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Case Reports
. 2020 Oct 2;20(1):456.
doi: 10.1186/s12887-020-02359-4.

Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report

Ru-Yue Chen  1 , Xiao-Zhong Li  2 , Qiang Lin  1 , Yun Zhu  1 , Yun-Yan Shen  1 , Qin-Ying Xu  1 , Xue-Ming Zhu  3 , Zhen-Jiang Bai  4 , Ying Li  4
Affiliations
Case Reports

Epstein-Barr virus-related hemophagocytic lymphohistiocytosis complicated with coronary artery dilation and acute renal injury in a boy with a novel X-linked inhibitor of apoptosis protein (XIAP) variant: a case report

Ru-Yue Chen et al. BMC Pediatr. .

Abstract

Background: X-linked lymphoproliferative disease (XLP) is a rare inherited X-linked primary immunodeficiency diseases (PID). One such disease, X-linked inhibitor of apoptosis protein (XIAP) deficiency, is characterized by Epstein-Barr virus-related hemophagocytic lymphohistiocytosis (EBV-HLH). However, EBV-HLH with coronary artery dilation and acute renal injury (AKI) in children is unusual.

Case presentation: We report the case of a young boy aged 17 months with a novel XIAP variant. He was initially diagnosed with EBV-HLH based on the HLH-2004 diagnostic criteria and the condition was accompanied by coronary artery dilation and acute renal injury. The comprehensive genetic analysis of peripheral blood-derived DNA revealed a hemizygous variant of the XIAP gene [c.116G > C(p.G39A)], which was inherited from his mother (heterozygous condition). After combined treatment with rituximab, intravenous immunoglobulin, corticosteroids, antiviral drugs, and mycophenolate mofetil (MMF) in addition to supportive therapy, his clinical manifestations and laboratory indexes were improved. The patient achieved complete remission with MMF treatment in the 8-month follow-up.

Conclusions: We report the [c.116G > C(p.G39A)] variant in the XIAP gene for the first time in a case of XLP-2 associated with EBV-HLH. For male patients with severe EBV-HLH, the possibility of XLP should be considered and molecular genetic testing should be used early in auxiliary diagnosis. Reports of EBV-HLH with coronary artery dilation and AKI in children are rare. In the patients with EBV-HLH, color Doppler echocardiography and urine tests should be monitored regularly. If necessary, renal biopsy can be performed to clarify the pathology. Treatment with rituximab, immunosuppressors and supportive therapy achieved a good effect, but long-term follow-up is required.

Keywords: Acute renal injury (AKI); Coronary artery dilatation; Epstein–Barr virus (EBV); Hemophagocytic lymphohistiocytosis (HLH); X-linked inhibitor of apoptosis protein (XIAP).

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Conflict of interest statement

The authors declare that there is no conflict of interest.

Figures

Fig. 1
Fig. 1
Immunofluorescence of renal biopsy (× 100). Focal deposition of immunoglobulin-M in glomerular mesangium and capillary loops
Fig. 2
Fig. 2
Light microscopy of renal biopsy (×100). Mild mesangial hyperplasia in glomeruli; vacuolar degeneration and atrophy of epithelial cells in some renal tubules; chronic inflammation of stroma, scattered infiltration of lymphocytes and slight hyperplasia of fibers
Fig. 3
Fig. 3
Electron microscopy of renal biopsy (× 10,000). Glomerular capillary basement membrane are thin segmentally (160–280 nm)
See this image and copyright information in PMC

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