Serum pancreatic enzymes define the pancreatic phenotype in patients with Shwachman-Diamond syndrome
| Autor: | Johanna M. Rommens, Jodi Morrison, Wan F. Ip, Mary Corey, Annie Dupuis, Lynda Ellis, Satti Beharry, Michael Stormon, Peter R. Durie |
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| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Pancreatic disease Adolescent Trypsinogen Child Welfare Neutropenia chemistry.chemical_compound Internal medicine Blood plasma medicine Humans Abnormalities Multiple Isoamylase Child Pancreas Retrospective Studies Chromosome Aberrations Shwachman–Diamond syndrome Leukopenia Clinical Laboratory Techniques business.industry Infant Welfare Infant Syndrome medicine.disease Hematologic Diseases Phenotype Endocrinology chemistry Child Preschool Pediatrics Perinatology and Child Health Exocrine Pancreatic Insufficiency Female medicine.symptom business Intracranial Hemorrhages Biomarkers Chromosomes Human Pair 7 |
| Zdroj: | The Journal of Pediatrics. 141:259-265 |
| ISSN: | 0022-3476 |
| DOI: | 10.1067/mpd.2002.125849 |
| Popis: | To evaluate the role of serum enzymes for defining the pancreatic phenotype in Shwachman-Diamond syndrome (SDS), an inherited multisystem condition.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. Classification and regression tree (CART) analysis was performed in 90 patients with SDS and 134 control patients to establish a rule for defining the pancreatic phenotype of SDS; the rule was then applied to the patients with unconfirmed diagnosis.In the control patients, serum trypsinogen showed little variation with age, whereas serum isoamylase values rose from birth on, attaining adult values by 3 years. For patients with SDS, serum trypsinogen values were low in young patients and tended to increase with age, whereas serum isoamylase values remained low at all ages. The CART rule combined results from both enzymes and classified the pancreatic phenotype in all but one SDS patient, who was3 years of age. Excluding patients3 years of age, CART identified the pancreatic phenotype in 82% and 7% of the "probable SDS" and "improbable SDS" cases, respectively.Serum pancreatic enzymes are useful for determining the pancreatic phenotype and confirming the diagnosis of SDS. |
| Databáze: | OpenAIRE |
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