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Soliman AT elZalabany MM Bappal B alSalmi I de Silva V Asfour M 《Indian journal of pediatrics》1999,66(3):363-373
Permanent neonatal diabetes mellitus (PNIDDM) is a rare form of IDDM with unclear etiology and pathogenesis. We determined
the incidence and prevalence rates and studied the clinical and biochemical features of PNIDDM in the Sultanate of Oman. The
mean incidence rate during the study period from January 1989 to December 1994 was 1.788±0.82 per 100,000 live births per
year. At the end of December 1994 the prevalence rate was 2.4 per 100,000 children below the age of 5 years. They constituted
41.6% of all cases of IDDM in this age group. Diarrhoea, fever, lethargy, poor feeding and failure to thrive were the most
common presenting symptoms. Dehydration and tachypnoea were the most common signs. All patients who developed IDDM during
the neonatal period had intrauterine growth retardation and 4.5 presented with diabetic ketoacidosis (plasma glucose 37±9
mmol/L, pH 7.12±0.1). Hypertriglyceridemia was a constant feature (19.4±4.8 mmol/L). They were products of consanguineous
marriage with significantly high prevalence of IDDM and NIDDM in their family members. None of the infants had clinical or
immunological evidence of congenital viral infection. Three of the five children had HLA-DR2, the diabetes resistance alleles.
C-peptide secretion was absent during and after metabolic control of hyperglycemia in all the studied infants and none had
circulating islet cell antibody at presentation or during the first year after diagnosis. Despite marked growth retardation
at birth, there was a significant improvement of growth after initiating insulin therapy. Four of the 5 patients had normal
developmental milestones, one had mild developmental delay following a severe and prolonged attack of hypoglycemia. None of
the patients had exocrine pancreatic deficiency. In summary, the very high rate of parental consanguinity, occurrence in both
sexes and in two siblings in the same family, absence of islet cell antibodies and the presence of HLA-DR2 loci in 3/5 of
patients suggest that PNIDDM is a different disease process to standard IDDM in childhood and an autosomal recessive mode
of transmission. 相似文献
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The 11th case of permanent neonatal diabetes mellitus appearing during the first month of life is reported. A critical review of the literature is also presented. The permanence of diabetes is demonstrated by the duration of insulin therapy still necessary after 30 months. Insulin-stimulation tests have been performed some for the first time in such a young diabetic. They have shown a nearly total failure in β-cell response, only very high doses of glucagon provoking a moderate insulin secretion. The absence of acetonuria is discussed. It can perhaps be explained by the hyperglycemia which, by a mass effect, brings about cellular glucose penetration and this stops liberation of Nefa's from adipose tissue. 相似文献
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Understanding neonatal diabetes mellitus 总被引:2,自引:0,他引:2
Shield JP 《The Journal of pediatrics》2002,141(4):462-463
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Porter JR Shaw NJ Barrett TG Hattersley AT Ellard S Gloyn AL 《The Journal of pediatrics》2005,146(1):131-133
We describe a novel homozygous missense glucokinase mutation (R397L) resulting in insulin-treated neonatal diabetes in an infant from a consanguineous Asian family. Both parents were heterozygous for R397L and had mild hyperglycemia. Glucokinase mutations should be considered in infants of all ethnic groups with neonatal diabetes and consanguinity. 相似文献
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Neu A Willasch A Ehehalt S Hub R Ranke MB;DIARY Group Baden-Wuerttemberg 《Pediatric diabetes》2003,4(2):77-81
Abstract: Background: Since 1987, patients with newly diagnosed diabetes mellitus type 1 under 15 yr of age have been registered in Baden‐Wuerttemberg (BW), Germany. Aim: Our aim was to describe the frequency and the clinical presentation of diabetic ketoacidosis (DKA) at onset of type 1 diabetes mellitus in children. Methods: All 31 pediatric departments in BW and one diabetes center participated in this study. Hospital records of 2121 children below 15 yr of age were examined retrospectively. DKA was defined as glucose > 250 mg/dL, pH < 7.30 or bicarbonate < 15 mmol/L and ketonuria. Statistical analysis was done after logarithmic transformation. Results: 26.3% (n = 558) of all patients presented with DKA. The mean age of these patients was 7.9 yr. The frequency of DKA is higher in girls than in boys (28.9 vs. 23.8%; p = 0.0079). Those aged 0–4 yr suffered most frequently (p < 0.0001) from ketoacidosis (36.0%). The percentage of DKA in newly diagnosed cases was constant over 10 yr. 23.3% of all patients with DKA presented with an altered level of consciousness; 10.9% of these had clinical signs of coma. No deaths occurred. The proportion of ketoacidosis does not increase concurrently with the number of diabetes manifestations in winter. Conclusion: The proportion of DKA in children with newly diagnosed diabetes mellitus is significant. In particular, children < 5 yr and girls face an increased risk. DKA may be the result of a particularly aggressive subtype of diabetes. 相似文献
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新生儿糖尿病是一组异质性单基因遗传病,常被误诊为1型糖尿病.永久性新生儿糖尿病与免疫无关,主要与KCNJ 11、ABCC8和胰岛素基因等基因突变有关;多以酮症酸中毒起病,伴宫内发育迟缓、脱水.基因检测有助于疾病分型,并可根据不同致病基因进行靶向治疗.对于ATP敏感的K+通道基因突变的永久性新生儿糖尿病患儿可口服磺脲类降... 相似文献
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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。 相似文献
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Türkmen M Ulucan H Aydoğdu SA Biçkici A Inan G 《Journal of pediatric endocrinology & metabolism : JPEM》2003,16(7):1057-1059
A female newborn with transient neonatal diabetes mellitus is presented. No apparent genetic anomaly was detected, and the diabetes mellitus resolved by day 47 of life. 相似文献
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Giralt Muiña P Sánchez Del Pozo J Anaya Barea F García Silva M Lledó Valera G Rosa García A 《Anales espa?oles de pediatría》2001,54(5):502-505
Neonatal diabetes mellitus is defined as hyperglycemia detected in the first month of life of more than 2 weeks' duration, requiring insulin treatment. It is extremely uncommon (1/500,000 neonates) and is permanent in only 30% of cases. Several hypotheses concerning its etiology have been postulated, such as pancreatic immaturity, paternal uniparental isidisomy of chromosome 6, and the existence of a gene located in the 6 q 22-23 chromosome region subjected to imprinting and exclusively of paternal expression. The management of these patients is usually difficult. These neonates are underweight for their gestational age, and neither anti-insulin antibodies nor anti-islets are detected. We studied a neonate hospitalized because of low weight for his gestational age with dimorphic features and hyperglycemia since the 17 th day of life. Clinical and anatomical follow-up has been periodically performed to the present date. The child presents permanent neonatal diabetes with negative antibodies. Although various insulin patterns have been used since the onset of the syndrome, management remains difficult. The child presents hypothyroidism, bilateral neurosensory deafness, bilateral congenital cataract, myopia, dimorphic features, congenital stridor and slow weight-stature curve. The results of muscle biopsy and metabolic studies were normal. Wolfram's syndrome and mitochondrial diabetes were ruled out. This is an exceptional case of permanent neonatal diabetes associated with other malformations corresponding to no known syndromic patterns. 相似文献
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A L Drash 《Pediatric annals》1983,12(9):629-30, 632-5
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Transient neonatal diabetes mellitus in half sisters 总被引:1,自引:0,他引:1