Shwachman syndrome in a preterm newborn associated with transient diabetes mellitus

Journal of Pediatric Gastroenterology and Nutrition

Volumn 34, Issue 2, 2002, Pages 219-223

  Filippi, Luca ^a,c   Tronchin, Michele ^a   Pezzati, Marco ^a   Chiti, Gianna ^a   Dani, Carlo ^a   Vichi, Gian Franco ^b   Rubaltelli, Firmino F ^a  

^a CAREGGI UNIVERSITY HOSPITAL   (Italy)

^b UNIVERSITY OF FLORENCE   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOANTIBODY; C PEPTIDE; GLUCOSE; GLUTAMATE DECARBOXYLASE ANTIBODY; GROWTH HORMONE; IBUPROFEN; INSULIN; PHENOBARBITAL; RECOMBINANT ERYTHROPOIETIN; TRYPSINOGEN;

ABDOMINAL RADIOGRAPHY; APLASTIC ANEMIA; ARTICLE; BONE MALFORMATION; CASE REPORT; CHROMOSOME ANALYSIS; CLINICAL FEATURE; CYSTIC FIBROSIS; DIABETES MELLITUS; DISEASE ASSOCIATION; EARLY DIAGNOSIS; ECHOCARDIOGRAPHY; ERYTHROCYTE TRANSFUSION; FEMALE; GENE MUTATION; HUMAN; HYPERGLYCEMIA; INSULIN INFUSION; MACROGLOSSIA; MECONIUM ILEUS; NEUTROPENIA; NEWBORN; NEWBORN SCREENING; PATENT DUCTUS ARTERIOSUS; PHENOTYPE; PREMATURITY; PRIORITY JOURNAL; SHWACHMAN SYNDROME; SKELETON RADIOGRAPHY; THROMBOCYTOPENIA; TONIC CLONIC SEIZURE; VERY LOW BIRTH WEIGHT;

BONE AND BONES; DIABETES MELLITUS, TYPE 1; DIAGNOSIS, DIFFERENTIAL; EXOCRINE PANCREATIC INSUFFICIENCY; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; HYPERGLYCEMIA; HYPOGLYCEMIC AGENTS; INFANT, NEWBORN; INFANT, PREMATURE, DISEASES; INSULIN; NEUTROPENIA; OSTEOCHONDRODYSPLASIAS; SYNDROME;

EID: 0036204647     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/00005176-200202000-00022     Document Type: Article

References (24)

1. The syndrome of pancreatic insufficiency and bone marrow dysfunction
2. Shwachman syndrome: Exocrine pancreatic dysfunction and variable phenotypic expression
3. Shwachman's syndrome. A review of 21 cases
4. Metaphyseal chondrodysplasia, neutropenia, and pancreatic insufficiency presenting with respiratory distress in the neonatal period
5. Shwachman's syndrome with neonatal thoracic manifestations
6. Development of a screening system for cystic fibrosis: Meconium or blood spot trypsin assay or both?
7. Magnetic resonance imaging for diagnosis of Shwachman's syndrome
8. Shwachman syndrome: Phenotypic manifestations of sibling sets and isolated cases in a large patient cohort are similar
9. Effects of diabetic pregnancy on the fetus and newborn
10. Some clinical observations on the Shwachman syndrome (pancreatic insufficiency and bone marrow hypoplasia)
11. The syndrome of exocrine pancreatic insufficiency, neutropenia, metaphyseal dysostosis, and dwarfism
12. Long-term course of neonatal diabetes
13. Cellular and molecular roles of beta cell autoantigens, macrophages and T cells in the pathogenesis of autoimmune diabetes
14. Relation between cellular and humoral immunity to islet cell antigens in type I diabetes
15. Structural and functional considerations of GABA in islets of Langerhans. Beta-cells and nerves
16. Segregation analysis in Shwachman-Diamond syndrome: Evidence for recessive inheritance
17. Perinatal autoimmunity in offspring of diabetic parents. The German Multicenter BABY-DIAB study: Detection of humoral immune responses to islet antigens in early childhood
18. Shwachman syndrome associated with de novo reciprocal translocation t(6;12)(q16.2;q21.2)
19. Exclusion of linkage of Shwachman-Diamond syndrome to chromosome regions 6q and 12q implicated by a de novo translocation
20. Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a candidate gene
21. Refinement of the 6q chromosomal region implicated in transient neonatal diabetes
22. Transient but not permanent neonatal diabetes mellitus is associated with paternal uniparental isodisomy of chromosome 6
23. Significance of genetic testing for paternal uniparental disomy of chromosome 6 in neonatal diabetes mellitus
24. Transient and permanent neonatal diabetes