Mack D R, Forstner G G, Wilschanski M, Freedman M H, Durie P R
Department of Pediatrics, Hospital for Sick Children, Toronto, Canada.
Gastroenterology. 1996 Dec;111(6):1593-602. doi: 10.1016/s0016-5085(96)70022-7.
BACKGROUND & AIMS: Shwachman syndrome is an inherited condition with multisystemic abnormalities, including exocrine pancreatic dysfunction. The aim of this study was to evaluate the occurrence and progression of features in a large cohort of patients.
Clinical records of 25 patients with Shwachman syndrome were reviewed.
Mean birth weight (2.92 +/- 0.51 kg) was at the 25th percentile. However, by 6 months of age, mean heights and weights were less than the 5th percentile. After 6 months of age, growth velocity was normal. Severe fat maldigestion due to pancreatic insufficiency was present in early life (fecal fat, 26% +/- 17% of fat intake; age, < 2 years). Serial assessment of exocrine pancreatic function showed persistent deficits of enzyme secretion, but 45% of patients showed moderate age-related improvements leading to pancreatic sufficiency. Neutropenia was the most common hematologic abnormality (88%), but leukopenia, thrombocytopenia, and anemia were also frequently encountered. Patients with hypoplasia of all three bone marrow cellular lines (n = 11) had the worst prognosis; 5 patients died, 2 of sepsis and 3 of acute myelogenous leukemia. Other findings included hepatomegaly and/or abnormal liver function test results and skeletal abnormalities.
A wide and varied spectrum of phenotypic abnormalities among patients with Shwachman syndrome is described. Pancreatic acinar dysfunction is an invariable abnormality. Patients with severe bone marrow involvement may have a guarded prognosis.
舒瓦茨曼综合征是一种具有多系统异常的遗传性疾病，包括外分泌胰腺功能障碍。本研究的目的是评估一大群患者中各种特征的发生情况及进展。
回顾了25例舒瓦茨曼综合征患者的临床记录。
平均出生体重（2.92±0.51千克）处于第25百分位。然而，到6个月大时，平均身高和体重低于第5百分位。6个月大后，生长速度正常。早年因胰腺功能不全存在严重脂肪消化不良（粪便脂肪，占脂肪摄入量的26%±17%；年龄，<2岁）。外分泌胰腺功能的系列评估显示酶分泌持续不足，但45%的患者显示出与年龄相关的中度改善，最终胰腺功能充足。中性粒细胞减少是最常见的血液学异常（88%），但白细胞减少、血小板减少和贫血也经常出现。所有三种骨髓细胞系发育不全的患者（n = 11）预后最差；5例死亡，2例死于败血症，3例死于急性髓细胞白血病。其他发现包括肝肿大和/或肝功能检查结果异常以及骨骼异常。
描述了舒瓦茨曼综合征患者广泛多样的表型异常。胰腺腺泡功能障碍是一种恒定的异常。严重骨髓受累的患者预后可能不佳。
