永久性新生儿糖尿病10例临床分析

<正>新生儿糖尿病(neonatal diabetes mellitus,NDM)是指生后6个月内发生的糖尿病[1-3],根据疾病转归的不同可分为暂时性(TNDM)和永久性(PNDM)两种类型。PNDM为终身性疾病,约占NDM的50%,     

ATP敏感性钾通道Kir6.2激活突变与永久性新生儿糖尿病

新生儿糖尿病(neonatal diabetes mellitus,NDM)多是指生后3个月内开始发生的糖尿病,是糖尿病中的一种特殊类型.发病率极低,在欧美发病率约为1/40万～1/45万活婴.     

基因变异新生儿糖尿病一例报道暨文献复习

目的介绍基因变异新生儿糖尿病(NDM)的临床表现、辅助检查与治疗转归。方法报道1例基因变异NDM患儿,回顾分析该患儿临床资料及诊疗过程,并复习国内外相关文献。结果本例患儿生后第1天静脉血糖3.86mmol/L,微量血糖3.0mmol/L,第2天微量血糖增高,有一次8.0mmol/L。第4天每6h测微量血糖分别为9.4、9.2、7.7、11.1mmol/L,第5天分别为7.7、11.1、13.8、13.8mmol/L,静脉血糖:13.6mmol/L,查胰岛素1.85mIu/L,C肽0.066ng/ml,抗胰岛细胞抗体、抗谷氨酸脱羧酶抗体、抗胰岛素抗体均为阴性,胰岛素治疗效果欠佳,基因检测患儿KCNJ11及INS基因突变。生后第32天开始口服格列本脲,生后第40天加量至1.4mg,每天2次,患儿血糖控制稳定。结论当KCNJ11基因发生突变时导致KATP通道关闭发生障碍,胰岛素分泌下降,引起NDM。磺脲类药物对KATP通道异常导致的NDM疗效优于胰岛素。     

新生儿糖尿病1例治疗体会

<正>患儿,男,16 d,因发现血糖增高16 d入院,患儿系第2胎第1产,足月出生,出生体重1.8 kg,否认宫内窘迫及羊水污染,1、5、10 min Apgar评分均为10分。生后因"体重低"入当地医院诊治,治疗期间血糖进行性增高,查胰岛素水平低(<0.2μIU/mL),予胰岛素皮下     

KCNJ11基因突变引起的新生儿糖尿病1例

<正>患儿,男,1 h,因双胎之大、低出生体重收入院。患儿为第2胎第1产,孕37周因"双胎妊娠"行剖宫产出生,臀位,试管婴儿,双卵双胎,双胎之大,出生体重2050 g。无胎膜早破,羊水、胎盘无异常,脐带绕颈1周,Apgar评分1 min、5 min、10 min均为10分。入院体查:T 35.4℃,P     

腺苷对豚鼠心室肌细胞动作电位及ATP第三性钾通道作用机制的探讨

目的 探讨腺苷拮抗异丙基肾上腺素对豚鼠砂肌动作电位和心室肌细胞ＡＴＰ敏感性钾通道（ＫＡＴＰ）的作用,ＫＡＴＰ在儿茶酚胺增高性室性心动过速的作用机制。方法 采用玻璃微电极及全细胞膜片钳方法,分民录异丙基肾上腺素、异丙基曳上腺素加腺苷对豚鼠乳头肌动作电位及心室肌细胞ＫＡＴＰ的影响。结果 （１）异丙基肾上腺素可延长动作电位的过程（ＡＰＤ）、诱发早期后除极（ＥＡＤ）,延迟后除极（ＤＡＤ）及触发激动,增加Ｌ     

新生儿糖尿病研究进展

大部分新生儿糖尿病(NDM)发柄与基因突变有关,部分NDM应用磺脲类药物治疗可取得良好疗效。新近研究从分子水平上阐明了NDM的发病机制及磺脲类药物的作用机制。另有研究表明糖化白蛋白是反映NDM血糖控制的有用指标。文章综述近年对NDM研究的进展。     

新生儿糖尿病的分子诊断

糖尿病在新生儿中极罕见,发生率约1/400000新生儿,常与胰岛素分泌不足有关,50%患儿确诊后需终生治疗,其余表现为暂时性发病,但缓解后有可能复发。新生儿糖尿病(NDM)的病因与儿童期发病的胰岛素依赖型糖尿病不同。近期研究发现,其     

