X连锁无丙种球蛋白血症合并支气管扩张伴感染一例报告

doi:10.16150/j.1671-2870.2025.02.016

摘要/Abstract

摘要：

X连锁无丙种球蛋白血症（X-linked agammaglobulinemia，XLA）是一种罕见病，患者表现为严重的低丙种球蛋白血症、抗体缺乏和反复感染。本文报道1例X连锁无丙种球蛋白血症合并支气管扩张伴感染的病例，患者为45岁男性，病程40余年，主要表现为反复发生肺炎、鼻窦炎、中耳炎等感染。本次患者因支气管扩张伴感染入院后，实验室检查示免疫球蛋白（immunoglobulin，Ig）M、IgA、IgG分别为0.24 g/L、0.90 g/L、4.33 g/L，水平明显降低，外周血CD19⁺B淋巴细胞计数0.1%。基因检测结果提示患者Bruton's酪氨酸激酶（Bruton's tyrosine kinase，Btk）基因存在c.1095C>A（p.Asn365Lys）突变。本病例提示，临床医师对于反复感染病史及影像提示支气管扩张的男性患者，应进一步了解家族史，完善体液免疫及细胞免疫检测，及时进行基因检测，有利于XLA的早诊断、早治疗。

关键词: X连锁无丙种球蛋白血症, 遗传病, 支气管扩张

Abstract:

X-linked agammaglobulinemia (XLA) is a rare disease characterized by severe hypogammaglobulinemia, antibody deficiency, and recurrent infections. This study reports a case of X-linked agammaglobulinemia combined with bronchiectasis and infection. The patient was a 45-year-old male with a disease course of more than 40 years, mainly presenting with recurrent infections such as pneumonia, sinusitis, and otitis media. After the patient was admitted due to bronchiectasis with infection this time, laboratory tests showed that the levels of IgM, IgA, and IgG were 0.24 g/L, 0.90 g/L, and 4.33 g/L, respectively, all significantly decreased, and the peripheral blood CD19⁺B lymphocyte count was 0.1%. Genetic testing results showed that the patient had a c.1095C>A (p.Asn365Lys) mutation in the Bruton's tyrosine kinase (Btk) gene. This case suggests that male patients with a history of recurrent infections and imaging evidence of bronchiectasis should further understand their family history, improve humoral and cellular immune testing, and perform genetic testing in a timely manner, which is beneficial for the early diagnosis and treatment of XLA.

Key words: X-linked agammaglobulinemia, Genetic diseases, Bbronchiectasis

中图分类号:

R593.31

林佳媛, 程齐俭, 陈聆. X连锁无丙种球蛋白血症合并支气管扩张伴感染一例报告[J]. 诊断学理论与实践, 2025, 24(02): 233-237.

LIN Jiayuan, CHENG Qijian, CHEN Ling. X-linked agammaglobulinemia with bronchiectasis and infection： a case report[J]. Journal of Diagnostics Concepts & Practice, 2025, 24(02): 233-237.

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病例(参考文献)	年龄 (岁)	发病年龄 (岁)	诊断年龄 (岁)	性别	其他临床表现	IgM (g/L)	IgA (g/L)	IgG (g/L)	CD19⁺B细胞 (%)	基因突变位点
1^[2]	13	6	10	男	败血症、丹毒、鼻窦炎	<0.01	<0.01	0.06	<0.1	c.1770delG
2^[2]	15	0.8	11	男	复发性中耳炎、乳突炎、败血症、脑膜炎	0.06	0.02	1.7	<0.1	c.1742delG
3^[3]	19	<4	4	男	反复细菌感染，新型冠状病毒肺炎	<0.05	<0.05	7.44	0	/
4^[4]	27 (死亡)	16	27	男	反复的窦肺感染、髋关节炎、皮肤脓肿、阑尾炎	0.23	0.16	2.48	0.1	/
5^[4]	25	5.3	8	男	反复的窦肺感染、败血症、皮肤脓肿	0.27	<0.06	1.17	1.1	c.1132T>C
6^[4]	23	1.2	3	男	反复的窦肺感染、败血症	0.27	<0.06	1.06	0.1	c.1567-2A>G
7^[4]	22	3	6	男	反复的窦肺感染、败血症，结肠炎	0.27	<0.06	1.46	0.3	/
8^[4]	15	3	5	男	反复的窦肺感染、败血症	<0.18	<0.23	<1.5	0.2	c.910T>G
9^[4]	19	2.1	8	男	反复的窦肺感染、败血症	0.19	<0.23	2.01	0.8	c.504 G>T
10^[4]	25	0.7	7	男	反复的窦肺感染、脓胸	<0.17	<0.24	<1.36	0	c.392-2A>G
11^[4]	8	1.2	4	男	反复的窦肺感染、败血症、骨髓炎、坏疽性脓疱	<0.27	<0.06	1.13	0.2	c.1751-1G>A Del
12^[4]	28	4	20	男	细菌性心包炎、化脓性髋关节炎、败血症	0.22	<0.23	3.46	0.5	c.776+2 T>c
13^[4]	3	0.5	1	男	反复的窦肺感染、败血症	0.14	<0.23	2.71	0	Del c.1957G
14^[4]	6	0.4	16	男	反复的窦肺感染、败血症、坏疽性脓疱、细菌性肠炎和蜂窝组织炎伴脓肿	0.05	<0.46	2.02	1	c.232 C>T
15^[4]	28	3.1	5	男	反复的窦肺感染、败血症、脓胸	0.17	<0.06	0.22	0	c.1385 G>A
16(本例)	45	2	45	男	反复的窦肺感染、中耳炎、脑炎、肺脓肿	0.24	0.9	4.33	0.1	c.1095C>A