肝糖原累积病并甲型肝炎1例

患者,女,26岁,于1997年3月因发热。乏力、尿黄一周就诊,查ALT1400u／L、TBil54μmol／L,抗HAV－IgM阳性,其它各肝炎病毒指标检查均为阴性,在当地医院诊断为“甲型肝炎”,应用常规治疗,乏力无缓解,ALT、TBiL持续波动于80u／L～237u／L,19μmol／L～127μmol／L之间,抗HAV－IgM持续阳性至同年10月,期间反复查B超示慢性肝损害,1998年2月查CT示肝硬变,为求明确诊断转入解放军302医院。入院后体检：发育正常,体型稍胖,皮肤无黄染,无肝掌及蜘蛛德,心肺听诊无异常,腹壁静脉无曲张,肝脾助下未及,移动性浊音阴性,…     

糖原累积病Ⅲ型的心脏表现

目的:总结糖原累积病Ⅲ型(GSDⅢ型)患者心脏改变的临床特点。方法:收集46例GSDⅢ型患者的临床资料,分析其心电图(ECG)和超声心动图(Echo)结果。结果:45例(97.8%)无明显心脏相关症状,10例心电图异常,分别为左室肥厚3例,PR间期延长3例,T波改变2例,双心室肥厚伴QT间期延长、单纯QT间期延长各1例。Echo异常15例,其中心室肥厚5例,单纯左房增大4例,并发先天性心脏病、少量心包积液各3例。心脏异常与肝功能和肌酸激酶水平无关(P>0.05)。结论:GSDⅢ型患者可能并发多种心脏损害,但起病隐匿,需提高警惕并定期行ECG和Echo检查,如出现心脏功能障碍,应进行相应药物治疗。     

糖原累积病Ⅲa型继发糖尿病1例报告并文献复习

糖原累积病(glycogen storage disease,GSD)是由于参与糖原合成或分解的酶突变而导致糖原在靶器官内蓄积的一组遗传代谢性疾病。根据酶缺陷的不同,GSD有十多种类型。GSD HI型是糖原脱支酶(glycogen debranching enzyme,GDE)活性缺陷而引起的一种常染色体隐性遗传病。GDE有2种催化活性:淀粉-1,6-葡萄糖昔酶(amyloglucosidase,AGL)活性和寡聚-1,4-1,4-葡聚糖转移酶活性,根据受累组织和酶学检查结果分为a、b、c和d四种亚型,GSD IDa型约占GSD皿型的85%[1]。     

糖原累积病Ⅱ型伴肌炎特异性抗体阳性一例

糖原累积病Ⅱ型(GSDⅡ)属于罕见疾病,常以骨骼肌、平滑肌损害为主要表现,易与炎性肌病相混淆,临床上易误诊、漏诊。本文报告1例23岁男性,以肌酶升高和脊柱畸形为主要表现,血清抗转录中介因子1(TIF1)-γ抗体IgG(++),基因检测提示酸性α-葡萄糖苷酶(GAA)基因突变,肌肉病理提示大量糖原沉积及骨骼肌纤维空泡变性,确诊为GSDⅡ。通过复习相关文献,探讨糖原累积病Ⅱ型的临床表现、诊断和鉴别,提高风湿科医生对GSDⅡ以及肌炎特异性抗体的认识。     

肌糖原累积病6例临床分析

肌糖原累积病为一少见疾病，本文通过６例病例报告，对其发病机理、临床表现等作一复习，并提出要从临床症状，实验室检查，肌肉病理和组化等几个方面与线粒体肌病相鉴别。     

糖原累积病致痛风性关节炎截肢一例

患者男 ,2 9岁。因双足反复肿痛 1 0年 ,溃烂 3年 ,加重半年 ,于 2 0 0 2年 6月 1 3日入本院内分泌科。 1 0年前患者无明显诱因反复出现双足拇趾、第一跖趾及左外踝关节肿痛伴发热。双足跖趾关节处逐渐出现肿块 ,并增大至核桃大小。5年前在本院骨科住院 ,化验血尿酸 92 0 μmol/L、空腹血糖3 2mmol/L、血甘油三酯 1 2 2mmol/L。行肿块活检术 ,病理证实为痛风石。先后出现双膝、肘、指、掌指及腕关节红、肿、痛。 3年前 ,双足肿胀处出现多个类似肿块 ,缓慢增大融合 ,出现溃烂 ,不易愈合。半年前 ,症状加重而不能下床行走。患者 1 9岁出现…     

