Nakao Atsushi, Takeda Tomohiro, Hisaeda Yoshiya, Hirota Atsushi, Amagata Syusuke, Sakurai Yuko, Kawakami Tadashi
Department of Neonatology, Japanese Red Cross Medical Center, Tokyo, Japan.
AJP Rep. 2013 Oct;3(2):119-22. doi: 10.1055/s-0033-1353388. Epub 2013 Aug 14.
Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.
胰腺发育不全是一种罕见疾病，可导致新生儿糖尿病和外分泌性胰腺功能不全。我们报告了一例极低出生体重儿，患有先天性膈疝和先天性心脏病（室间隔缺损和动脉导管未闭）。尽管对呼吸和心力衰竭进行了妥善管理，但患儿体重仍未增加，通过皮下注射胰岛素、给予胰酶以及采用富含中链甘油三酯的配方奶进行营养支持后，体重增加情况得到改善。这是首例同时患有这两种畸形且已出院的胰腺发育不全病例。早期诊断和采取适当治疗措施以补偿胰腺功能，可能会降低死亡率并促进生长。
