Hershkovitz Eli, Forschner Itay, Mandel Hanna, Spiegel Ronen, Lerman-Sagie Tally, Anikster Yair, Zeharia A, Moses Shimon
Pediatr Endocrinol Rev. 2014 Mar;11(3):318-23.
Glycogen storage disease type III (GSD III) was found in the past with an unusual frequency among North African Jews in Israel. The aim of this study was to review the long-term clinical course of GSD III's patients in Israel. Relevant pediatric and adult clinical units of all Israeli hospitals were approached to report on their GSD III patients. 21 (14 M/7F) live patients were located. The average age of the patients was nearly twenty years. Eleven patients were older than 18 years of age. 76% of the patients were of Jewish North African origin, 14% of Jewish European origin, and 10% were Arab Muslims. The symptoms at presentation were fasting, hypoglycemia, hepatomegaly slight hypotonia in infancy and delayed growth. Although in most of the patients their signs and symptoms ameliorated after childhood, significant complications were observed in some 20% of the patients. Consequently, a life long follow up of GSD-III patients is required.
糖原贮积病III型（GSD III）过去在以色列的北非犹太人中发现的频率异常高。本研究的目的是回顾以色列GSD III患者的长期临床病程。研究人员联系了以色列所有医院的相关儿科和成人临床科室，要求他们报告各自的GSD III患者情况。共找到21名（14名男性/7名女性）存活患者。患者的平均年龄接近20岁。其中11名患者年龄超过18岁。76%的患者为北非犹太裔，14%为欧洲犹太裔，10%为阿拉伯穆斯林。患者就诊时的症状包括空腹低血糖、肝肿大、婴儿期轻度肌张力减退和生长发育迟缓。虽然大多数患者在童年后体征和症状有所改善，但约20%的患者出现了严重并发症。因此，需要对GSD-III患者进行终身随访。
