X-linked Agammaglobulinemia - Report on a United States registry of 201 patients
X-linked Agammaglobulinemia - Report on a United States registry of 201 patients
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DOI：
10.1097/01.md.0000229482.27398.ad
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发表时间：
2006-07-01
期刊：
影响因子：
1.6
通讯作者：
Ochs, Hans D.
中科院分区：
文献类型：
--
作者：
Winkelstein, Jerry A.;Marino, Mary C.;Ochs, Hans D.
X 连锁无丙种球蛋白血症 (XLA) 是一种原发性免疫缺陷，由布鲁顿酪氨酸激酶 (BTK) 基因突变引起，导致 B 淋巴细胞发育缺陷和低丙种球蛋白血症。由于这种疾病并不常见，因此没有任何一个机构拥有足够数量的患者来全面了解这种疾病的临床情况。因此，1999 年建立了美国 XLA 居民国家登记处，以提供大量患者中该疾病的最新临床观点。 66 名医生总共登记了 201 名患者。 1988年至1997年这10年期间的估计出生率为1/379,000。感染是最常见的初始临床表现（85%），其次是阳性家族史（41%）和中性粒细胞减少症（11%）。尽管有阳性家族史的患者（平均 2.59 岁）的平均诊断年龄比有阴性家族史的患者（平均 5.37 岁）年轻（p < 0.001），但出生时有阳性家族史的患者中，只有 34.5% 在出现临床症状之前（即仅根据家族史）被诊断出来。 70% 的患者至少出现 1 次中耳炎，62% 至少出现 1 次肺炎，60% 至少出现 1 次鼻窦炎，23% 至少出现 1 次慢性/复发性腹泻，21% 至少出现 1 次结膜炎，18% 至少出现 1 次脓皮病和/或蜂窝织炎，11% 至少出现 1 次脑膜炎/脑炎，10%至少 1 集 败血症，8% 至少发作 1 次化脓性关节炎，6% 至少发作 1 次肝炎，3% 至少发作 1 次骨髓炎。 201 名患者中有 14 名 (6.9%) 在登记时已死亡。然而，在对活着的患者进行的为期 4 1/4 年的前瞻性随访中，只有 3/80 (3.75%) 的患者死亡。死亡原因包括播散性肠道病毒感染（n = 6）、肺功能不全（n = 5）、腺病毒感染（n = 1）、败血症（n = 1）、获得性免疫缺陷病综合征（艾滋病）（n = 1）、心肌炎（n = 1）、肝炎（n = 2）和干细胞移植（n = 1）。
X-linked agammaglobulinemia (XLA) is a primary immunodeficiency caused by mutations in the gene for Bruton tyrosine kinase (BTK) that result in the deficient development of B lymphocytes and hypogammaglobulinemia. Because the disorder is uncommon, no single institution has had sufficient numbers of patients to develop a comprehensive clinical picture of the disorder. Accordingly, a national registry of United States residents with XLA was established in 1999 to provide an updated clinical view of the disorder in a large cohort of patients. A total of 201 patients were registered by 66 physicians. The estimated birth rate for the 10-year period of 1988-1997 was 1/379,000. Infection was the most common initial clinical presentation (85%), followed by a positive family history (41%) and neutropenia (11%). Although the average age of diagnosis was younger in patients with a positive family history (mean, 2.59 yr) than in patients with a negative family history (mean, 5.37 yr) (p < 0.001), only 34.5% of patients with a positive family history at the time of their birth were diagnosed before clinical symptoms developed-that is, based on family history alone. Seventy percent of patients had at least 1 episode of otitis, 62% at least 1 episode of pneumonia, 60% at least 1 episode of sinusitis, 23% at least 1 episode of chronic/recurrent diarrhea, 21% at least 1 episode of conjunctivitis, 18% at least 1 episode of pyoderma and/or cellulitis, 11% at least 1 episode of meningitis/encephalitis, 10% at least 1 episode of sepsis, 8% at least 1 episode of septic arthritis, 6% at least 1 episode of hepatitis, and 3% at least 1 episode of ostcomyelitis. Fourteen of 201 (6.9%) patients were dead at the time they were entered in the Registry. However, in a prospective 4 1/4-year follow-up of living patients, only 3/80 (3.75%) patients died. Causes of death included disseminated enterovirus infection (n = 6), pulmonary insufficiency (n = 5), adenovirus infection (n = 1), sepsis (n = 1), acquired immunodeficiency disease syndrome (AIDS) (n = 1), myocarditis (n = 1), hepatitis (n = 2), and stem cell transplantation (n = 1).