糖原貯積症第Ⅰ型－經由活體肝穿刺切片酵素定量診斷之一例

本文報告一經由肝臓活體穿刺切片，以生化及組織化學方法作肝組織Glucose-6-phosphatase活性之定量，而診斷爲第Ⅰ型糖原貯積症之病例。病人爲6歲男童，因生長遲滯、身材矮小而住院，自幼即有低血糖症狀，其智力正常。異常系列化檢查包括：肝機能異常，血液中之尿酸、脂質、乳酸、丙酮酸深度增加，血糖過氏，血糖對腎上腺素及昇糖素之反應不住，葡萄糖而受試驗曲線延長，動脈血氣體分析顯示有代謝性酸血症，出血時間、凝血酶元時間(Prothrombin Time)及部分凝轎活素時間(Partial Thromboplastin Time)均延長。肝臓活體穿刺切片可見肝細胞腫大，並有大量糖原貯積。以生化方法定量gLUCOSE-6-phosphatase，其活性幾近於零，組織化學方法檢查亦無Glucose-6-phosphatase反應，因而診斷爲第Ia型糖原貯積症。

關鍵字

無資料

並列摘要

A case of glycogen storage disease type Ia confirmed by glucose-6-phosphatase determination of the liver biopsy tissue is reported. The six-year-old boy was admitted with the chief complaints of growth retardation since early infancy and hepatosplenomegaly of 3-year duration. The body weight 14kg and the body height 92cm on admission which are both below the 3rd percentile of the standard. The liver was 8cm palpable below the right costal margin and the tip of the spleen was also palpable. There was no ascites. Various biochemical data of the serum were as follows: fasting sugar 40mg/dl, triglyceride 777mg/dl, cholesterol 195 mg/dl, uric acid 11.3mg/dl, SGOT 777K. U., SGPT 43K. U., LDH 2,269 C. W. U., alkaline phosphatase 24KAU, lactate 4.96mmole/L (control 1.36mmole/L), pyruvate 0.21 mmole/L (control 0.041mmole/L), metabolic acidosis after prolonged fasting, prolonged glucose tolerance and poor response to epinephrine and glucagons loading. Prolongation of the bleeding time, prothrombin time and partial thrombolastin time were also noted. Intravenous pyelography showed enlarged kidneys without abnormality of calyces. The glucose-6-phosphatase activity of the fresh liver biopsy tissue was only 0.97 units (control 27 units). The light and electron microscopic studies demonstrated swollen hepatocytes with glycogen accumulation. A histochemical study of the cryostat frozen sections of the liver tissue revealed no activity of glucose-6-phosphatase. Thus type Ia glycogen storage disease was confirmed. The patient is now receiving intermittent oral maltose feedings every night.

並列關鍵字

glycogen storage disease ； von Gierke's disease ； Glucose-6-phosphatase deficiency

國際替代計量

糖原貯積症第Ⅰ型－經由活體肝穿刺切片酵素定量診斷之一例

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