Hassan Samar S, Musa Salwa A, De Franco Elisa, Donis Frew Russel, Babiker Omer O, Mohamadsalih Ghassan F, Ibrahim Areej A, Abu Samra Samar, Abdullah Mohamed A
Department of Pediatric Endocrine and Diabetes, Gaafar Ibn Auf Pediatric Tertiary Hospital, Khartoum, Sudan.
Sudan Childhood Diabetes Center, Khartoum, Sudan.
Pediatr Diabetes. 2024 Feb 15;2024:2032425. doi: 10.1155/2024/2032425. eCollection 2024.
Neonatal diabetes (ND) is a rare subtype of diabetes occurring in the first 6 months of life. High incidence has been reported among populations with high rates of consanguineous marriage. However, there is paucity of reported data from sub-Saharan African countries. We report the incidence, genotype, and phenotype of ND in a large cohort from Sudan and compare these findings to regional and international data. All infants with onset of diabetes in the first 6 months of life, attending one of the only two tertiary pediatric diabetes centers in Sudan, Gaafar Ibn Auf Pediatric Tertiary Hospital and Sudan Childhood Diabetes Center, during the period of January 2006 to December 2022 were included. Medical records were reviewed for demographic and clinical information. Genetic testing was performed for 48 patients by the Exeter Genomics laboratory in the UK and for one patient by the University of Cambridge, Metabolic Research Laboratories, UK. The estimated incidence was 4.8 per 100,000 live births. Forty-nine ND patients from 45 unrelated families were identified, and a genetic diagnosis was confirmed in 37 patients (75.5%) from 33 unrelated families. Consanguinity was reported in 34 families (75.6%). The commonest genetic cause for permanent neonatal diabetes was recessive variants causing Wolcott-Rallison syndrome (18.92%). Pathogenic variants in two recently identified genes, and , were found in three patients each (8.11%). Activating variants in and were identified in four (10.81%) and two (5.41%) patients, respectively. Apart from hyperglycemia, the commonest clinical presentations included dehydration, failure to thrive, and diabetic ketoacidosis. ND in Sudan has a different pattern of etiologies compared to Western and Asian populations yet similar to some Arab countries with mutations being the commonest cause. Pathogenic variants in recently identified genes reflect the impact of genome sequencing on increasing the rate of genetic diagnosis.
新生儿糖尿病（ND）是一种罕见的糖尿病亚型，发生于出生后的前6个月。据报道，在近亲结婚率高的人群中发病率较高。然而，撒哈拉以南非洲国家的报告数据较少。我们报告了苏丹一个大型队列中ND的发病率、基因型和表型，并将这些结果与区域和国际数据进行比较。纳入了2006年1月至2022年12月期间在苏丹仅有的两家三级儿科糖尿病中心之一——加法尔·伊本·奥夫儿科三级医院和苏丹儿童糖尿病中心就诊的所有在出生后前6个月发病的糖尿病婴儿。查阅医疗记录以获取人口统计学和临床信息。英国埃克塞特基因组学实验室对48例患者进行了基因检测，英国剑桥大学代谢研究实验室对1例患者进行了基因检测。估计发病率为每10万活产4.8例。确定了来自45个非相关家庭的49例ND患者，33个非相关家庭的37例患者（75.5%）确诊了基因诊断。34个家庭（75.6%）报告有近亲结婚。永久性新生儿糖尿病最常见的遗传原因是导致沃尔科特 - 拉利森综合征的隐性变异（18.92%）。在最近发现的两个基因和中，分别有3例患者（8.11%）发现了致病变异。分别在4例（10.81%）和2例（5.41%）患者中鉴定出和的激活变异。除高血糖外，最常见的临床表现包括脱水、生长发育迟缓及糖尿病酮症酸中毒。与西方和亚洲人群相比，苏丹的ND病因模式不同，但与一些阿拉伯国家相似，突变是最常见的原因。最近发现的基因中的致病变异反映了基因组测序对提高基因诊断率的影响。
