Suárez Isabelle, Roderus Lisa, van Gumpel Edeltraud, Jung Norma, Lehmann Clara, Fätkenheuer Gerd, Hartmann Pia, Plum Georg, Rybniker Jan
Department I of Internal Medicine, University Hospital of Cologne, Kerpener Str. 62, 50937, Cologne, Germany.
Center for Molecular Medicine Cologne, University of Cologne, 50931, Cologne, Germany.
Infection. 2017 Jun;45(3):341-347. doi: 10.1007/s15010-017-1005-4. Epub 2017 Mar 16.
Pneumocystis pneumonia (PCP) is an opportunistic and potentially life-threatening infection of immunocompromised individuals. A combination of trimethoprim-sulfamethoxazole is widely used for prophylaxis and treatment of PCP. Polymorphisms in the drug targets, the dihydropteroate synthase (DHPS) or the dihydrofolate reductase (DHFR) are presumably a reason for treatment failure.
We retrospectively examined the prevalence of DHPS and DHFR mutations in Pneumocystis jirovecii isolates obtained from HIV-infected and non-HIV-infected PCP patients. DHFR and DHPS genes were amplified using semi-nested PCR followed by sequencing. Obtained data were correlated with clinical findings.
Sequencing of the DHPS gene was achieved in 81 out of 128 isolates (63%), the DHFR-gene was successfully sequenced in 96 isolates (75%). The vast majority of DHFR and DHPS sequences were either wild-type or showed synonymous single nucleotide polymorphisms. Only one sample contained a double mutation at DHPS codon 55 and codon 57 which was associated with treatment failure in some studies. No linkage of treatment failure to a DHFR or DHPS genotype was observed. In our cohort, 35 of 95 Patients (37%) were HIV-positive and 60 (63%) were HIV-negative. The overall mortality rate was 24% with a much higher rate among non-HIV patients.
DHPS and DHFR mutations exist but are infrequent in our cohort. The contribution of gene polymorphisms to treatment failure needs further research. In immunocompromised HIV-negative patients PCP is associated with high mortality rates. Prophylactic treatment is warranted in this patient subset.
肺孢子菌肺炎(PCP)是免疫功能低下个体易患的一种机会性感染,可能危及生命。甲氧苄啶-磺胺甲恶唑联合用药广泛用于PCP的预防和治疗。药物靶点二氢蝶酸合酶(DHPS)或二氢叶酸还原酶(DHFR)的多态性可能是治疗失败的原因。
我们回顾性研究了从感染HIV和未感染HIV的PCP患者分离出的耶氏肺孢子菌中DHPS和DHFR突变的发生率。使用半巢式PCR扩增DHFR和DHPS基因,随后进行测序。将获得的数据与临床结果相关联。
128株分离株中有81株(63%)成功对DHPS基因进行了测序,96株(75%)成功对DHFR基因进行了测序。绝大多数DHFR和DHPS序列为野生型或显示同义单核苷酸多态性。只有一个样本在DHPS密码子55和密码子57处存在双突变,在一些研究中这与治疗失败有关。未观察到治疗失败与DHFR或DHPS基因型之间的联系。在我们的队列中,95例患者中有35例(37%)HIV阳性,60例(63%)HIV阴性。总死亡率为24%,非HIV患者的死亡率要高得多。
DHPS和DHFR突变存在,但在我们的队列中并不常见。基因多态性对治疗失败的影响需要进一步研究。在免疫功能低下的HIV阴性患者中,PCP与高死亡率相关。该患者亚组有必要进行预防性治疗。