肝糖原累积病1例

患儿,女,12岁,因腹部膨隆,反复鼻出血2年,加重伴肝区疼痛1周入院。患儿家属2年前发现其腹部膨隆,常鼻出血,面色苍白,未引起重视,入院前1周患儿出现肝区持续性胀痛,无放射痛,无恶心、呕吐、厌油,无腹泻。当地医院查肝功示丙氨酸氨基转移酶（ALT）109U／L,天冬氨酸氨基转移酶（AST）101U／L,碱性磷酸酶（ALP）144U／L,TBil8．5μmmol／L,总蛋白（TP）85．10g／L,     

无症状的糖原累积病同胞早期肌电图的发现

糖原累积病(McArdle' s disease,MD)是由于肌肉磷酸化酶缺乏引起的常染色体隐性遗传的肌肉疾病。新近,Tsujino等报道了与MD有关的肌肉磷酸化酶基因几种遗传突变的类型。本文报道2例日本MD同胞早期肌电图(EMG)发现。     

糖原累积病Ⅰ型继发痛风伴生长激素缺乏一例

糖原累积病(glycogen storage disease,GSD)是一类由于先天性酶缺陷造成的糖原代谢障碍疾病,属于罕见的常染色体隐性遗传性疾病。其中Ⅰ型是由于缺乏葡萄糖-6-磷酸酶所致,发病率为10万到40万分之一。现将我院收治的1例GSDⅠ型继发痛风,伴生长激素缺乏的病例报告如下。     

肝糖原累积症1例报告

患者,女,17岁,于2005年10月无明显诱因出现腹部逐渐隆起,无畏寒、发热,无恶心、呕吐,无腹胀、腹痛、腹泻。2006年10月29日入院体检：体温36．8℃,脉搏79／min,呼吸16／min,血压108／66mmHg,全身皮肤、巩膜轻度黄染,无肝掌、蜘蛛痣,心肺检查正常,腹部饱满,腹壁静脉无怒张,肝上界位于右锁骨中线第6肋间,肝下界位于右锁骨中线肋下约15cm,表面光滑,质中,有轻压痛,脾脏于肋下5cm,无压痛。     

Cardiomyopathy of glycogen storage disease type III

Summary To identify the severity of cardiac involvement in glycogen storage disease type III (GSDIII), and its relation to skeletal muscle involvement and age, 23 patients were studied. The median age was 10 years. Echocardiography, electrocardiography, and creatine phosphokinase (CK) levels were used to assess cardiac and skeletal muscle involvement. Septal and left ventricular posterior wall measurements were compared with normal data. Shortening fraction was derived from left ventricular cavity dimensions. In some patients the echocardiogram resembled that of hypertrophic cardiomyopathy. Thirteen of 20 electrocardiograms (ECG) were abnormal. Eleven patients had septal and/or posterior wall thickness >95% confidence limits (CL). Despite this, cardiac symptoms were uncommon. The CK levels were not directly associated with cardiac abnormalities. Older patients (>20 years) had more abnormal measurements of posterior wall thickness than did younger ones (<20 years). This finding, albeit in a cross-sectional series, suggests progressive myocardial involvement with age despite the absence of symptoms.     

A case of type Ia glycogen storage disease complicated by hepatic adenoma

A 31-year-old male patient with type Ia glycogen storage disease was admitted to our department complaining of general fatigue and right hypochondriac pain. He exhibited massive hepatomegaly with systemic hypoglycemia, lactic acidosis, hyperuricemia, hyperpyruvatemia and hyperlipemia. The failure of blood glucose levels to increase after a glucagon loading test, and a reduced lactate level on glucose tolerance test were also observed. Various imaging techniques suggested hepatic adenoma with hemorrhage in the tumor, which was confirmed histologically. There was a complete absence of glucose 6-phosphatase activity, as determined by an enzyme assay on resected liver specimens, which proved the case to be type Ia glycogen storage disease. We also reviewed all previously reported cases of hepatic tumor and glycogen storage diseases. We conclude that, since hepatic adenoma is not rare in this disease, and is complicated by hemorrhage, rupture and malignancy, careful follow-ups are necessary.     

