/JBCGenetics/183-1543238438



MLA (The Modern Language Association) Style

Aldosary, Mazhor, Maha Al-Otaibi, Fatima Al-Fadhli, Namik Kaya, Raashda Sulaiman, Mohammed Al-Owain, and . "Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis." Journal of Biochemical and Clinical Genetics 2.1 (2019), 81-84. Print. doi:10.24911/JBCGenetics/183-1543238438



APA (American Psychological Association) Style

Aldosary, M., Al-Otaibi, . M., , . F. A., Kaya, . N., Sulaiman, . R., Al-Owain, . M. & (2019) Involvement of mitochondrial dysfunction in pathogenesis of hemophagocytic lymphohistiocytosis. Journal of Biochemical and Clinical Genetics, 2 (1), 81-84. doi:10.24911/JBCGenetics/183-1543238438





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