A Case of Shwachman-Diamond Syndrome Presenting With Diabetes From Early Infancy
- Tomohiro Kamoda, MD1,
- Takashi Saito, MD1,
- Hideyo Kinugasa, MD1,
- Nobuaki Iwasaki, MD1,
- Ryo Sumazaki, MD1,
- Youko Mouri, MD2,
- Isho Izumi, MD2,
- Takeki Hirano, MD2 and
- Akira Matsui, MD1
- 1Department of Pediatrics, University of Tsukuba, Ibaraki, Japan
- 2Department of Pediatrics, Ibaraki Children’s Hospital, Ibaraki, Japan
- Address correspondence and reprint requests to Tomohiro Kamoda, MD, Department of Pediatrics, University of Tsukuba, 1-1-1 Tennoudai, Tsukuba 305-8575, Ibaraki, Japan. E-mail: tkamoda{at}md.tsukuba.ac.jp
Shwachman-Diamond syndrome (SDS; OMIM 260400) is a rare autosomal recessive disorder characterized by pancreatic insufficiency, bone marrow failure, skeletal dysplasia, and short stature (1). Diabetes is a rare complication of SDS, and only a few SDS patients have been reported to develop diabetes (2–6). We report the first case of SDS with diabetes in which mutations of the SBDS gene have been identified.
RESEARCH DESIGN AND METHODS
A 15-month-old Japanese girl was born uneventfully to a healthy mother after 36 weeks gestation. Pregnancy was complicated by intrauterine growth retardation. Her parents are nonconsanguineous. There was no family history of inherited disorders. The birth weight was 1,530 g (−2.4 SD) and length was 41.0 cm (−2.5 SD). After birth, she developed respiratory distress syndrome and pulmonary hemorrhage. Neutropenia was noted from the neonatal period, and a bone marrow examination revealed a maturation arrest of myelopoiesis. After 3 weeks of age, she developed postprandial hyperglycemia with >200 mg/dl in blood glucose. The treatment with insulin was not begun because of normal insulin response in the oral glucose tolerance test performed at the age of 3 months. At 5 months of age, her weight was 2,950 g (−5.2 SD) and length was 51.0 cm (−4.1 SD). At 15 …
