Department of Pediatrics, Xinhua Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Chin Med J (Engl). 2009 Aug 20;122(16):1877-83.
Hypogammaglobulinemia is common in infant humoral immunodeficiencies and has complicated causes and outcomes. We aimed to determine the clinical manifestations, immunological changes and outcomes of Shanghai infants with hypogammaglobulinemia.
Patients under 2 years old, having one or more warning signs of primary immunodeficiency disorders, serum immunoglobulin levels below the lower limit of reference range per age, and with normal numbers for lymphocyte subsets, were analyzed and followed up for 2 to 3 years.
A total of 91 children (male-to-female ratio: 2.25: 1) participated in the study. Initial clinical presentation was recurrent upper respiratory tract infection (46%), invasive infection (3%), atopic disease (32%). IgA reduction (77%) was prevalent; 34% patients had more than one isotype reduced. During follow-up, 51 of 62 patients (82.25%) had immunoglobulins normalized at the age between 12 - 48 months; these were diagnosed as transient hypogammaglobulinemia of infancy (THI). Long-term follow-up may reveal a diagnosis for the remaining 11 infants with persistent lower immunoglobulin levels, who did not have antibody titers measured. Earlier onset was correlated with higher rates of normalization. More patients were diagnosed with isolated hypogammaglobulinemia in 2006 compared with the previous 4 years (2002 - 2005).
The awareness of immunodeficiency among pediatricians has been greatly improved. Recurrent otitis media was not a major infection in our patients. THI is a relatively common condition associated with infant hypogammaglobulinemia. In the absence of specific antibody titers, the diagnosis of THI can be confirmed retrospectively with Ig levels normalized in follow-up visits. Therefore, long-term follow-up and frequent re-evaluation of these patients are necessary to distinguish them from true primary immunodeficiency.
低丙种球蛋白血症在婴儿体液免疫缺陷中很常见，其病因和结局复杂。本研究旨在明确上海地区低丙种球蛋白血症婴儿的临床表现、免疫变化和结局。
纳入年龄<2 岁，具有一个或多个原发性免疫缺陷病的警示征象，血清免疫球蛋白水平低于各年龄相应参考范围下限，且淋巴细胞亚群计数正常的患儿，对其进行分析并随访 2~3 年。
共 91 例患儿（男∶女为 2.25∶1）纳入研究。初始临床表现为反复上呼吸道感染（46%）、侵袭性感染（3%）、特应性疾病（32%）。IgA 降低（77%）最常见，34%的患儿有 1 种以上免疫球蛋白降低。随访中，62 例患儿中有 51 例（82.25%）于 12~48 月龄时免疫球蛋白恢复正常，诊断为婴儿暂时性低丙种球蛋白血症（THI）。长期随访发现其余 11 例患儿仍持续低免疫球蛋白水平，未测到抗体滴度。起病越早，Ig 恢复正常的比例越高。与前 4 年（2002-2005 年）相比，2006 年诊断为孤立性低丙种球蛋白血症的患儿更多。
儿科医生对免疫缺陷的认识明显提高。中耳炎在本研究患儿中并非主要感染。THI 是婴儿低丙种球蛋白血症的一种常见情况。在未测到特异性抗体滴度时，根据随访中 Ig 水平恢复正常，可回顾性诊断 THI。因此，对这些患儿需要进行长期随访和反复评估，以将其与真正的原发性免疫缺陷相鉴别。