新生儿身长与母亲宫颈溶脲脲原体感染关系的研究

目的：探讨溶脲脲原体(UU)感染与新生儿身长的关系。方法：随机选取85例足月妊娠(38～40周)孕妇行宫颈粘液UU培养,同时B超检测其胎儿身长(顶跟长);于孕妇分娩后测量其新生儿身长。结果：85例孕妇宫颈粘液UU培养阳性率为42 .4%;UU培养阳性组孕妇的胎儿身长为(47.2±1.5)cm,新生儿身长为(48±4)cm,均明显低于UU培养阴性组分别为 (48.7±1.3)cm和(51±5)cm,两组差异有显著性意义(P<0.01)。结论：UU可经母体泌尿生殖道上行感染传播给胎儿,影响胎儿身长与新生儿身长。     

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目的观察格列本脲治疗新生儿糖尿病(NDM)的疗效。方法收集2010年4月至2011年1月于我院收治并确诊为NDM的4例患儿临床资料,对其进行用格列本脲替代胰岛素治疗的前瞻性研究,分析用格列本脲治疗NDM的方法及疗效,并进行KCNJ11基因和ABCC8基因分析。结果 4例患儿出生体重2.5~3.0kg,就诊年龄3d至2个月,来诊时血糖均明显升高(30.5~45.3mmol/L),均伴有酮症酸中毒。入院后均给予胰岛素治疗,酮症酸中毒纠正,血糖降至15mmol/L以下时,给予格列本脲替换胰岛素治疗,其中2例(50%)格列本脲用量分别为每天0.5mg/kg及0.6mg/kg时可完全停用胰岛素。随访至观察截止日分别为9个月及7个月,均仍然需服用格列本脲每天0.3mg/kg,血糖基本正常,未见明显副反应发生。例2患儿的KCNJ11基因中发现一个突变(R201H),其余3例未发现突变。结论部分NDM患儿应用格列本脲治疗有效,可免除胰岛素注射的痛苦,因此对确诊NDM的患儿应试用本药治疗;同时对NDM患儿应进行KCNJ11基因和ABCC8基因分析,有助于本病临床预后的判断。     

Neonatal Macrosomia and Hypoglycaemia in Children of Mothers with Insulin-Treated Gestational Diabetes Mellitus

ABSTRACT. All newborn children to mothers with gestational diabetes mellitus (GDM) in the county of Örebro were investigated during a one year prospective study. Neonatal macrosomia (birthweight > 3 SD) was observed in 27% of children of mothers with GDM and was significantly correlated to the cord C-peptide concentration. Hypoglycaemia (B-glucose <1.5 mmol/l) was observed in 38% of the children, most frequently two hours after delivery. Hypoglycaemia was not more common in macrosomic children and could not be predicted by the blood glucose concentration of the mother at delivery or by the cord C-peptide level. It is concluded that mothers with GDM must be intensively treated in order to avoid the occurrence of macrosomia in their infants and that the newborn child must be carefully observed and treated in order to avoid neonatal hypoglycaemia.     

Transient Neonatal Diabetes Mellitus in a Pair of Twins

ABSTRACT. The occurrence of transient neonatal diabetes mellitus in male twins with almost identical courses of illness is reported. A trial with chlorpropamide treatment of twin A had no obvious influence on the insulin consumption or on duration of treatment. Very low values of plasma C-peptide and serum proinsulin with no detectable insulin antibodies supports the theory of delayed maturation of the beta-cell.     

Epidemilogy of Insulin-Dependent Diabetes Mellitus in Korea

The prevalence of diabetes mellitus in the age group5–16 years, determined from 13,152 subjects residing in Kwangju, Chonnam Provice was 0.099 per cent or 98.9/100,000 in a study performed from December, 1976 to June 1977. On the other hand an epidemiologic study carried out on 254,835 subjects in the age groups14–15 and17–18 years from March 1981 to March 1982 in Seoul City revealed on overall prevalence of 7.85/100,000. In a retrospective study, 88.0/100,000 or out of a total of 10,228 pediatric inpatients were confirmed casesw of insulin-dependent diabetes mellitus, during 7 years and 2 months (from january 1974 to March 1981) at a general hospital located in Jeonju City. The wide range in the prevalence and incidence figures of diabetes mellitus in Korean children probably resulted from lack of uniformity in epidemiological methodology and the degree of ascertainment. The adge distribution at onset of diabetes mellitus showed a gradual incdrease and peak incidences at 3,8 and 12 years of age. The4 sex difference in incidence was not obvious, though girls slightly outnumbered boys. Seasonal variation at onset of diabetes mellitus showed the highest frequency of new cases in winter and spring months.     

Transition from insulin to glyburide in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11

Initial management of neonatal diabetes mellitus consists of insulin and adequate calories for growth. Once a genetic diagnosis is made, most patients with neonatal diabetes caused by mutations in the KCNJ11 gene can be successfully managed with a sulfonylurea agent without the need for insulin. We report on the transition from insulin to glyburide (glibenclamide) therapy in a 4-month-old girl with neonatal diabetes mellitus caused by a mutation in KCNJ11. Dosing of glyburide three times daily was critical for her successful transition.     

