颅脑损伤合并高渗高血糖非酮症性昏迷的诊治

目的总结颅脑损伤患者合并高渗高血糖非酮症性昏迷的诊治经验.方法回顾分析11例颅脑损伤合并出现高渗、高血糖非酮症性昏迷的诊断及治疗经过.结果6例病人纠正了高渗状态,其中恢复正常生活、工作2例,生活自理3例,长期昏迷1例.死于高渗生休克5例.结论注意防止颅脑损伤所致的高渗高血糖非酮症性昏迷是降低死亡率和病死率的重要环节之一.     

非酮症高渗性糖尿病昏迷的水化治疗(附23例报告)

目的 探讨非酮症高渗性糖尿病昏迷的水化疗法。方法 8年来我们对23例非酮症高渗性糖尿病昏迷患者采用了水化治疗方法,在常规内科治疗方法的基础上同时口服或胃管灌注温开水进行消化道补液治疗。结果 采用水化治疗12小时后,血糖、血钠及血浆渗透压即开始下降,24小时后明显下降。除3例死于严重的多系统器官功能衰竭外,其余均治愈。结论 水化治疗方法简单、安全、有效。     

严重高血糖的老年糖尿病非酮症高渗性昏迷22例临床分析

目的 探讨严重高血糖的老年糖尿病非酮症高渗性昏迷的临床特点.方法 回顾分析一组血糖在70 mmol/L以上的老年糖尿病非酮症高渗性昏迷病历情况,并与血糖在33.3～55.5 mmol/L的老年糖尿病非酮症高渗性昏迷对照,比较两组治疗后的血糖变化、胰岛素用量及病死率等.结果 观察组治疗48 h后血糖下降无显著性(P＞0.05),平均每日胰岛素用量为(780±38)u,对照组为(162±12)u,P＜0.01,病死率为86.4%(对照组为25.7%,P＜0.01).结论 入院时血糖严重升高的老年糖尿病非酮症高渗性昏迷患者治疗难度大,预后差,病死率高.     

53例高渗性非酮症糖尿病昏迷临床分析

目的：探讨高渗性非酮症糖尿病治疗方法。方法：对53例糖尿病患者诊断和治疗进行分析。结果：收治的53例患者，13例死亡，其中5例死于合并脑血管疾病。结论：高渗性非酮症糖尿病早期诊断，早期治疗可降低病死率。     

ABNORMAL PATTERNS OF URINE AND SERUM AMINO ACIDS IN METHYLMALONIC ACIDEMIA

Abnormal patterns of serum and urine amino acids were found in our patient with the recently discovered inborn error Methylmalonic acidemia. The most distinct findings were increased serum and urine concentrations of lysine and glycine. In addition, the serum levels of leucine, isoleucine, valine, threonine and glutamic acid, and the urinary excretion of valine, threonine and ornithine were increased. Both the clinical picture and the amino acid patterns resemble those found in the ketotic form of Hyperglycinemia. Recent studies indicate that hyperglycinemia consists of at least two separate diseases, methylmalonic acidemia and propionic acidemia.     

严重高血糖的高渗性非酮症高血糖昏迷救治的临床分析

目的探讨严重高血糖的老年高渗性非酮症高血糖昏迷的临床特点。方法回顾分析一组血糖在70mmol／L以上的老年糖尿病非酮症高渗性昏迷病历情况，并与血糖在33．3～66．6mmol／L的老年高渗性非酮症高血糖昏迷对照。比较两组治疗后的血糖变化、胰岛素用量及病死率等。结果观察组治疗48h后血糖下降无显著性（P〉0．05），平均每日胰岛素用量为（250±18）u，对照组为（82±7）u，P〈0．01，病死率为91．3％（对照组为23．4％），P〈0．01。结论入院时血糖严重升高的老年高渗性非酮症高血糖昏迷患者治疗难度大，预后差，病死率高。     

Hyperglycaemic hyperosmolar nonketotic state as a cause of low gonadotrophin levels in postmenopausal diabetic women: a role for severe hypernatraemia

