Chédiak-Higashi syndrome: presentation of seven cases
Autor(a) principal: | |
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Data de Publicação: | 1998 |
Outros Autores: | , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801998000600008 |
Resumo: | CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed. |
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Chédiak-Higashi syndrome: presentation of seven casesChédiak-HigashiPrimary immunodeficiencyPhagocyteChildCONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed.Associação Paulista de Medicina - APM1998-11-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801998000600008Sao Paulo Medical Journal v.116 n.6 1998reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31801998000600008info:eu-repo/semantics/openAccessCarnide,Eugénia Maria GriloJacob,Cristina Miuki AbePastorino,Antonio CarlosBellinati-Pires,RaquelCosta,Maria Beatriz GuimarãesGrumach,Anete Sevcioviceng1999-12-17T00:00:00Zoai:scielo:S1516-31801998000600008Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:1999-12-17T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Chédiak-Higashi syndrome: presentation of seven cases |
title |
Chédiak-Higashi syndrome: presentation of seven cases |
spellingShingle |
Chédiak-Higashi syndrome: presentation of seven cases Carnide,Eugénia Maria Grilo Chédiak-Higashi Primary immunodeficiency Phagocyte Child |
title_short |
Chédiak-Higashi syndrome: presentation of seven cases |
title_full |
Chédiak-Higashi syndrome: presentation of seven cases |
title_fullStr |
Chédiak-Higashi syndrome: presentation of seven cases |
title_full_unstemmed |
Chédiak-Higashi syndrome: presentation of seven cases |
title_sort |
Chédiak-Higashi syndrome: presentation of seven cases |
author |
Carnide,Eugénia Maria Grilo |
author_facet |
Carnide,Eugénia Maria Grilo Jacob,Cristina Miuki Abe Pastorino,Antonio Carlos Bellinati-Pires,Raquel Costa,Maria Beatriz Guimarães Grumach,Anete Sevciovic |
author_role |
author |
author2 |
Jacob,Cristina Miuki Abe Pastorino,Antonio Carlos Bellinati-Pires,Raquel Costa,Maria Beatriz Guimarães Grumach,Anete Sevciovic |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Carnide,Eugénia Maria Grilo Jacob,Cristina Miuki Abe Pastorino,Antonio Carlos Bellinati-Pires,Raquel Costa,Maria Beatriz Guimarães Grumach,Anete Sevciovic |
dc.subject.por.fl_str_mv |
Chédiak-Higashi Primary immunodeficiency Phagocyte Child |
topic |
Chédiak-Higashi Primary immunodeficiency Phagocyte Child |
description |
CONTEXT: Chédiak-Higashi Syndrome (CHS) is a rare autosomal recessive disease characterized by recurrent infections, giant cytoplasmic granules, and oculocutaneous albinism. OBJECTIVE: To describe clinical and laboratory findings from CHS patients. DESIGN: Case report. SETTING: The patients were admitted into the Allergy and Immunology Unit of the Instituto da Criança, a tertiary public care institution. CASES REPORT: Seven patients had oculocutaneous albinism, recurrent infections and giant cytoplasmic granules in the leukocytes. One patient had low IgG levels and three showed impaired bactericidal activity of neutrophils. Six patients died of infectious complications during the accelerated phase. Therapy included ascorbic acid and antibiotics. Chemotherapy was used for the accelerated phase in two patients. Bone marrow transplantation (BMT) was proposed for one patient. DISCUSSION: The authors emphasize the need for early diagnosis and therapy of CHS. BMT should be indicated before the accelerated phase of the disease has developed. |
publishDate |
1998 |
dc.date.none.fl_str_mv |
1998-11-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801998000600008 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31801998000600008 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1516-31801998000600008 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.116 n.6 1998 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209259952799744 |