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Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring.
Genet Med 2019GM

Abstract

PURPOSE

In glycogen storage disease type III (GSD III), liver aminotransferases tend to normalize with age giving an impression that hepatic manifestations improve with age. However, despite dietary treatment, long-term liver complications emerge. We present a GSD III liver natural history study in children to better understand changes in hepatic parameters with age.

METHODS

We reviewed clinical, biochemical, histological, and radiological data in pediatric patients with GSD III, and performed a literature review of GSD III hepatic findings.

RESULTS

Twenty-six patients (median age 12.5 years, range 2-22) with GSD IIIa (n = 23) and IIIb (n = 3) were enrolled in the study. Six of seven pediatric patients showed severe fibrosis on liver biopsy (median [range] age: 1.25 [0.75-7] years). Markers of liver injury (aminotransferases), dysfunction (cholesterol, triglycerides), and glycogen storage (glucose tetrasaccharide, Glc4) were elevated at an early age, and decreased significantly thereafter (p < 0.001). Creatine phosphokinase was also elevated with no significant correlation with age (p = 0.4).

CONCLUSION

Liver fibrosis can occur at an early age, and may explain the decrease in aminotransferases and Glc4 with age. Our data outlines the need for systematic follow-up and specific biochemical and radiological tools to monitor the silent course of the liver disease process.

Authors+Show Affiliations

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Department of Pathology, Duke University Medical Center, Durham, NC, USA.Division of Neonatal-Perinatal Medicine, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Department of Radiology, Duke University Medical Center, Durham, NC, USA.Division of Gastroenterology, Hepatology and Nutrition, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA.Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA. priya.kishnani@duke.edu.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

31263214

Citation

Halaby, Carine A., et al. "Liver Fibrosis During Clinical Ascertainment of Glycogen Storage Disease Type III: a Need for Improved and Systematic Monitoring." Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019.
Halaby CA, Young SP, Austin S, et al. Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genet Med. 2019.
Halaby, C. A., Young, S. P., Austin, S., Stefanescu, E., Bali, D., Clinton, L. K., ... Kishnani, P. S. (2019). Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. Genetics in Medicine : Official Journal of the American College of Medical Genetics, doi:10.1038/s41436-019-0561-7.
Halaby CA, et al. Liver Fibrosis During Clinical Ascertainment of Glycogen Storage Disease Type III: a Need for Improved and Systematic Monitoring. Genet Med. 2019 Jul 2; PubMed PMID: 31263214.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Liver fibrosis during clinical ascertainment of glycogen storage disease type III: a need for improved and systematic monitoring. AU - Halaby,Carine A, AU - Young,Sarah P, AU - Austin,Stephanie, AU - Stefanescu,Ela, AU - Bali,Deeksha, AU - Clinton,Lani K, AU - Smith,Brian, AU - Pendyal,Surekha, AU - Upadia,Jariya, AU - Schooler,Gary R, AU - Mavis,Alisha M, AU - Kishnani,Priya S, Y1 - 2019/07/02/ PY - 2018/11/12/received PY - 2019/05/21/accepted PY - 2019/7/3/entrez KW - GSD III liver KW - cirrhosis KW - hepatocellular fibrosis KW - urinary glucose tetrasaccharide JF - Genetics in medicine : official journal of the American College of Medical Genetics JO - Genet. Med. N2 - PURPOSE: In glycogen storage disease type III (GSD III), liver aminotransferases tend to normalize with age giving an impression that hepatic manifestations improve with age. However, despite dietary treatment, long-term liver complications emerge. We present a GSD III liver natural history study in children to better understand changes in hepatic parameters with age. METHODS: We reviewed clinical, biochemical, histological, and radiological data in pediatric patients with GSD III, and performed a literature review of GSD III hepatic findings. RESULTS: Twenty-six patients (median age 12.5 years, range 2-22) with GSD IIIa (n = 23) and IIIb (n = 3) were enrolled in the study. Six of seven pediatric patients showed severe fibrosis on liver biopsy (median [range] age: 1.25 [0.75-7] years). Markers of liver injury (aminotransferases), dysfunction (cholesterol, triglycerides), and glycogen storage (glucose tetrasaccharide, Glc4) were elevated at an early age, and decreased significantly thereafter (p < 0.001). Creatine phosphokinase was also elevated with no significant correlation with age (p = 0.4). CONCLUSION: Liver fibrosis can occur at an early age, and may explain the decrease in aminotransferases and Glc4 with age. Our data outlines the need for systematic follow-up and specific biochemical and radiological tools to monitor the silent course of the liver disease process. SN - 1530-0366 UR - https://www.unboundmedicine.com/medline/citation/31263214/Liver_fibrosis_during_clinical_ascertainment_of_glycogen_storage_disease_type_III:_a_need_for_improved_and_systematic_monitoring L2 - http://dx.doi.org/10.1038/s41436-019-0561-7 DB - PRIME DP - Unbound Medicine ER -