Soliman A T, elZalabany M M, Bappal B, alSalmi I, de Silva V, Asfour M
Department of Pediatrics, Royal Hospital, Muscat, Oman.
Indian J Pediatr. 1999 May-Jun;66(3):363-73. doi: 10.1007/BF02845526.
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.
永久性新生儿糖尿病（PNIDDM）是1型糖尿病的一种罕见形式，其病因和发病机制尚不清楚。我们确定了阿曼苏丹国PNIDDM的发病率和患病率，并研究了其临床和生化特征。1989年1月至1994年12月研究期间的年平均发病率为每10万活产儿1.788±0.82例。截至1994年12月底，5岁以下儿童的患病率为每10万人2.4例。他们占该年龄组所有1型糖尿病病例的41.6%。腹泻、发热、嗜睡、喂养不良和发育迟缓是最常见的首发症状。脱水和呼吸急促是最常见的体征。所有在新生儿期患1型糖尿病的患者均有宫内生长迟缓，4.5%的患者出现糖尿病酮症酸中毒（血糖37±9 mmol/L，pH值7.12±0.1）。高甘油三酯血症是一个持续特征（19.4±4.8 mmol/L）。他们是近亲结婚的产物，其家庭成员中1型糖尿病和2型糖尿病的患病率显著较高。没有婴儿有先天性病毒感染的临床或免疫学证据。五个孩子中有三个携带糖尿病抵抗等位基因HLA-DR2。在所有研究婴儿中，高血糖代谢控制期间及之后均无C肽分泌，且在诊断时或诊断后第一年，无一例有循环胰岛细胞抗体。尽管出生时明显生长迟缓，但开始胰岛素治疗后生长有显著改善。5例患者中有4例发育里程碑正常，1例在严重且长期低血糖发作后有轻度发育迟缓。所有患者均无外分泌胰腺功能不全。总之，极高的父母近亲结婚率、男女均可发病且同一家庭中有两个兄弟姐妹患病、无胰岛细胞抗体以及五分之三的患者存在HLA-DR2基因座，提示PNIDDM是一种与儿童期标准1型糖尿病不同的疾病过程，且为常染色体隐性遗传模式。
