| Objectives: Clinical features of44children with Hepatic GlycogenStorage Disease were analyzed to improve diagnose, decrease misdiagnoseand improve prognosis.Methods:44children with Hepatic GSD confirmed in Children’sHospital of Chongqing Medical University from January,1996toDecember,2013were analyzed Retrospectively．Results:(1)General information: Male:female≈1.3:1. The median onset agewas1.5years old，mainly between1to2years old(38.6%). The mediancourse was4.5months,mainly under3months (50%). The onset agedistribution was not significantly different in different sexes(P>0.05).(2)Clinical manifestation: The most common symptom washepatomegaly or abdominal distention(20/44,45.4%) found by accident,followed by the abnormal liver function (7/44,15.9%), jaundice (6/44,13.6%). Six cases (13.6%) were accompanied with hypoglycemiasymptoms, five cases (11.4%) were accompanied with convulsions. Fivecases (11.4%) had infections frequently and the most common infectionwas respiratory tract infection (80%).There was no significant difference of clinical manifestations in different age groups. The rate of heights/lengthsunder P3was17/27(63.0%) and rate of heights/lengths in P3～P25was2/27(7.4%). The rate of the weights under P3was11/43(25.6%)and rate ofweights in P3～P25was5/43(11.6%).Height retardation was more distinctthan weight.In these44cases,41/44(93.2%) were accompanied byhepatomegaly, in which25/41(61.0%) were severe. Twenty-two cases(50%)were accompanied by splenomegaly, in which11/22(50%) weremild.There was a significant difference of severity between hepatomegalyand splenomegaly(P<0.05).(3)Laboratory examination: In the44cases,40cases(90.9%) had ALTincreased,42cases(95.5%) had AST increased.The rate of hypoglycemiawas10/36(27.8%). The increase of serum triglyceride (22/31,71.0%) wasmore common than cholesterol (9/31,29%). The rate of increased serumammonia was19/25(76%),22/33(66.7%) had increased serum lacticacid,7/21(33.3%) had decreased serum PH and12/35(34.3%) hadincreased serum uric acid. There was no obvious difference of laboratoryexaminations among different age groups (P>0.05).(4) Hepatic pathology: Under optical microscope,17/41(41.5%) ofthe liver biopsy specimens showed that hepatocytes seemed like plant cells,20/41(48.8%) had fibrosis at the portal area,8/41(19.5%) had hepatic fattydegeneration. PAS positive rate was100%(31/31).Under Electronmicroscope,there were a large number of high-electron-dense grains in the cytoplasm,6/11(54.5%) had liver fibrosis, all of them were mild or mild tomoderate.(5) Treatment and outcomes: Sixteen cases were followed up, one casewho did not take UCCS died a month after. Symptoms, liver function,blood glucose were improved.Liver reduced, and the growth in height ofpatients who took UCCS was close to normal children of the same ages.Conclusions:Hepatic GSD has an early onset age and is latent, mostlyin early childhood,usually imperceptible. The clinical manifestations arevaried.Hypoglycemia, hepatomegaly,growth retardation, abnormal liverfunction,increase of serum lactic acid, metabolic acidosis and increase ofserum triglyceride are the main clinical features.Splenomegaly ismild,height retardation was more distinct than weight.Pathologicalexamination is a diagnose way.The liver fibrosis is usually mild.HepaticGSD can be classified by the clinical manifestations and pathologic results.Diet therapy and UCCS taking are effective treatments of hepatic GSD.Prognosis will likely be improved by regularly monitor of treatmentcompliance, clinical manifestation, biochemical index,iconography and soon. |
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