Hepatocellular carcinoma in glycogen storage disease type Ia: A case series

Summary We present a series of 8 patients (6 males, 2 females) with hepatocellular carcinoma (HCC) and glycogen storage disease type Ia (GSD Ia). In this group, the age at which treatment was initiated ranged from birth to 39 years (mean 9.9 years). All patients but one were noncompliant with treatment. Hepatic masses were first detected at an age range of 13–45 years (mean 28.1 years). Age at diagnosis of HCC ranged from 19 to 49 years (mean 36.9 years). Duration between the diagnosis of liver adenomas and the diagnosis of HCC ranged from 0 to 28 years (mean 8.8 years, SD=11.5). Two patients had positive hepatitis serologies (one hepatitis B, one hepatitis C). α-Fetoprotein (AFP) was normal in 6 of the 8 patients. Carcinoembryonic antigen (CEA) was normal in the 5 patients in which it was measured. Current guidelines recommend abdominal ultrasonography with AFP and CEA levels every 3 months once patients develop hepatic lesions. Abdominal CT or MRI is advised when the lesions are large or poorly defined or are growing larger. We question the reliability of AFP and CEA as markers for HCC in GSD Ia. Aggressive interventional management of masses with rapid growth or poorly defined margins may be necessary to prevent the development of HCC in this patient population.     

Cardiac arrhythmias and left ventricular function in respiratory failure from chronic obstructive pulmonary disease

In 22 patients with COPD, we studied the relationship between left ventricular function and cardiac arrhythmias. Ventricular arrhythmias were detected on a 24-h ECG recorded at the beginning of the observation period and after a stable improvement of RF. Left ventricular function was evaluated by equilibrium-gated radionuclide angiocardiography measuring LVEF, PER and PFR. We found a significant decrease in the arrhythmia score after improvement of RF; LVEF and PFR were slightly depressed in six and nine patients, respectively. A "step-up" multiple regression analysis revealed a significant inverse correlation between PFR and ventricular arrhythmias during worsened RF, whereas LVEF, arterial blood gases and clinical data were not significantly predictive variables. Thus, a depressed left ventricular diastolic performance seems to be a predictive factor for arrhythmias during RF from COPD. The poor definition of the statistical model suggests that other presently unknown factors contribute to the genesis of ventricular arrhythmias.     

射频消融治疗左心室特发性室性心动过速性心肌病一例

长期发作的心动过速导致心脏扩大、心功能不良或心力衰竭称为心动过速诱导的心肌病或心动过速性心脏病(tachycardiomyopathy,TCMP).     

Nutritional deficiencies in a patient with glycogen storage disease type Ib

The current mainstay of treatment in glycogen storage disease type I (GSD I) is dietary management that includes providing a frequent source of glucose to prevent hypoglycaemia. To ensure compliance, routine follow-up by a health care team, including a dietitian, experienced in the treatment of GSD is necessary. We describe an adolescent patient with GSD Ib in good metabolic control who was admitted with a 3-month history of weakness, depression, vomiting, decreased appetite and a 11.4-kg weight loss. He had a recent onset of unsteady gait, inability to write, and sore mouth. After an extensive work-up, the patient was found to have vitamin B₁₂, folate, iron and other nutritional deficiencies, which explained his symptoms. The patient improved within 72h of initiation of total parenteral nutrition and therapeutic doses of deficient micronutrients, with a complete recovery in 2 months. Dietary restrictions, dependence on non-food products (e.g. cornstarch in GSD I), and social and developmental issues place individuals with metabolic disorders at a high risk for developing an array of nutritional deficiencies. This case highlights the importance of both close follow-up of the metabolic control and close monitoring of growth and nutritional intake in individuals with inborn errors of metabolism. This case also illustrates the importance of daily supplementation with appropriate multivitamins, calcium and other minerals needed to meet the Recommended Dietary Allowances (RDAs) in these patients.