Abstract
Leishmaniasis is a vector-borne disease caused by Leishmania. Although the incidence of leishmaniasis in China is currently low, it has not been completely eradicated. In 2019, visceral leishmaniasis was diagnosed in three patients using bone marrow microscopic examination and metagenomic next-generation sequencing (mNGS). The bone marrow mNGS results from the three patients indicated that 99.9, 99.6, and 30.3% of non-human reads matched the Leishmania genome, and plasma mNGS results from one of the patients revealed that 46.2% of non-human reads matched the Leishmania genome. In the second patient's plasma, no Leishmania sequences were detected by plasma mNGS, and the third patient's plasma was unavailable. The pathogen in all three patients was identified as Leishmania infantum. Leishmania amastigotes were observed by microscopic examination of bone marrow smears in all three patients, but were not found in peripheral blood smears. This indicates that the sensitivity of mNGS is higher than that of smear microscopy and that mNGS can be used to identify Leishmania at the species level. All three patients were elderly male farmers, two from Shanxi and one from Beijing. All three patients had splenomegaly and pancytopenia. Originally, these patients were misdiagnosed and treated for extended periods in other hospitals. Diagnoses of visceral leishmaniasis took place 6, 2, and 2 months after the onset of symptoms in the three patients. In conclusion, this study confirms that bone marrow mNGS can be used to quickly and accurately confirm a diagnosis in patients with suspected leishmaniasis.
Highlights
Leishmaniasis is a zoonotic disease caused by Leishmania that is transmitted between arthropods and mammals
Patients who were suspected to have leishmaniasis by their clinicians were assessed by bone marrow microscopy and metagenomic next-generation sequencing (mNGS) analysis
We found a total of three patients with visceral leishmaniasis
Summary
Leishmaniasis is a zoonotic disease caused by Leishmania that is transmitted between arthropods and mammals. There are ∼0.2–0.4 million cases of visceral leishmaniasis, 0.7–1.2 million cases of cutaneous leishmaniasis and ∼20,000–40,000 leishmaniasis-related deaths (Alvar et al, 2012). Visceral leishmaniasis has existed in China for at least 120 years (Lun et al, 2015). In 2000, the incidence of visceral leishmaniasis in Xinjiang, Gansu, and Sichuan, China was ∼1, ∼0.5, and ∼0.7 per 100,000, respectively (Lun et al, 2015). In 2011, the incidence of visceral leishmaniasis was 0.03 per 100,000 in China (Lun et al, 2015). From 2002 to 2011, a total of 3,169 visceral leishmaniasis cases were reported throughout China, with approximately 140 to 509 cases per year
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