Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review / 中华儿科杂志
Chinese Journal of Pediatrics
;
(12): 679-683, 2013.
Artigo
em Chinês
| WPRIM
| ID: wpr-275643
ABSTRACT
<p><b>OBJECTIVE</b>To study clinical features and gene mutations in Shwachman-Diamond syndrome (SDS), a rare autosomal recessive disease, in children.</p><p><b>METHOD</b>Clinical manifestations, laboratory examinations, image studies, and genetic testing of two cases with SDS were presented, analyzed, and discussed; 311 SDS cases from the related literature since 2004 were reviewed.</p><p><b>RESULT</b>(1) The two cases both presented with characteristic exocrine pancreatic insufficiency evidenced by abnormal pancreas on imaging and growth retardation, persistent or intermittent neutropenia (<1500×10(6)/L) and/or anemia, and skeletal abnormalities. Analysis of the SBDS gene revealed the same compound heterozygous genotype (c.183_184TA > CT, c.258+2T > C) for both subjects. This genotype is the result of the inheritance of abnormal alleles from both healthy parents. (2) Among 311 cases, 75 cases having complete clinical data were characterized by exocrine pancreatic dysfunction (61/75; 81.3%), hematologic abnormalities with single- or multi-lineage cytopenia (64/75; 85.3%), and bone abnormalities (47/75; 62.7%). c.183_184TA > CT, c.258+2T > C, and c. [ 183_184TA > CT; 258+2T > C] are the major types of SBDS gene mutation(85/138;61.6%).</p><p><b>CONCLUSION</b>SDS is characterized by exocrine pancreatic dysfunction with malabsorption, malnutrition, and growth failure; hematologic abnormalities with single- or multi-lineage cytopenia, and bone abnormalities. The diagnosis of SDS relies on a combination of clinical features and gene-based tests. The SDS patients need long term follow-up and management.</p>
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Insuficiência Pancreática Exócrina
/
Doenças da Medula Óssea
/
Análise Mutacional de DNA
/
Proteínas
/
Éxons
/
Diagnóstico
/
Genes Recessivos
/
Genética
/
Heterozigoto
/
Lipomatose
Tipo de estudo:
Estudo diagnóstico
Limite:
Criança
/
Humanos
/
Lactente
/
Masculino
Idioma:
Chinês
Revista:
Chinese Journal of Pediatrics
Ano de publicação:
2013
Tipo de documento:
Artigo
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