Taha Doris, Bardise Jawaher, Hegab Alaa, Bonnefond Amélie, Marchand Marion, Drunat Severine, Vaxillaire Martine, Polak Michel
Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre - Jeddah, Jeddah, Saudi Arabia.
Pediatr Diabetes. 2008 Jun;9(3 Pt 1):240-4. doi: 10.1111/j.1399-5448.2007.00365.x.
Pancreatic agenesis is a rare cause of neonatal diabetes mellitus (NDM). It can be associated with malformations of the heart, the biliary tract, and the cerebellum. We report an infant with NDM because of pancreatic agenesis, intra-uterine growth retardation, dysmorphic features, and recurrent bacterial infections. He was born to healthy consanguineous parents. With adequate replacement of insulin and pancreatic enzymes, his blood glucose levels were controlled and his weight slowly increased. However, he continued to develop recurrent serious bacterial infections and died at the age of 11 months with sepsis and respiratory failure. Analysis of the PTF1A and PDX1 genes, which have been associated with congenital agenesis of the pancreas, did not reveal any mutation. Genetic abnormalities of chromosome 6 associated with transient neonatal diabetes as well as mutations in the KCNJ11 and ABCC8 genes encoding the pancreatic potassium channel were also excluded as a cause of the NDM in this patient. The association of permanent neonatal diabetes because of pancreatic agenesis, dysmorphism, and non-specific immunodeficiency is previously undescribed and may represent a new possibly autosomal recessive syndrome.
胰腺发育不全是新生儿糖尿病（NDM）的罕见病因。它可能与心脏、胆道和小脑的畸形有关。我们报告一例因胰腺发育不全、宫内生长迟缓、畸形特征和反复细菌感染而患NDM的婴儿。他的父母健康且有血缘关系。通过充分补充胰岛素和胰酶，他的血糖水平得到控制，体重缓慢增加。然而，他继续发生反复严重的细菌感染，并在11个月大时死于败血症和呼吸衰竭。对与胰腺先天性发育不全相关的PTF1A和PDX1基因进行分析，未发现任何突变。与短暂性新生儿糖尿病相关的6号染色体基因异常以及编码胰腺钾通道的KCNJ11和ABCC8基因的突变也被排除为本例NDM的病因。因胰腺发育不全、畸形和非特异性免疫缺陷导致的永久性新生儿糖尿病之间的关联此前未被描述，可能代表一种新的可能为常染色体隐性的综合征。
