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Chediak–Higashi syndrome: Lessons from a single-centre case series

2019Journal article Open access
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dc.contributor.authorCarneiro, I. Marques
dc.contributor.authorRodrigues, A.
dc.contributor.authorPinho, L.
dc.contributor.authorde Jesus Nunes-Santos, C.
dc.contributor.authorde Barros Dorna, M.
dc.contributor.authorMoschione Castro, A.P.B.
dc.contributor.authorPastorino, A.C.
dc.date.accessioned2020-10-01T17:24:05Z
dc.date.available2020-10-01T17:24:05Z
dc.date.issued2019
dc.description.abstractChediak–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. Methods 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. Results 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. Conclusion 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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationAllergologia et Immunopathologia.Volume 47, Issue 6, November–December 2019, Pages 598-603pt_PT
dc.identifier.doi10.1016/j.aller.2019.04.010pt_PT
dc.identifier.isbnPrint 0301-0546
dc.identifier.issnEletronic 1578-1267
dc.identifier.urihttp://hdl.handle.net/10400.26/33474
dc.language.isoengpt_PT
dc.publisherElsevier Españapt_PT
dc.relation.publisherversionhttps://www.sciencedirect.com/science/article/abs/pii/S0301054619300989?via%3Dihubpt_PT
dc.subjectAlbinismpt_PT
dc.subjectChediak-Higashi Syndromept_PT
dc.subjectChildpt_PT
dc.subjectFemalept_PT
dc.subjectFollow-Up Studiespt_PT
dc.subjectInfant, Newbornpt_PT
dc.subjectInfectionspt_PT
dc.subjectLymphohistiocytosispt_PT
dc.subjectMalept_PT
dc.subjectPrognosispt_PT
dc.subjectRetrospective Studiespt_PT
dc.subjectSurvivalpt_PT
dc.subjectYoung Adultpt_PT
dc.subjectBone Marrow Transplantationpt_PT
dc.subjectMadeira Islandpt_PT
dc.subjectPortugalpt_PT
dc.titleChediak–Higashi syndrome: Lessons from a single-centre case seriespt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage603pt_PT
oaire.citation.issue6pt_PT
oaire.citation.startPage598pt_PT
oaire.citation.titleAllergologia et Immunopathologiapt_PT
oaire.citation.volume47pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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