A Cohort of 169 Chronic Granulomatous Disease Patients Exposed to BCG Vaccination: a Retrospective Study from a Single Center in Shanghai, China (2004–2017)
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Clinical diagnosis and treatment for chronic granulomatous disease (CGD) have advanced greatly in recent years. However, CGD patients in China have unique clinical features and infection spectrums, which are challenging to their caretakers. Here, we summarized the clinical characteristics, genetic features, treatment, and prognosis of CGD in a single center in Shanghai.
One hundred sixty-nine CGD patients were recruited between January 2004 and May 2017 based on clinical diagnosis. Electronic medical charts were reviewed to collect clinical data.
Among the 169 patients recruited, CYBB mutations were identified in 150 cases, whereas CYBA mutations were identified in 7 cases, NCF1 in 5, and NCF2 in 7. The medium age at onset was 1 month (interquartile range 1–3). The medium age at diagnosis was 8 months (interquartile range 3–19). The most common infection sites were the lung (95.9%), lymph node (58.5%), skin (45.4%), intestinal (43.1%), and perianal (38.5%). Bacillus Calmette-Guérin (BCG) infections were common (59.2%). In addition, other non-infectious complications were also common, including anemia (55.4%) and impaired liver functions (34.6%). Thirty-one patients received stem cell transplantation. By the end of this study, 83/131 patients survived.
Similar to other non-consanguineous populations, X-linked CGD accounted for the majority of the cases in China. However, BCG infections were a clinical challenge unique to China. In addition, severe infections were the major cause of death and the overall mortality was still high in China.
KeywordsChronic granulomatous disease Bacillus Calmette-Guérin infection infectious complication non-infectious complication
We thank the patients and their families for their cooperation.
W.X.C., S.J.Q., Z.Q.H., and H.X.Y. designed the study. W.X.C., S.J.Q., H.J., W.W.J., Z.Q.H., H.X.Y., and Y.W.J. diagnosed, treated, and followed up these patients. L.D.R., Y.Y.H., and W.J.Y. performed the DHR analysis and gp91 protein detection. L.D.R. and W.Y. performed the gene analysis. Z.Q.H. and H.X.Y. abstracted the information from the electronic medical chart and follow-up material, and did the telephone interview. Z.Q.H. wrote the first draft. W.X.C., Z.Q., S.J.Q., Z.Q.H., and H.X.Y. reviewed and revised the manuscript. W.X.C. supervised the whole process of the study.
This study was supported by grants from the National Natural Science Foundation of China (81373221, 81172877, and 81501419).
Compliance with Ethical Standards
The study was approved by the ethic committee of the Children’s Hospital of Fudan University.
Conflict of Interest
The authors declare that they have no competing interests.
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