A case of Shwachman-Diamond syndrome presenting with diabetes from early infancy

Diabetes Care

Volumn 28, Issue 6, 2005, Pages 1508-1509

  Kamoda, Tomohiro ^a   Saito, Takashi ^a   Kinugasa, Hideyo ^a   Iwasaki, Nobuaki ^a   Sumazaki, Ryo ^a   Mouri, Youko ^b   Izumi, Isho ^b   Hirano, Takeki ^b   Matsui, Akira ^a  

^a UNIVERSITY OF TSUKUBA   (Japan)

^b Ibaraki Children's Hospital   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

INSULIN; PANCREAS ENZYME;

ARTICLE; CASE REPORT; CHILD; CLINICAL FEATURE; DIABETES MELLITUS; FEMALE; GLUCOSE BLOOD LEVEL; GROWTH RETARDATION; HUMAN; INSULIN TREATMENT; ORAL GLUCOSE TOLERANCE TEST; SEPTIC SHOCK; SHWACHMAN SYNDROME;

ABNORMALITIES, MULTIPLE; ADULT; ANEMIA, APLASTIC; C-PEPTIDE; DIABETES COMPLICATIONS; DIABETES MELLITUS; EXOCRINE PANCREATIC INSUFFICIENCY; HUMANS; INFANT; NEUTROPENIA; SYNDROME;

EID: 19944390657     PISSN: 01495992     EISSN: None     Source Type: Journal    
DOI: 10.2337/diacare.28.6.1508     Document Type: Article

References (10)

1. Shwachman H, Diamond LK, Oski FA, Khaw K: The syndrome of pancreatic insufficiency and bone marrow dysfunction. J Pediatr 65:645-663, 1964
2. Shmerling DH, Prader A, Hitzig WH, Giedion A, Hadorn B, Kuhni M: The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis and dwarfism. Helv Paediatr Acta 24:547-575, 1969
3. Aggett PJ, Cavanagh NP, Matthew DJ, Pincott JR, Sutcliffe J, Harries JT: Shwachman's syndrome: a review of 21 cases. Arch Dis Child 55:331-347, 1980
4. Mack DR, Forstner GG, Wilschanski M, Freedman MH, Durie PR: Shwachman syndrome: exocrine pancreatic dysfunction and variable phenotypic expression. Gastroenterology 111:1593-1602, 1996
5. Ginzberg H, Shin J, Ellis L, Morrison J, Ip W, Dror Y, Freedman M, Heitlinger LA, Belt MA, Corey M, Rommens JM, Durie PR: Shwachman syndrome: phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar. J Pediatr 135:81-88, 1999
6. Filippi L, Tronchin M, Pezzati M, Chiti G, Dani C, Vichi GF, Rubaltelli FF: Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus. J Pediatr Gastroenterol Nutr 34:219-223, 2002
7. Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM: Mutations in SBDS are associated with Shwachman-Diamond syndrome. Nat Genet 33:97-101, 2003
8. Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S: Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome. Hum Genet 114:345-348, 2004
9. Mackie ADR, Thornton SJ, Edenborough FP: Cystic fibrosis-related diabetes. Diabet Med 20:425-436, 2003
10. Abdul-Karim FW, Dahms BB, Velasco ME, Rodman HM: Islets of Langerhans in adolescents and adults with cystic fibrosis: a quantitative study. Arch Pathol Lab Med 110:602-606, 1986