每日一题_2023.04.26

A 1-year-old girl presents to the pediatrician because of increasing neuromuscular irritability and tetany over the past few weeks. She has also had recurrent viral and fungal infection since birth, and was born full term. Results of physical examination are within normal limits. X-ray of the chest reveals the absence of a thymic shadow. Thorough laboratory testing reveals a T-lymphocyte deficiency. What other findings are most likely in this child?

一名1岁女童因近几周神经肌肉易激惹和手足搐搦就诊于儿科医师。她出生后也有反复的病毒和真菌感染，足月出生。体检结果均在正常范围内。胸部x线检查显示胸腺阴影消失。彻底的实验室检查显示t淋巴细胞缺乏。这名儿童最有可能的其他发现是什么?

(A) Elevated parathyroid hormone levels 甲状旁腺激素水平升高

(B) Enlarged thymus gland 胸腺增大

(C) Enlarged thyroid gland 甲状腺肿大

(D) Low serum calcium levels 低血清钙水平

(E) Low serum phosphorus levels 低血清磷水平

答案解析：

该患儿患有DiGeorge综合征，该综合征与第三和第四咽袋发育缺陷有关。这些结构通常产生胸腺和甲状旁腺。它们的缺失解释了这些患者典型的t淋巴细胞免疫缺陷和甲状旁腺功能低下，并被该病例的低钙血症所证实。大多数患者还表现为先天性心脏缺陷。

正确答案：D