The Key to a Boy’s Heart Is Through His Intestine

Jazayeri, Amir; Nonga, Dieudonne; Rao, Meenakshi

doi:10.1053/j.gastro.2019.08.056

Cited by 2 publications

(4 citation statements)

References 3 publications

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“…Based on the above evidence, we considered that his diagnosis of Crohn’s disease complicated with wet beriberi had been confirmed. However, thiamine supplementation was not an effective therapy for this patient, which was a conflicting result compared with Jazayeri’s report [ 20 ]. It was possible that short-term thiamine supplementation was not enough to recover organ function,besides, the use of a large dose of loop diuretics might lead to more the loss of thiamine in the therapeutic process.…”

Section: Discussionmentioning

confidence: 56%

“…Early HSCT might be a promising and effective therapy for these patients. Third, several studies have shown that micronutrient deficiencies in long-term Crohn’s disease patients are not common and usually result in a combination of reduced dietary intake, disease-related malabsorption and catabolic state [ 20 , 34 ]. Opportune supplementation with vitamins and minerals might prevent multiorgan function disturbances caused by nutrient deficiencies.…”

Section: Discussionmentioning

confidence: 99%

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Novel XIAP mutation with early-onset Crohn’s disease complicated with acute heart failure: a case report

Peng

Jiang

et al. 2023

BMC Cardiovasc Disord

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Background The X-linked inhibitor of apoptosis (XIAP) protein is encoded by the XIAP gene and is critical for multiple cell responses and plays a role in preventing cell death. XIAP mutations are associated with several diseases, primarily including hemophagocytic lymphohistiocytosis and inflammatory bowel disease (IBD). We report the clinical features and results associated with hemizygous mutation of the XIAP gene in a young male with Crohn’s disease complicated with acute heart failure.This 16-year-old patient ultimately died of heart failure. Case presentation A young male of 16 years of age was initially diagnosed with Crohn’s disease based on evidences from endoscopic and histological findings. Although supportive care, anti-infective drugs and biologics were administered consecutively for 11 months, his clinical manifestations and laboratory indices (patient’s condition) did not improved. Additionally, the patient exhibited a poor nutritional status and sustained weight loss. Subsequently, acute heart failure led to the exacerbation of the patient’s condition. He was diagnosed with wet beriberi according to thiamine deficiency, but the standard medical therapy for heart failure and thiamine supplementation did not reverse the adverse outcomes. Comprehensive genetic analysis of peripheral blood-derived DNA revealed a novel hemizygous mutation of the XIAP gene (c.1259_1262 delACAG), which was inherited from his mother. Conclusion A novel XIAP mutation (c.1259_1262 delACAG) was identified in this study. It may be one of the potential pathogenic factors in Crohn’s disease and plays an important role in the progression of heart failure. Additionally, thiamine deficiency triggers a vicious cycle.

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Section: Discussionmentioning

confidence: 56%

Section: Discussionmentioning

confidence: 99%

Novel XIAP mutation with early-onset Crohn’s disease complicated with acute heart failure: a case report

Peng

Jiang

et al. 2023

BMC Cardiovasc Disord

View full text Add to dashboard Cite

show abstract

“…However, thiamine supplementation was not an effective therapy for this patient, which was a con icting result compared with Jazayeri's report. 20 It is possible that shortterm thiamine supplementation was not enough to recover organ function and that the use of a large dose of loop diuretics might lead to more loss of thiamine in the therapeutic process. In Dinicolantonio's study, the prevalence of thiamine de ciency varied from 21-98% in patients with heart failure, and thiamine de ciency was also more prevalent in patients with diuretic use.…”

Section: Thiamine De Ciency Beriberi and Acute Heart Failurementioning

confidence: 99%

“…Third, several studies have shown that micronutrient de ciencies in long-term Crohn's disease patients are not common and usually result in a combination of reduced dietary intake, disease-related malabsorption, and a catabolic state. 20,30 Opportune supplementation with vitamins and minerals might prevent multiorgan function disturbances caused by nutrient de ciencies. Finally, the comprehensive pathogenesis of early-onset Crohn's disease related to XIAP mutations and differences between genotypes and phenotypes will be needed to elucidated by more intricate experiments in the future.…”

Section: Lessons Learned and Conclusionmentioning

confidence: 99%

Novel XIAP mutation in early-onset Crohn’s disease complicated with Acute Heart Failure: a case report

Peng

Jiang

et al. 2023

Preprint

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Background The X-linked inhibitor of apoptosis (XIAP) protein is encoded by the XIAP gene and is critical for multiple cell responses. XIAP plays a role in preventing cell death.We report the clinical features and results of hemizygous mutation of the XIAP gene in a young male died due to Crohn’s disease complicated with Acute Heart Failure.A young male of 16 years of age died due to no available therapy. Case presentation A young male of 16 years of age was initially diagnosed with Crohn's disease based on evidence from endoscopic and histological findings. Although supporting care, anti-infective drugs and biologics were applied consecutively for 11 months, his clinical manifestations and laboratory indices (patient’s condition) were not improved. This was followed by poor a nutritional status and sustained weight loss. Subsequently, acute heart failure ledto exacerbation of the patient’s condition. Therefore, he was diagnosed with wet beriberi according to thiamine deficiency, but standard medical therapy for heart failure and thiamine supplementation did notreverse the adverse outcomes. Finally, comprehensive genetic analysis of peripheral blood-derived DNA revealed a novel hemizygous mutation of the XIAP gene (c.1259_1262 delACAG), which was inherited from his mother. Conclusion The novel XIAP mutation (c.1259_1262 delACAG) was identified in this study. It may be an important cause of Crohn's disease and plays an important role in the progression of heart failure. Additionally,thiamine deficiency triggers avicious cycle.

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The Key to a Boy’s Heart Is Through His Intestine

Cited by 2 publications

References 3 publications

Novel XIAP mutation with early-onset Crohn’s disease complicated with acute heart failure: a case report

Novel XIAP mutation with early-onset Crohn’s disease complicated with acute heart failure: a case report

Novel XIAP mutation in early-onset Crohn’s disease complicated with Acute Heart Failure: a case report

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