Portal de Periódicos da CAPES

Shwachman-Diamond syndrome: Report from an international conference

2002; Elsevier BV; Volume: 141; Issue: 2 Linguagem: Inglês

10.1067/mpd.2002.125850

1097-6833

Robert Rothbaum, Jean Perrault, Adrianna Vlachos, Marco Cipolli, Blanche P. Alter, Susan Burroughs, Peter R. Durie, M. Tarek Elghetany, Richard J. Grand, Van S. Hubbard, Johanna M. Rommens, Thomas M. Rossi,

Neutrophil, Myeloperoxidase and Oxidative Mechanisms

This report was first conceived during the International Shwachman-Diamond syndrome (SDS) Family Conferences, and further developed by Medical and Scientific participants attending the First International Scientific meeting on SDS. Through a combination of literature review and consultations with specialists with clinical expertise in the management of patients with SDS, we sought to answer several questions regarding SDS. This report is directed to physicians and health care workers interacting with affected individuals and their families. Each is faced with the challenging task of establishing the diagnosis, promoting adequate follow-up, and preventing complications. Shwachman-Diamond syndromeThe Journal of PediatricsVol. 141Issue 2PreviewSee related articles, p 259 and p 266. Full-Text PDF Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndromeThe Journal of PediatricsVol. 141Issue 2PreviewObjective: To evaluate the role of serum enzymes for defining the pancreatic phenotype in Shwachman-Diamond syndrome (SDS), an inherited multisystem condition. Study design: Serum pancreatic trypsinogen and isoamylase were measured in 164 patients known or presumed to have SDS. The diagnosis was confirmed in 90 patients. Among 74 unconfirmed cases, 35 ("probable SDS") had hematologic dysfunction but lacked documented pancreatic dysfunction, whereas 39 patients ("improbable SDS") lacked both documented pancreatic and hematologic dysfunction. Full-Text PDF