Hypogonadotrophic hypogonadism is associated with uncontrolled diabetes mellitus. Hyperglycaemia is a unique metabolic abnormality of the hyperglycaemic hyperosmolar nonketotic state (HHNKS) and, as glucose availability regulates gonadotrophin release, we investigated whether gonadotrophin release is inhibited in diabetic women with HHNKS, and whether hyperglycaemia, hypernatraemia or both inhibit in vitro gonadotrophin-releasing hormone (GnRH) expression in GT1-7 neurones. Three groups of postmenopausal women were studied: nine diabetics with HHNKS, nine hospitalised ill nondiabetics and 15 healthy women. In addition, the effects of glucose (5.55, 33.3, 66.6 mmol/l) and sodium chloride (150 and 170 mmol/l) on GnRH expression were investigated using GT1-7 neurones. Postmenopausal diabetics with HHNKS showed a decrease in serum levels of luteinising hormone (diabetic HHNKS 2.2 +/- 0.9 IU/l versus ill nondiabetic 21.0 +/- 2.3 IU/l and healthy controls 20.9 +/- 2.8 IU/l, P < 0.01), follicle-stimulating hormone (diabetic HHNKS 8.2 +/- 2.1 IU/l versus ill nondiabetic 50.4 +/- 9.1 IU/l and controls 60.2 +/- 6.9 IU/l, P < 0.01) and free 3,5,3'-triiodothyronine (diabetic HHNKS 1.48 +/- 0.57 pmol/l versus ill nondiabetic 4.28 +/- 0.26 pmol/l and controls 3.88 +/- 0.11 pmol/l, P < 0.01). The plasma cortisol level was higher in both diabetic (985 +/- 130 nmol/l) and ill nondiabetic (726 +/- 52 nmol/l) women than in healthy women (512 +/- 47 nmol/l), but no differences were observed in plasma oestradiol, thyroid-stimulating hormone or free thyroxine. In vitro GT1-7 neurones expressed three-fold less GnRH at 170 mmol/l than at 150 mmol/l NaCl, whereas changing glucose concentrations in the culture medium did not affect GnRH expression. In conclusion, postmenopausal diabetic women with HHNKS show decreased serum gonadotrophin levels, and severe hypernatraemia may participate in the hypogonadotropism observed in HHNKS.     

非酮症性高血糖合并偏侧舞蹈症临床与影像特征分析

目的 探讨非酮症性高血糖合并偏侧舞蹈症的临床表现及影像学特征.方法 对7例非酮症性高血糖合并偏侧舞蹈症患者的临床资料进行分析,并复习相关文献.结果 7例患者均为中老年人,急性发病,发病时血糖水平为15.7～32.7 mmol/L、酮体阴性;表现为偏侧肢体舞蹈样症状.影像学特征:CT显示病变对侧的纹状体于早期呈高密度,短时间内可消失;MRI于T1加权像呈高信号,T2加权像呈低或等信号.降低血糖联合氟哌啶醇等药物治疗对控制舞蹈样症状有效.结论 非酮症性高血糖、偏侧舞蹈症以及MRI表现为纹状体T1高信号,提示偏侧舞蹈症的临床综合征.     

Propionyl-CoA carboxylase deficiency with overflow of metabolites of isoleucine catabolism at all levels

An 11-year old girl with spastic paraplegia and mental retardation has suffered from attacks of metabolic acidosis since the age of 18 months. Ketotic hyperglycinemia was diagnosed when she was 3 years old. Reinvestigation at 9 1/2 years included a two-day load with L-isoleucine, and propionyl-CoA carboxylase assay in cultured fibroblasts. The following compounds increased following the load: 3-hydroxypropionic acid, 2-methyl-3-hydroxybutyric acid, 2-ethylhydracrylic acid, 3-hydroxy-n-valeric acid, 3-oxo-n-valeric acid, 2-methyl-3-oxobutyric acid, 2-oxo-3-methylvaleric acid, 2-methyl-3-oxovaleric acid, N-tiglylglycine, methylcitric acid and butanone. Small amounts of alloisoleucine appeared in plasma. Propionyl-CoA carboxylase deficiency was suggested by this metabolite pattern and demonstrated in cultured fibroblasts.With support of the Landesamt für Wissenschaft und Forschung des Landes Nordrhein-WestfalenWith support of Het Praeventiefonds     

Paradoxical increase in seizure frequency with valproate in nonketotic hyperglycinemia

Nonketotic hyperglycinemia (NKH), or glycine encephalopathy, is an autosomal recessive disorder caused by a defect in the glycine cleavage enzyme system. In neonatal-onset NKH, patients manifest lethargy, hypotonia, apnea, and intractable epileptic seizures that are not specific to this disease. We experienced a 6-year-old girl with spastic quadriplegia, intractable epilepsy, and mental retardation, all initially regarded as sequelae of neonatal meningitis. The seizure frequency was transiently increased when valproate was started. Head MRI revealed progressive brain atrophy and white matter loss with high intensity signals on T2-weighted and diffusion-weighted images, which prompted us to conduct further metabolic workups. High glycine levels led us to suspect NKH, and we confirmed this diagnosis by the non-invasive, ¹³C-glycine breath test. DNA sequencing revealed novel Leu885Pro/Trp897Cys mutations in the glycine decarboxylase gene that were transmitted from both parents. Sodium benzoate and dextromethorphan dramatically decreased her hypertonicity. Our case shows that paradoxical increases in seizure frequency following valproate can be a clue for a diagnosis of NKH, and that a correct diagnosis of NKH can greatly alter the quality of life in such patients.