Clinical and pathological features and gene mutation analysis in 12 Chinese patients with glycogen storage disease type Ⅸ

Abstract

Abstract: Objective To analyze the clinical, pathological features and gene mutations of glycogen storage disease type Ⅸ (GSD Ⅸ) for improving clinical understanding of the disease. Methods Data of 12 pediatric patients who had been genetically diagnosed of GSD Ⅸ and hospitalized in our hospital from October 2015 to October 2017 were analyzed retrospectively. Results According to gene mutations, 12 patients were divided into 3 types, including 10 boys diagnosed of GSD Ⅸa, 1 girl diagnosed of GSD Ⅸb and 1 girl diagnosed of GSD Ⅸc. The median onset age was 2.1 years old. All patients had elevated transaminase levels and hepatomegaly (100%, 12/12). Most patients had different degrees of hypoglycemia (83.3%, 10/12) and growth retardation (58.3%, 7/12). Some patients were with positive urine ketone bodies (50%, 6/12), hypertriglyceridemia (25%, 3/12) and hyperlactacidemia (33.3%, 4/12). All patients were with mild inflammation (G1-2) histologically, among which 8 (66.7%) were in S1-2, 3 (25%) were in S2-3, and 1 (8.3%) was in S4. All cases (12/12) were positive stained with periodic acid Schiff reaction. There were 13 phosphorylase kinase (PHK) gene mutations detected in the 12 patients, including 11 missense mutation, 1 deletion mutation and 1 shear mutation. Five novel mutations were identified, including 3 in PHKA2 (p.F1199fs, p.Q347X and p.s250L), 1 in PHKB (c.1776+1G>T) and 1 in PHKG2 (p.R309W). Raw cornstarch therapy could alleviate the symptoms in most of these patients. Conclusion GSD Ⅸ should be considered in pediatric patients with hepatomegaly and elevated transaminase levels. The accurate diagnosis and classification of GSD Ⅸ depend on genetic test. Intervention should be performed as early as possible to improve the prognosis

Key words: Glycogen storage disease type Ⅸ, Phosphorylase kinase, Pathology, Gene mutations

WANG Pu, DONG Yi, XU Zhi-qiang, CHEN Da-wei, WANG Fu-chuan, GAN Yu, WANG Li-min, YAN Jian-guo, CAO Li-li, LI Ai-qin, ZHU Shi-shu,ZHANG Min. Clinical and pathological features and gene mutation analysis in 12 Chinese patients with glycogen storage disease type Ⅸ[J]. Chinese Hepatolgy, 2018, 23(9): 764-768.

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