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Rossi A, Simeoli C, Pivonello R, Salerno M, Rosano C, Brunetti B, Strisciuglio P, Colao A, Parenti G, Melis D, Derks TGJ. Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care. Rev Endocr Metab Disord 2024; 25:707-725. [PMID: 38556561 PMCID: PMC11294274 DOI: 10.1007/s11154-024-09880-2] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [MESH Headings] [Grants] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Accepted: 03/23/2024] [Indexed: 04/02/2024]
Abstract
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.
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Affiliation(s)
- Alessandro Rossi
- Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
- Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy.
| | - Chiara Simeoli
- Dipartmento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia ed Andrologia, University of Naples "Federico II", Naples, Italy
| | - Rosario Pivonello
- Dipartmento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia ed Andrologia, University of Naples "Federico II", Naples, Italy
| | - Mariacarolina Salerno
- Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy
| | - Carmen Rosano
- Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy
| | - Barbara Brunetti
- Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Section of Pediatrics, University of Salerno, Baronissi, Italy
| | - Pietro Strisciuglio
- Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy
| | - Annamaria Colao
- Dipartmento di Medicina Clinica e Chirurgia, Sezione di Endocrinologia, Diabetologia ed Andrologia, University of Naples "Federico II", Naples, Italy
| | - Giancarlo Parenti
- Department of Translational Medicine, Section of Pediatrics, University of Naples "Federico II", Naples, Italy
- Telethon Institute of Genetics and Medicine, Pozzuoli, Italy
| | - Daniela Melis
- Department of Medicine, Surgery and Dentistry "Scuola Medica Salernitana", Section of Pediatrics, University of Salerno, Baronissi, Italy
| | - Terry G J Derks
- Section of Metabolic Diseases, Beatrix Children's Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands
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Wang J, Zhao Y, Chang P, Liu B, Yao R. Double filtration plasmapheresis for pregnancy with hyperlipidemia in glycogen storage disease type Ia: A case report. World J Clin Cases 2022; 10:10273-10278. [PMID: 36246825 PMCID: PMC9561557 DOI: 10.12998/wjcc.v10.i28.10273] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.3] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Received: 05/13/2022] [Revised: 07/04/2022] [Accepted: 08/23/2022] [Indexed: 02/05/2023] Open
Abstract
BACKGROUND Glycogen storage disease type Ia (GSDIa) is an autosomal recessive inborn error of carbohydrate metabolism that is caused by deficiency of the enzyme glucose-6-phosphatase (G6Pase), leading to disturbed glycogenolysis and gluconeogenesis. Patients with GSDIa show severe fasting hypoglycemia, hyperlipidemia, hyperlactacidemia, and hyperuricemia, which are associated with fatal outcomes in pregnant women and fetuses.
CASE SUMMARY Herein, we report the case of a 24-year-old female who on her first visit to the hospital, presented with pregnancy combined with extremely high hyperlipidemia and hyperlactic acidosis with anemia, and frequent hypoglycemia occurred during the treatment. Genetic tests revealed a mutation in the G6Pase gene (G6PC) at 17q21, the patient was finally diagnosed with glycogen storage disease type Ia for the first time after 22 years of inaccurate treatment. She has been treated with a continuous double filtration plasmapheresis (DFPP) strategy to remove blood lipids, and a cornstarch diet therapy. The patient did not develop pancreatitis during the course of the disease and a healthy baby girl weighing 3 kg was delivered.
CONCLUSION Patients with GSDIa may be misdiagnosed as epilepsy. DFPP can be used to control hyperlipidemia in GSDIa patients during pregnancy.
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Affiliation(s)
- Jie Wang
- Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
| | - Yi Zhao
- Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
| | - Pan Chang
- Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
| | - Bin Liu
- Department of Anesthesiology, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
| | - Rong Yao
- Department of Emergency, West China Hospital of Sichuan University, Chengdu 610041, Sichuan Province, China
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Labrune P, Trioche P, Duvaltier I, Chevalier P, Odièvre M. Hepatocellular adenomas in glycogen storage disease type I and III: a series of 43 patients and review of the literature. J Pediatr Gastroenterol Nutr 1997; 24:276-9. [PMID: 9138172 DOI: 10.1097/00005176-199703000-00008] [Citation(s) in RCA: 180] [Impact Index Per Article: 6.4] [Reference Citation Analysis] [Abstract] [MESH Headings] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/04/2023]
Abstract
BACKGROUND Hepatocellular adenomas may develop in patients with glycogen storage disease types I and III, and the malignant degeneration of adenomas in hepatocellular carcinoma has been reported in ten cases. The aim of this work was to study the characteristics of hepatic adenomas in a large series of 43 patients with glycogen storage disease types I and III and to determine the optimal means of follow-up. METHODS The charts of 43 patients with glycogen storage disease type I and III were studied. In all these patients, abdominal ultrasonography and the determination of serum alpha-fetoprotein had been performed yearly and serum concentrations of several proteins were determined once. RESULTS 51.8% of patients with type I and 25% of patients with type III glycogen storage disease had hepatic adenomas at the time of the study. The male to female ratio was 2 to 1 in type I, and no female had adenomas in type III. No evidence of malignant transformation was observed during the follow-up period. Serum concentrations of several proteins were significantly higher in patients with hepatic adenomas than in patients without such lesions. CONCLUSIONS In patients with glycogen storage disease type I and III, the determination of alpha-fetoprotein serum concentration has to be combined with yearly hepatic ultrasound examinations. Other investigations such as CT scan should be considered when the size of any adenoma increases. The malignant transformation of hepatocellular adenoma into hepatocellular carcinoma remains a rare event.
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Affiliation(s)
- P Labrune
- Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France
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