Kor Deniz, Bulut Fatma Derya, Köşeci Burcu, Kara Esra, Burgaç Ezgi, Kaplan İrem, Tüzel Gündüz Nazmiye, Önenli Mungan Halise Neslihan
Department of Pediatric Metabolism and Nutrition, Çukurova University, Adana, Turkey.
Pediatric Metabolism Clinic, Adana City Hospital, Adana, Turkey.
Orphanet J Rare Dis. 2025 Aug 4;20(1):398. doi: 10.1186/s13023-025-03783-4.
Glycogen storage diseases (GSDs) with liver involvement are classified into subtypes-types 0, Ia, and Ib; III, IV, VI, IX, and XIa, XIb, and XIc, depending on the deficient enzyme. Hypoglycemia and hepatomegaly (except type 0) are hallmarks of the disease; however, muscular and renal tubular involvement, dyslipidemia, and osteopenia can occur. The present study was conducted to highlight the clinical differences and characteristics between types, complications, and long-term outcomes in patients with hepatic GSD.
The records of 132 patients with hepatic GSD, confirmed through genetic analysis, were retrospectively reviewed.
Of the 132 patients, 55.3% were male. The consanguinity rate was 75, and 53% of the patients had a family history. The age at diagnosis was 34.36 ± 35.1 months. The frequency distribution was as follows: GSD type III (42.4%), Ia (17.4%), IXa (9.1%), Ib (9.1%), IXc (7.6%), VI (6.8%), IXb (4.5%), IV (2.3%), and 0 (0.8%). The most common presenting symptoms were abdominal distention (40.9%), elevated liver transaminases (14.4%), hepatomegaly (13.6%), hypoglycemia (12.1%), family screening (12.1%), growth retardation (4%), and others (3.8%). Hepatomegaly was found in 84.9%, splenomegaly in 20.5%, short stature in 46.2%, underweight in 14.4%, and obesity in 13.5% of the patients. Non-hepatic malignancy was detected in three patients with GSD type III. The twin rate was 6.1%. The rate of short stature was 46.2% at the time of diagnosis, while it was 15.4% in patients who reached adulthood. The number of twin patients was higher than reported in the literature, and structural anomalies such as intestinal duplication cyst, renal artery stenosis, and pulmonary stenosis, which were not previously reported in association with GSD, along with non-hepatic malignancy, were notable findings in our study.
Liver glycogenosis can present distinct and similar clinical, laboratory, and radiological features, challenging differential diagnosis between types. Our study may guide diagnosing and monitoring common GSDs with hepatic involvement.
累及肝脏的糖原贮积病（GSDs）根据缺陷酶的不同分为0型、Ia型、Ib型、III型、IV型、VI型、IX型以及XIa型、XIb型和XIc型。低血糖和肝肿大（0型除外）是该病的特征；然而，也可能出现肌肉和肾小管受累、血脂异常和骨质减少。本研究旨在突出肝脏GSD患者各类型之间的临床差异和特征、并发症及长期预后。
回顾性分析132例经基因分析确诊的肝脏GSD患者的病历。
132例患者中，55.3%为男性。近亲结婚率为75，53%的患者有家族史。诊断时的年龄为34.36±35.1个月。各类型的频率分布如下：III型GSD（42.4%）、Ia型（17.4%）、IXa型（9.1%）、Ib型（9.1%）、IXc型（7.6%）、VI型（6.8%）、IXb型（4.5%）、IV型（2.3%）和0型（0.8%）。最常见的首发症状为腹胀（40.9%）、肝转氨酶升高（14.4%）、肝肿大（13.6%）、低血糖（12.1%）、家族筛查（12.1%）、生长发育迟缓（4%）及其他（3.8%）。84.9%的患者有肝肿大；20.5%有脾肿大；46.2%身材矮小；14.4%体重过轻；13.5%肥胖。在3例III型GSD患者中检测到非肝脏恶性肿瘤。双胞胎发生率为6.1%。诊断时身材矮小率为46.2%，成年患者中为15.4%。双胞胎患者数量高于文献报道，本研究中的显著发现包括之前未报道过的与GSD相关的结构异常，如肠重复囊肿、肾动脉狭窄和肺动脉狭窄，以及非肝脏恶性肿瘤。
肝糖原贮积病可呈现出不同但又相似的临床、实验室和影像学特征，给各类型之间的鉴别诊断带来挑战。我们的研究可能有助于指导对常见的累及肝脏的GSD进行诊断和监测。
