Liver pathology and gene analysis in children with Shwachman-Diamond syndrome / 临床儿科杂志
Journal of Clinical Pediatrics
;
(12): 540-542, 2017.
Artigo
em Chinês
| WPRIM
| ID: wpr-613667
ABSTRACT
Objective To analyze the gene abnormality and liver pathology in Shwachman-Diamond syndrome (SDS) in a child. Method The clinical data of one child with SDS were analyzed retrospectively. Result A male patient was 1 month old at onset with neutrophil decrease as the first manifestation, accompanied by anemia, elevated transaminase and repeated infection. Exocrine pancreatic dysfunction was atypical. Pathological examination of liver biopsy showed slight damage of liver cells under light microscope. The blood samples of child and parents were collected, and homozygous mutations of SBDS (NM_016038.2) Intron2 c.258+2T>C p.? were detected by two generation gene sequencing. And these mutations were from both his parents. Conclusion Gene testing is helpful in diagnosing SDS and we suggest that liver biopsy should be performed if condition allows.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Idioma:
Chinês
Revista:
Journal of Clinical Pediatrics
Ano de publicação:
2017
Tipo de documento:
Artigo
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