Liver pathology and gene analysis in children with Shwachman-Diamond syndrome / 临床儿科杂志

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.