PDF(Pubmed)
Abstract：
UNASSIGNED: 1. To study the clinical outcome, growth and glycaemic control, 2. To study the frequency and type of genetic mutations.
UNASSIGNED: This is a retrospective study with a review of data of medical records from 2008 till date.
UNASSIGNED: Twelve patients (six males) with neonatal diabetes mellitus (NDM) were identified. Median (interquartile range - (IQR)) age at diagnosis was 72 (31-95) days with a history of consanguinity in 75%. The median birth weight (range) was 2345 (900-3300) g. Follow-up data were available for eight patients with a median age at (IQR) follow-up of 3.3 (3-5.3) years. At follow-up, the mean annual HbA1c was 8.2% at a mean insulin dose of 1.1 U/kg/d. One patient with Wolcott-Rallison syndrome (WRS) and 21α-hydroxylase deficiency had poor growth and intellectual difficulty. The rest demonstrated satisfactory growth with an increase of mean weight centile from 2nd to 13th, height centile from 6.5th to 20th and normal neuro-cognitive development. Eleven patients underwent genetic testing with a molecular diagnosis in 54% (6/11): EIF2AK3 (n = 2) and one each in INS, PDX1, IL2RA and FOXP3. None had variants in ABCC8 or KCNJ11. One with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome underwent haematopoietic stem cell transplant (HSCT) and later succumbed.
UNASSIGNED: Our study demonstrates good clinical outcomes among NDM patients without immune dysfunction. Molecular diagnosis was attained only in around half of the patients (54%) with a great genetic heterogeneity.
UNASSIGNED: This is a retrospective study with a review of data of medical records from 2008 till date.
UNASSIGNED: Twelve patients (six males) with neonatal diabetes mellitus (NDM) were identified. Median (interquartile range - (IQR)) age at diagnosis was 72 (31-95) days with a history of consanguinity in 75%. The median birth weight (range) was 2345 (900-3300) g. Follow-up data were available for eight patients with a median age at (IQR) follow-up of 3.3 (3-5.3) years. At follow-up, the mean annual HbA1c was 8.2% at a mean insulin dose of 1.1 U/kg/d. One patient with Wolcott-Rallison syndrome (WRS) and 21α-hydroxylase deficiency had poor growth and intellectual difficulty. The rest demonstrated satisfactory growth with an increase of mean weight centile from 2nd to 13th, height centile from 6.5th to 20th and normal neuro-cognitive development. Eleven patients underwent genetic testing with a molecular diagnosis in 54% (6/11): EIF2AK3 (n = 2) and one each in INS, PDX1, IL2RA and FOXP3. None had variants in ABCC8 or KCNJ11. One with immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome underwent haematopoietic stem cell transplant (HSCT) and later succumbed.
UNASSIGNED: Our study demonstrates good clinical outcomes among NDM patients without immune dysfunction. Molecular diagnosis was attained only in around half of the patients (54%) with a great genetic heterogeneity.
摘要：
■1.为了研究临床结果，生长和血糖控制，2.研究基因突变的频率和类型。
■这是一项回顾性研究，回顾了2008年至今的病历数据。
■确定了12例（6例男性）患有新生儿糖尿病（NDM）的患者。诊断时的中位年龄（四分位距-（IQR））为72（31-95）天，有75％的血缘关系史。中位出生体重（范围）为2345（900-3300）g。随访数据适用于8名患者，中位年龄（IQR）随访3.3（3-5.3）年。在后续行动中,在平均胰岛素剂量为1.1U/kg/d时,年平均HbA1c为8.2%.一名患有Wolcott-Rallison综合征（WRS）和21α-羟化酶缺乏症的患者生长不良和智力困难。其余的表现出令人满意的增长，平均体重百分位数从第2增加到第13，身高百分位数从6.5岁到20岁，神经认知发育正常。11例患者接受了基因检测，分子诊断为54％（6/11）：EIF2AK3（n=2）和INS各1例，PDX1、IL2RA和FOXP3。ABCC8或KCNJ11均无变异。一个有免疫失调的人，多内分泌病,肠病,X连锁（IPEX）综合征接受了造血干细胞移植（HSCT），后来死亡。
■我们的研究表明，无免疫功能障碍的NDM患者具有良好的临床疗效。只有大约一半的遗传异质性患者（54％）获得了分子诊断。
■这是一项回顾性研究，回顾了2008年至今的病历数据。
■确定了12例（6例男性）患有新生儿糖尿病（NDM）的患者。诊断时的中位年龄（四分位距-（IQR））为72（31-95）天，有75％的血缘关系史。中位出生体重（范围）为2345（900-3300）g。随访数据适用于8名患者，中位年龄（IQR）随访3.3（3-5.3）年。在后续行动中,在平均胰岛素剂量为1.1U/kg/d时,年平均HbA1c为8.2%.一名患有Wolcott-Rallison综合征（WRS）和21α-羟化酶缺乏症的患者生长不良和智力困难。其余的表现出令人满意的增长，平均体重百分位数从第2增加到第13，身高百分位数从6.5岁到20岁，神经认知发育正常。11例患者接受了基因检测，分子诊断为54％（6/11）：EIF2AK3（n=2）和INS各1例，PDX1、IL2RA和FOXP3。ABCC8或KCNJ11均无变异。一个有免疫失调的人，多内分泌病,肠病,X连锁（IPEX）综合征接受了造血干细胞移植（HSCT），后来死亡。
■我们的研究表明，无免疫功能障碍的NDM患者具有良好的临床疗效。只有大约一半的遗传异质性患者（54％）获得了分子诊断。
