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The mystery of Kesman syndrome: Why are newborn babies exposed to a deadly infection?
Kostmann syndrome, also known as Severe congenital neutropenia (SCN), is a rare genetic disease whose main feature is due to the hematopoietic process. disorders, resulting in significant health risks for newborn babies during their lifetime. The disease is especially dangerous for babies: They are frequently plagued by fatal bacterial infections, a phenomenon that has drawn widespread attention and research to Kersmann syndrome.
Kersmann syndrome causes babies to develop severe bacterial infections at an early age, particularly Staphylococcus aureus, which often leads to skin abscesses, pneumonia, and sepsis.
Cause and genetics
The genetic profile of Kersmann syndrome is complex: some subtypes are inherited as auto-dominant forms (e.g. SCN1), while others are inherited as auto-recessive forms (e.g. SCN3). About 60 to 80 percent of cases are SCN1, a subtype caused by mutations in the ELANE gene located on 19p13.3, which is key to the production of neutrophil elastase.
Even if some cases of Kersmann syndrome are not genetically confirmed, genetic testing can still identify up to 15 mutations.
Symptoms and diagnosis
Symptoms of Kersmann syndrome usually begin in infancy. Approximately 50% of patients will experience a life-threatening infection within the first month of life. The diagnostic process usually includes comprehensive blood testing and genetic testing to confirm neutrophil deficiency.
The absolute neutrophil count (ANC), often less than 500/mm3 and often less than 200/mm3, is the main indicator of Kersmann syndrome.
Treatment methods
Currently, the mainstream treatment for Kersmann syndrome is regular injections of granulosa cell stimulating factor (filgrastim), which can significantly increase the number of neutrophils and reduce the frequency and severity of infections. More than 90% of SCN patients respond well to this treatment modality, with survival rates significantly improved.
However, long-term use of granulosa cell stimulating factors may also increase the risk of acute myeloid leukemia and myelofibrosis.
Long-term risks of Kersmann syndrome
Not all people with Kersmann syndrome escape long-term health risks after receiving treatment. Although treatment improves short-term survival, there is still a risk of developing clonal blood disorders (eg, myelodysplastic syndrome) and acute myeloid leukemia. Therefore, health monitoring of these patients needs to be ongoing to detect potential complications early.
Summary
The exploration of Kersmann syndrome reveals the challenges newborns face in dealing with a deadly infection, not just a scientific question but a humanitarian appeal. We need to better understand the impact of this rare disease and how to better provide medical support and quality of life for patients with this disease. Faced with such a serious challenge, we can't help but think: What can we do to alleviate the suffering of these little lives?
