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DOI 10.3389/fgene.2022.936264

Медицинская библиотека · Frontiers in genetics · 2022

Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia.

Wang Yurong, Liu Ling, Tan Chen, Meng Guiquan, Meng Lanlan, Nie Hongchuan, Du Juan, Lu Guang-Xiu, Lin Ge, He Wen-Bin, Tan Yue-Qiu

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Аннотация

BACKGROUND Legionella infection is a common cause of atypical pneumonia, known as Legionnaires' disease when infection extends to extrapulmonary involvement, which often leads to hospitalization. The triad of Legionella pneumonia, rhabdomyolysis, and renal failure displays a rare yet fatal complication without prompt management. CASE REPORT Our patient was a 62-year-old man with no significant medical history who developed Legionnaires' disease with severely elevated creatinine phosphokinase (CPK) of 9614 mcg/L, consistent with rhabdomyolysis. He experienced severe headache, anorexia, and hematuria, which prompted him to seek medical care. Pertinent social history included recent flooding in his neighborhood, which surrounded the outer perimeter of his home. His clinical manifestations and laboratory findings were consistent with Legionella infection, with concomitant acute kidney injury. A chest X-ray revealed hazy left perihilar opacities concerning for atypical pneumonia. Immediate interventions of hydration and antigen-directed azithromycin were initiated to prevent rapid decompensation. His clinical symptoms resolved without further complications, and he was not transferred to the Intensive Care Unit (ICU). CONCLUSIONS Legionella-induced rhabdomyolysis is an uncommon association that can lead to acute kidney failure and rapid clinical deterioration. Early and aggressive management with fluid repletion and appropriate antibiotics can improve clinical manifestations and hospital length of stay. Our patient's reduction in CPK levels and clinical improvement confirmed that extrapulmonary involvement in Legionella infection can lead to rhabdomyolysis. It is important for healthcare providers to recognize the clinical triad of Legionella pneumonia, rhabdomyolysis, and renal failure as prompt and timely management to reduce associated morbidity.

Для цитирования: Wang Yurong, Liu Ling, Tan Chen, Meng Guiquan, Meng Lanlan, Nie Hongchuan, Du Juan, Lu Guang-Xiu, Lin Ge, He Wen-Bin, Tan Yue-Qiu. Novel MEIOB variants cause primary ovarian insufficiency and non-obstructive azoospermia.. Frontiers in genetics. 2022. DOI: 10.3389/fgene.2022.936264.
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