儿童1型糖尿病90例

目的探讨儿童1型糖尿病(IDDM)的发病情况、临床特点、远期并发症及酮症酸中毒(DKA)的治疗。方法回顾性分析1993～2003年我院90例IDDM患儿的发病情况,临床特点,远期并发症,并探讨DKA的治疗。结果10～16岁儿童发病率最高,感染是诱发DKA的常见原因,未长期坚持胰岛素治疗易导致IDDM远期并发症的发生。结论小剂量胰岛素持续静滴、纠正水电解质紊乱、调节酸碱平衡是抢救DKA的关键;坚持长期胰岛素治疗是防治远期并发症IDDM的关键。     

Characterization of Diabetes Mellitus in Japanese Prader-Willi Syndrome

Prader-Willi syndrome (PWS) is frequently associated with marked obesity and diabetes mellitus (DM). Although the overall frequency of DM in PWS ranges from 7–20%, there is only limited data available on Japanese patients. This study evaluated five factors associated with DM in PWS: 1) frequency, 2) age of onset, 3) risk factors, 4) long-term complications and 5) treatment. Sixty-five patients, ranging in age from 10 to 53 yr, were studied retrospectively. The frequency of DM in patients over 10 yr of age was 26.2% (17/65 patients). The age of DM onset ranged from 10 to 29 yr with a median age of 15 yr. The body mass index (BMI) was significantly higher in the DM group in comparison with the non-DM group. The number of patients using growth hormone (GH) in the DM group was significantly lower than the number that did not. Proteinuria (urinary excretion of albumin/creatinine at spot collection: U-Alb/Cr ≥300 mg/gCr) was observed in 1/17 patients (5.9%), microalbuminuria (U-Alb/Cr 30–300 mg/gCr) was observed in 4/17 patients (23.5%) and nonproliferative retinopathy was observed in 2/17 patients (11.8%). Among oral hypoglycemic agents, alpha-glucosidase inhibitors (α-GI) were most often used in our patients (10/17, 58.8%). Eleven out of 17 patients (64.7%) had been treated with insulin.     

儿童糖尿病198例

目的 探讨儿童糖尿病(DM)的临床特点,为临床诊治提供理论依据.方法 对1999年1月-2009年3月在本院住院的198例DM患儿的临床表现和实验室检查进行回顾性临床分析.结果 198例DM患儿中,男97例,女101例.均为首诊病例;发病高峰年龄为5～6岁及9～11岁;首诊例数逐年增加,2008年较1999年增加了3.7倍;其中1型糖尿病(T1DM) 174例(占88.9％),2型糖尿病7例(占3.5％),新生儿DM 14例(占7.1％),其他3例(占1.5％).首诊的TlDM患者中,酮症酸中毒(DKA)的发生率为42.0％;发病前有感染史者55例,与无感染史者比较,DKA的发生率有统计学差异(P＜0.01).有DM家族遗传史者23例.并甲状腺功能亢进症2例;并暂时性甲状腺功能减低症31例;并肝功能异常30例,肾功能异常12例,血脂异常48例,尿蛋白阳性27例.糖化血红蛋白为(12.0±1.8)％;共分析了25例T1 DM患者的自身抗体,胰岛细胞抗体阳性率为28％,胰岛素自身抗体的阳性率为20％,谷氮酸脱羧酶自身抗体(GADA)阳性率为72％.结论 首诊的儿童DM逐年增加,以T1DM为主;新生儿DM增加明显;DKA是T1DM患者就诊的重要原因;首诊的T1DM者中,感染是发生DKA的重要诱因;儿童DM常合并暂时性甲状腺功能减低症、肝肾功能异常及血脂异常;糖尿病自身抗体中GADA的阳性率最高.     

Report of a Japanese Girl with Marfan Syndrome Associated with Insulin-Dependent Diabetes Mellitus

A 3 year old girl was admitted to hospital in an emaciated condition and with polydipsia in October 1974. Following the diagnosis of diabetes mellitus, she Received treatment with insulin. On the first admission, a systolic murmur was noted at the apex of the heart. In 1981, the murmur was found to be continuous with a systolic click, and echocardiography demonstrated a mitral valve prolapse. In 1982, electrocardiography revealed left ventricular hypertrophy, and the patient's X-ray showed vertebral kyphoscoliosis. Ophthalmological examination revealed slightly impaired visual acuity and a mild case of cataracts in 1986. The patient grew to be tall and thin with arachnodactylia of the hands, fingers, feet and toes. These symptoms and findings were compatible with Marfan syndrome, although the ophthalmological findings are not specific for this disease. This patient is the first case in Japan of Marfan syndrome associated with insulin-dependent diabetes mellitus, although the relation between Marfan syndrome and IDDM remains unclear.