Clinical analysis of five cases of glycogen storage disease typeⅡin PICU
10.3760/cma.j.issn.1673-4912.2015.05.005
- VernacularTitle:PICU收治的糖原贮积病Ⅱ型五例临床分析
- Author:
Yuhang YANG
;
Liang PEI
;
Ni YANG
;
Guangfu WEN
;
Wei XU
;
Chunfeng LIU
- Publication Type:Journal Article
- Keywords:
Glycogen storage disease typeⅡ;
Infantile;
Late-onset;
Enzyme replacement therapy
- From:
Chinese Pediatric Emergency Medicine
2015;22(5):304-308
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical manifestations ofi nfantile and late-onset glycogen sot rage diseaes type Ⅱ.Mte hods We analyzed the cliin calm anifestations and prognosiso f infantile and late-onset glcy ogen storage disease type Ⅱ with a retrospective analysis of five cases admitted in PICU of Shengjing Hospital of China Medical University from 2013 to 2014.Resulst Firsts ymptoms of three infan-tile cases were dyspnea,cardiac hypertrophy,hepatomegaly,skeletal muscle weakness and low concentration of α-glucosidase A.Two cases completed gene detection.One case had frameshift mutation and missense mu-tation,and the other had two missense mutatoi n.Three infantile csa es all showed arrhythmia performance. Two cases died of fat l arrhythmia.One caes received ne zyme replacement therapy and survived.The main symptoms of two al te-onset cases who had not get gene detection were dyspnea,low muscle strength,muscle hypotonia and low concentration of ca idα-gluco sidase.One case receivedm echanicla ventilation,complicated with multiple infections,severe pneumonia andv entilator dependence,finally gave up the treatment.The other died of cardiac arrhythmia.Concluis on Infantile cases have the major symptoms of myocardial hypert o-phy,hepatomegaly,low muscular tension with rapid progression,high mortality and fatal arrhythmia.Late-on-set cases have the clinical features of respiratory failure,proximal limb muscle weakness and be susceptible to ventilator dependence and multiple infections.Enzyme replacement therapy can improve the clinical symp-toms of infantile cases.
