每日一题_2023.05.10

A 30-year-old man presents with a seven- month history of fatigue, weight loss, depression, and abdominal pain worsened by eat- ing. He recently experienced two episodes of kidney stones, which he has never had before, and reports decreased libido over the past couple years. He was adopted at an early age, has no children, and is unsure of his family history. What is the most likely mode of inheritance of this man’s condition?

一名30岁男性，有7个月的疲劳、体重减轻、抑郁和因进食而加重的腹痛病史。他最近经历了两次肾结石发作，这是他以前从未有过的，并报告说在过去几年里性欲下降。他很小的时候就被收养了，没有孩子，也不清楚自己的家族史。该男子这种情况最有可能的遗传方式是什么?

(A) Autosomal dominant常染色体显性

(B) Autosomal recessive常染色体隐性遗传

(C) Mitochondrial inheritance 线粒体遗传

(D) X-linked dominantx连锁显性

(E) X-linked recessivex连锁隐性遗传

答案解析：

多发性内分泌腺瘤病I型(MEN I型)是一种常染色体显性疾病，通常涉及甲状旁腺、垂体前叶和胰岛细胞(三个p)的肿瘤。患者主诉的疲劳、体重减轻、抑郁和肾结石与甲状旁腺肿瘤分泌的甲状旁腺激素(PTH)增加导致的高钙血症有关。MEN I型也可累及垂体前叶，在此例中表现为催乳素瘤，导致性欲下降和不育。MENⅰ型的胰腺肿瘤包括胰岛素瘤、VIPomas和佐林格-埃利森综合征(如该患者所示)，该患者的胃泌素分泌增加，可能表现为多发性消化性溃疡，产生腹痛，进食后腹痛加重。

正确答案：A