A Case of Shwachman-Diamond Syndrome Confirmed with Genetic Analysis in a Korean Child.
10.3346/jkms.2008.23.1.142
- Author:
Jeong Hee LEE
1
;
Sun Hwan BAE
;
Jeong Jin YU
;
Ran LEE
;
Yeo Min YUN
;
Eun Young SONG
Author Information
1. Department of Pediatrics, Konkuk University School of Medicine, Seoul, Korea. baedori@hanafos.com
- Publication Type:Case Report
- Keywords:
Shwachman-Diamond Syndrome;
Mutation;
Korea
- MeSH:
Child, Preschool;
Dental Caries/*genetics;
Dysostoses/*genetics;
Exocrine Pancreatic Insufficiency/*genetics;
Female;
Humans;
*Mutation;
Neutropenia/*genetics;
Pedigree;
Syndrome
- From:Journal of Korean Medical Science
2008;23(1):142-145
- CountryRepublic of Korea
- Language:English
-
Abstract:
Shwachman-Diamond syndrome (SDS) is an autosomal recessive genetic disorder, consisting of exocrine pancreatic insufficiency, chronic neutropenia, neutrophil chemotaxis defects, metaphyseal dysostosis, short stature, dental caries, and multiple organ involvements. Although SDS is the second most common hereditary abnormality of exocrine pancreas following cystic fibrosis in the Western countries, it has rarely been reported in Asia. We diagnosed a case of SDS in a 42-month-old girl, and genetic analysis including the relatives of the patient confirmed the diagnosis for the first time in Korea. She had short stature, steatorrhea, dental caries, and recurrent prulent otitis media and pneumonias. Laboratory studies revealed cyclic neutropenia, and serum levels of trypsin, amylase, and lipase were decreased. Simple radiography revealed metaphyseal sclerotic changes at the distal femur. A CT scan demonstrated a fatty infiltration and atrophy of the pancreas. On direct sequencing analysis of Shwachman-Bodian-Diamond Syndrome gene exon 2 region, the patient was homozygous for the c.258+2T>C mutation and heterozygous for the c.183_184TA>CT mutation and c.201A>G single nucleotide polymorphism. Treatment with pancreatic enzyme replacement, multivitamin supplementation, and regular to high fat diet improved her weight gain and steatorrhea.
