Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care

被引:1
作者
Rossi, Alessandro [1 ,2 ]
Simeoli, Chiara [3 ]
Pivonello, Rosario [3 ]
Salerno, Mariacarolina [2 ]
Rosano, Carmen [2 ]
Brunetti, Barbara [4 ]
Strisciuglio, Pietro [2 ]
Colao, Annamaria [3 ]
Parenti, Giancarlo [2 ,5 ]
Melis, Daniela [4 ]
Derks, Terry G. J. [1 ]
机构
[1] Univ Groningen, Univ Med Ctr Groningen, Beatrix Childrens Hosp, Sect Metab Dis, Groningen, Netherlands
[2] Univ Naples Federico II, Dept Translat Med Sci, Sect Pediat, Naples, Italy
[3] Univ Naples Federico II, Dipartmento Med Clin & Chirurg, Sez Endocrinol Diabetol Androl, Naples, Italy
[4] Univ Salerno, Dept Med Surg & Dent, Sect Pediat, Scuola Med Salernitana, Baronissi, Italy
[5] Telethon Inst Genet & Med, Pozzuoli, Italy
关键词
Glycogen storage disease; Growth hormone; Thyroid; Bone mineral density; Cortisol; Gonads; BONE-MINERAL DENSITY; FANCONI-BICKEL-SYNDROME; NEONATAL DIABETES-MELLITUS; GROWTH-HORMONE; 11-BETA-HYDROXYSTEROID DEHYDROGENASE; LIVER-TRANSPLANTATION; SYNTHASE DEFICIENCY; CLINICAL PHENOTYPE; INSULIN-RESISTANCE; METABOLIC-CONTROL;
D O I
10.1007/s11154-024-09880-2
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Hepatic glycogen storage diseases constitute a group of disorders due to defects in the enzymes and transporters involved in glycogen breakdown and synthesis in the liver. Although hypoglycemia and hepatomegaly are the primary manifestations of (most of) hepatic GSDs, involvement of the endocrine system has been reported at multiple levels in individuals with hepatic GSDs. While some endocrine abnormalities (e.g., hypothalamic-pituitary axis dysfunction in GSD I) can be direct consequence of the genetic defect itself, others (e.g., osteopenia in GSD Ib, insulin-resistance in GSD I and GSD III) may be triggered by the (dietary/medical) treatment. Being aware of the endocrine abnormalities occurring in hepatic GSDs is essential (1) to provide optimized medical care to this group of individuals and (2) to drive research aiming at understanding the disease pathophysiology. In this review, a thorough description of the endocrine manifestations in individuals with hepatic GSDs is presented, including pathophysiological and clinical implications.
引用
收藏
页码:707 / 725
页数:19
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