| Background:GSDs are a group of inherited disorders characterized by enzyme defects that affect the glycogen synthesis and degradation cycle. The incidence of GSDs is approximately1case per20000live births in European, but that is unknown in our country.At present,GSDs are known to have13types.Among of them,the involvement of the liver is called hepatic GSDs (Ⅰ,Ⅲ, Ⅳ, Ⅵ, Ⅸ,Ⅺ and O type).Their performances are various due to different enzymes,so it is easy to misdiagnosis and missed diagnosis in GSDs. If the patients with GSD-Ⅰ or Ⅲ type can get early diagnosis and treatment on diet,they can obtain the similar growth, development and quality life as that of the normal ones.Along with the deepening of GSDs gene research,the diagnosis and classification to GSDs has larger progress,gene therapy has been in the stage of animal experiments.In children, because of the low incidence in GSDs, the epidemiological and clinical data of GSDs need to be further accumulated, the diagnosis and treatment also need to be further researched. Object:This study aims to analysis the clinical characters of GSDs and to sum up the experience in diagnosis and treatment, by evaluating to clinical manifestation,laboratory and histological examination.Methods:1.Research object:All patients were enrolled in this study, whose discharge diagnosis was considered GSDs, in Children’s Hospital of Chong Qing Medical University from January2002to December2011.2.Methods:According to diagnostic criteria, the recent information (such as development,treatment and so on) about the cases was obtained by follow-up via telephone,letters, or taking clinical examination in our hospital, and then was reevaluated and analyzed retrospectively.3.Statistical analysis:The clinical data was analyzed by the Statistical software SPSS17.0and Microsoft Office Excel2003.The qualitative data was tested by fisher’s exact test,and the quantitative data were expressed by median(M) and the range of the data,and tested by two-sample t-test,P<0.05means that there is a statistical significant difference.Result:1.In our group,male:female=13:11.Among of them,the onset age is less than1year in8cases(33.3%),1-3years(yrs) in11cases (45.8%),3-5yrs in1case(4.2%),more than5yrs of age in4cases(16.7%).The diagnostic age is less than1year in4cases(16.7%),1～3yrs in9cases(37.5%),3-5yrs in6case(25.0%),more than5yrs of age in5cases(20.8%).2. There is no significant differences(P=0.154)between male and female of onset age (1.87yrs,0.08～9.58yrs).But there is a significant difference between male and female of diagnostic age (2.38yrs,0.17～15.25yrs),the female’s diagnostic age(3.17yrs)is older than male’s(2.33yrs).3. There are22/24cases(91.7%) with hepatomegaly, and liver obvious enlarged in20/22(90.9%);15/24cases(62.5%) with splenomegaly.4. The growth retardation was found in13/18cases(72.2%) in different degree, especially, the deficiency on height and weight was found in11/18cases(61.1%) and6/24cases(25.0%),separately.5. The history of hypoglycaemia symptom (seizures) was found in3/24cases(12.5%).6. The fasting blood sugar level decreased was found in13/24cases (54.2%), range for (0.31～3.66mmol/L); the increasing level of blood lactic acid,ammonia, ALT, triglyceride and total cholesterol was found in12/16cases(66.7%),9/14cases(64.3%),21/24cases (87.5%),12/20cases(60%) and3/20cases(15%) separately.7. The abdominal ultrasound examination was performed in22/24(91.7%) cases,which showed hepatomegaly in different degree; and also the result of that showed the diffuse enlarged kidney in1/24cases(4.5%). 8. In histopathological examination, liver puncture was performed in24cases. Light microscopy findings are plant-like hepatocytes in60%cases,steatosis in20%cases,cholestasis in10%cases,mild fibrosis in55%cases, fibrosis in5%cases and PAS positive in80%cases.The electron microscopy appearance of the liver denotes abundant accumulation of cytoplasmic,hepatocytes are markedly enlarge in all cases(100%).9.There are13/24cases followed up.Among of them,2/13cases have gotten liver transplantation;4/13cases were taken oral UCCS, there is a significant difference(P=0.036) in height for age Z score between before and after the treatment.There is no significant difference in weight for age Z score(P=0.843), liver size(P=0.138) and liver function(P=0.277);7/13cases haven’t gotten regular treatment, there is no significant difference (P>0.05) in the four indexes mentioned above.Conclusion:Hepatic GSDs are usually onset from infancy period.It is characterized by fasting hypoglycemia,hepatomegaly and/(or) splenomegaly, growth retardation. Fasting blood-glucose,liver function,blood lactate, ammonia, fat,abdominal ultrasound examination and bone mineral density are important on monitoring the disease activity. Liver histopathological examination is a very important diagnostic method.For GSD-Ⅰ and Ⅲ,oral UCCS is the main nutritional therapy that can improve clinical symptoms and delay the long-term complications.Except liver transplantation,there is no specific treatment for other types of GSD by now.Gene therapy is still being in study. |
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