每日一题_2023.03.16

A mother brings her 2-month-old infant to the emergency department because of lethargy, failure to thrive, and a fever of 39.2°C (102.6°F). Physical examination reveals increased head circumference and prominent hepatosplenomegaly. Screening laboratory tests reveal a profound anemia and leukopenia. Despite fluid resuscitation and initiation of antibiotic therapy, the child dies. On autopsy, histologic analysis of the child’s bone marrow space reveals a marked infiltration of the medullary canal space by primary bony spongiose tissue. Which malfunctioning cells are the cause of this patient’s disease process?

一位母亲带着她的2个月大的婴儿到急诊科就诊，原因是嗜睡、发育不良和39.2℃(102.6℉)的发热。体检:头围增大，肝脾肿大明显。筛查性实验室检查显示严重贫血和白细胞减少。尽管给予了液体复苏和抗生素治疗，患儿仍死亡。在尸检中，对儿童骨髓腔的组织学分析显示，髓腔明显受到原发性骨海绵组织的浸润。哪些故障细胞是该患者疾病过程的原因?

(A) Hepatocytes 肝细胞

(B) Lymphoid progenitor cells 淋巴祖细胞

(C) Osteoblasts 成骨细胞

(D) Osteoclasts 破骨细胞

(E) Reticulocytes 网织红细胞

答案解析：

该患儿最可能的诊断是石骨症。这种罕见的遗传性疾病发生于功能障碍的破骨细胞导致的骨吸收和重塑失败。当新的骨基质进入髓腔，取代造血组织时，骨骼变得弥漫性硬化和致密。患者出现髓外造血代偿，导致肝脾肿大。尽管密度增加了，但骨骼很脆弱，容易骨折。该病主要有两种类型，以其遗传方式为特征。常染色体隐性遗传型恶性程度更高，在子宫内或新生儿期常致死性。常染色体显性型通常为良性，可在x线检查中偶然发现。

正确答案：D