目的:先天性糖基化障碍(CDG)是一类多器官受累的遗传代谢性疾病。在这里,我们旨在根据不同亚型CDG患者的诊断和随访经验,扩大CDG患者的临床特征.
方法:回顾性回顾了Ege大学儿童代谢和营养学系过去15年的临床和实验室检查结果。
结果:女性8例(57.2%),男性6例(42.8%)。患者的诊断为PMM2-CDG(n=4),PGM1-CDG(n=2),DPAGT1-CDG(n=2),SRD5A3-CDG(n=2),MPI-CDG(n=1),POMT2-CDG(n=1),B3GALNT2-CDG(n=1),DPM1-CDG(n=1)。患者的临床表现为畸形(85.7%),发育迟缓(85.7%),智力残疾(85.7%),眼部异常(64.2%),骨骼畸形(64.2%),未能茁壮成长(57.1%),小头畸形(57.1%),肝肿大(35.7%),听力损失(35.7%),缉获量(28.5%),胃肠道症状(21.4%),内分泌异常(21.4%),和心脏异常(7.1%)。实验室检查结果为TIEF异常(92.8%),肝酶异常(64.2%),蛋白C减少(64.2%),抗凝血酶III降低(64.2%),蛋白质S减少(42.8%),低球蛋白血症(35.7%),小脑发育不全(28.5%),CK高程(7.1%),和低血糖(7.1%)。
结论:这项研究通过分享我们的超罕见DPM1-CDG病例,文献中少于20例,并扩大了其他CDG患者的临床和分子特征,为文献做出了贡献。高胰岛素血症性低血糖,身材矮小,甲状腺功能减退,生长激素缺乏,低球蛋白血症,心包积液,升高的CK,先天性肌无力,肛门直肠畸形是观察到的独特发现。伴随多器官受累的小脑眼部发现是可能的CDG的重要线索。
OBJECTIVE: Congenital Glycosylation Disorders (CDG) are a large group of inherited metabolic diseases with multi-organ involvement. Herein, we aimed to expand the clinical characteristics of patients with CDG based on our experience with diagnoses and follow-up of CDG patients from different subtypes.
METHODS: The clinical and laboratory findings from the last 15 years were reviewed retrospectively in Ege University Child Metabolism and Nutrition Department.
RESULTS: There were 8 (57.2 %) females and 6 (42.8 %) males. Diagnoses of the patients were PMM2-CDG (n=4), PGM1-CDG (n=2), DPAGT1-CDG (n=2), SRD5A3-CDG (n=2), MPI-CDG (n=1),
POMT2-CDG (n=1), B3GALNT2-CDG (n=1), DPM1-CDG (n=1). The clinical findings of the patients were dysmorphia (85.7 %), developmental delay (85.7 %), intellectual disability (85.7 %), ocular abnormalities (64.2 %), skeletal malformations (64.2 %), failure to thrive (57.1 %), microcephaly (57.1 %), hepatomegaly (35.7 %), hearing loss (35.7 %), seizures (28.5 %), gastrointestinal symptoms (21.4 %), endocrine abnormalities (21.4 %), and cardiac abnormalities (7.1 %). Laboratory findings were abnormal TIEF (92.8 %), abnormal liver enzymes (64.2 %), decreased protein C (64.2 %), decreased antithrombin III (64.2 %), decreased protein S (42.8 %), hypogammaglobulinemia (35.7 %), cerebellar hypoplasia (28.5 %), CK elevation (7.1 %), and hypoglycemia (7.1 %).
CONCLUSIONS: This study contributes to the literature by sharing our ultra-rare DPM1-CDG case with less than 20 cases in the literature and expanding the clinical and molecular characteristics of other CDG patients. Hyperinsulinemic hypoglycemia, short stature, hypothyroidism, growth hormone deficiency, hypogammaglobulinemia, pericardial effusion, elevated CK, congenital myasthenia, and anorectal malformation were unique findings that were observed. Cerebello-ocular findings accompanying multi-organ involvement were an essential clue for a possible CDG.