在成年期诊断1b类型的糖原储存疾病:一个多个肝细胞腺瘤的病例
Yunus Emre Boru1, Kenan Moral2, Nergis Ekmen2
1Department of Internal Medicine, Gazi University School of Medicine Hospital, Ankara, Turkiye.
Hepatology forum
|April 21, 2025
概括
晚期诊断成年人中的糖原储存疾病类型1b (GSD类型1b) 存在肝脏方面的挑战. 这一案例突出了22岁的肝细胞腺瘤 (HCA) 管理,强调了对肝结节的持续监测.
科学领域:
- 肝病学 肝病学是一种肝病学.
- 内分泌学 在内分泌学.
- 遗传学 遗传学 是一个
背景情况:
- 糖原储存疾病类型1b (GSD类型1b) 通常在儿童时期出现.
- 成人发病的GSD类型1b病例很少见,并带来独特的临床挑战,特别是肝脏并发症.
- 肝细胞腺瘤 (HCAs) 是已知GSD型1患者的并发症,需要谨慎管理.
研究的目的:
- 报告一种罕见的成人发病型1b型GSD病例,具有显著的肝脏表现.
- 讨论这个患者群体中肝细胞腺瘤的诊断和管理复杂性.
- 探索潜在的治疗途径,以管理GSD类型1b的肝病变.
主要方法:
- 一个22岁的男性患有晚发型GSD型1b的病例报告.
- 诊断成像包括腹部MRI,以评估肝脏病变.
- 大型肝细胞腺瘤的手术干预 (细分切除术).
- 切除的HCA的组织病理学分析,包括遗传突变测试 (HNF-1alpha).
- 后续成像检查,以监测剩余的肝结节.
主要成果:
- 这名患者在22岁时被诊断出GSD类型1b,有肝壮病和肝结块.
- 一个大型HNF-1alpha突变阳性HCA被确定并通过手术切除.
- 手术后的MRI显示了持续的小肝结块,需要持续监测.
- 由于大小,多重性和恶性潜力,肝腺瘤存在管理挑战.
结论:
- 晚期诊断成年人GSD类型1b需要彻底评估肝脏并发症,如HCA.
- 在GSD类型1b中管理HCAs需要持续监测和考虑外科选择.
- 像SGLT-2抑制剂这样的新兴疗法可能为血糖控制提供未来的好处,并可能影响腺瘤的进展.
相关概念视频
01:20Inborn Errors of Metabolism
109
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
109
01:22Lysosomal Hydrolases
3.7K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.7K
01:15Diabetes: Symptoms, Diagnosis, and Complications
475
For most patients, experiencing several weeks of polyuria, polydipsia, fatigue, and significant weight loss may indicate the presence of diabetes. Furthermore, adults displaying the phenotypic appearance of type 2 diabetes (particularly those who are obese and not initially insulin-requiring), may have islet cell autoantibodies, suggesting autoimmune-mediated β cell destruction and a diagnosis of latent autoimmune diabetes of adults (LADA). The categorization of glucose homeostasis is...
475
01:22Diabetes Mellitus: Type 2 and Gestational
2.1K
Type 2 diabetes, characterized by insulin resistance, arises when the insulin receptors on cells lose responsiveness to insulin, diminishing the cell's capacity to take up glucose, resulting in elevated blood glucose levels. To receive a diagnosis of Type 2 diabetes, a series of blood glucose tests are necessary to assess whether the blood glucose falls within normal parameters. If the result is out of the normal range, a patient may be diagnosed as prediabetic or diabetic, depending on the...
2.1K
01:27Glucose Transporters
22.2K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
22.2K
01:15Hypoglycemia and Glucagon
138
Without prolonged fasting, healthy individuals maintain blood glucose levels above 3.5 mM due to a well-adapted neuroendocrine counterregulatory system that effectively prevents acute hypoglycemia, a potentially life-threatening condition. The primary clinical scenarios for hypoglycemia encompass diabetes treatment, inappropriate production of endogenous insulin or insulin-like substances by tumors, and the use of glucose-lowering agents in non-diabetic individuals. Notably, hypoglycemia in the...
138