Carneiro I Marques, Rodrigues A, Pinho L, de Jesus Nunes-Santos C, de Barros Dorna M, Moschione Castro A P B, Pastorino A C
Department of Pediatrics Hospital Santa Maria (CHULN), Lisbon Academic Medical Centre, Av. Professor Egas Moniz, 1649-035, Lisbon, Portugal.
Department of Pediatrics, Hospital Dr. Nélio Mendonça, Madeira, Portugal.
Allergol Immunopathol (Madr). 2019 Nov-Dec;47(6):598-603. doi: 10.1016/j.aller.2019.04.010. Epub 2019 Aug 30.
Chediak-Higashi syndrome (CHS) is a rare and potentially fatal autosomal recessive disease characterized by frequent bacterial infections, bleeding tendency, oculocutaneous albinism, photosensitivity and progressive neurologic dysfunction. Owing to the rarity of this condition, the objective of this study was to describe patients with CHS.
Retrospective evaluation of patients followed in a paediatric tertiary centre of Allergy and Immunology of São Paulo, Brazil, between 1986 and 2018 with a confirmed diagnosis of CHS. Data were obtained from medical records. Demographic aspects, family history, clinical findings, laboratory data, diagnosis, treatment and outcome were described.
A total of 14 patients (five male) were included. Clinical manifestations were first recognized at a median age of two months (at birth-20 months). Median age at diagnosis was 1.7 years (0-5 years). All patients had recurrent infections. Albinism was present in 13 patients and silvery or light hair was present in 14. Seven patients developed hemophagocytic lymphohistiocytosis (HLH); the median age at the diagnosis of HLH was 5.7 years (2.6-6.7 years) and the median interval between the diagnosis of CHS and HLH was 3.3 years (0-5 years). Four of the most recently diagnosed patients underwent bone marrow transplantation (BMT). Nine patients are deceased, and one was lost to follow-up. The median age of death was 6.7 years (3.8-22 years). Five patients died of HLH, one of lymphoma, and three of infection. All the patients who had HLH before the year of 2000 died of HLH. The two most recently diagnosed patients with HLH were able to cure the HLH, although they died of other causes. Four patients are alive, three of them after successful BMT.
Thirty years of follow up showed an improvement in the prognosis in patients with CHS. The better understanding of the underlying biological mechanisms of HLH allowed the standardization of management protocols, resulting in survival improvement. BMT is the only treatment that can change CHS prognosis, which emphasizes the need for early identification of the disease.
切东二氏综合征（CHS）是一种罕见的、具有潜在致命性的常染色体隐性疾病，其特征为频繁的细菌感染、出血倾向、眼皮肤白化病、光敏性和进行性神经功能障碍。由于该病罕见，本研究的目的是描述CHS患者。
对1986年至2018年在巴西圣保罗一家儿科三级过敏与免疫中心接受随访且确诊为CHS的患者进行回顾性评估。数据来自病历记录。描述了人口统计学特征、家族史、临床表现、实验室数据、诊断、治疗及转归情况。
共纳入14例患者（5例男性）。临床表现首次被发现的中位年龄为2个月（出生至20个月）。诊断时的中位年龄为1.7岁（0至5岁）。所有患者均有反复感染。13例患者有白化病，14例有银色或浅色头发。7例患者发生噬血细胞性淋巴组织细胞增生症（HLH）；HLH诊断时的中位年龄为5.7岁（2.6至6.7岁），CHS诊断与HLH诊断之间的中位间隔为3.3年（0至5年）。最近诊断的4例患者接受了骨髓移植（BMT）。9例患者死亡，1例失访。死亡的中位年龄为6.7岁（3.8至22岁）。5例患者死于HLH，1例死于淋巴瘤，3例死于感染。2000年前发生HLH的所有患者均死于HLH。最近诊断的2例HLH患者虽死于其他原因，但HLH得以治愈。4例患者存活，其中3例在成功接受BMT后存活。
30年的随访显示CHS患者的预后有所改善。对HLH潜在生物学机制的更好理解使管理方案得以标准化，从而改善了生存率。BMT是唯一能改变CHS预后的治疗方法，这凸显了早期识别该疾病的必要性。
