Clinical features, diagnosis, and treatment of Chinese children with Shwachman-Diamond syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 505-511, 2020.
Artigo
em Chinês
| WPRIM
| ID: wpr-828714
ABSTRACT
In order to clearly define the features of Shwachman-Diamond syndrome (SDS) in Chinese children, this article analyzes and summarizes the epidemiology, clinical features, and key points in the diagnosis and treatment of SDS in Chinese children with review of the clinical data of 27 children with SDS from related articles published previously. A comparative analysis was made between the Chinese and international data related to childhood SDS. The results showed a male/female ratio of about 21 in the Chinese children with SDS, with an age of onset of <1 month to 5 years (median 1 month) and an age of 3 months to 12 years (median 12 months) at the time of confirmed diagnosis. Reductions in peripheral blood cells due to myelopoiesis inhibition were observed in all 27 children with SDS, among whom 93% had neutropenia. Chronic diarrhea (85%), liver damage (78%), and short stature (83%) were the three main clinical features of SDS. Supplementation of pancreatin and component blood transfusion may temporarily alleviate the disease, while allogeneic hematopoietic stem cell transplantation is still an effective radical treatment. The comparative analysis of the Chinese and oversea data showed that compared with those in the European and American countries, the children with SDS in China had significantly higher incidence rates of chronic diarrhea, reductions in peripheral blood cells (three lineages), and liver damage, and there were also differences in the type of mutant genes.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Insuficiência Pancreática Exócrina
/
China
/
Resultado do Tratamento
/
Síndrome de Shwachman-Diamond
/
Neutropenia
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2020
Tipo de documento:
Artigo
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