A Case of Complete Agenesis of Dorsal Pancreas and Right Kidney Associated with PDX-1 mutation: The first report in Korea

Program: Abstracts - Orals, Featured Poster Presentations, and Posters
Session: SAT 758-785-Diabetes Case Reports: Type 1, Type 2, MODY & Complications
Clinical
Saturday, June 15, 2013: 1:45 PM-3:45 PM
Expo Halls ABC (Moscone Center)

Poster Board SAT-775
Hyung-Woo Lee1, Jun Sung Moon*1, Ji Sung Yoon1, Byung Sam Park1, Eui-Hyun Kim2 and Kyu Chang Won1
1Yeungnam University College of Medicine, Daegu, South Korea, 2DAEGU FATIMA HOSPITAL
Background: Agenesis of the dorsal pancreas is a very rare congenital pancreatic anomaly and is known to be frequently associated with other anomalies. The Pancreatic and duodenal homeobox 1(PDX-1) is a homeodomain transcription factor required for pancreas development and for transcriptional regulation of endocrine pancreas-specific genes pancreatic beta cells such as insulin. Today, there are few cases of complete agenesis of dorsal pancreas with diabetes in Korea, but none of them identified PDX-1 mutation genetically. Here, we reported a case of complete agenesis of dorsal pancreas and right kidney with PDX-1 mutation.

Clinical case: A 30-year-old woman who newly diagnosed diabetes mellitus during treatment of viral meningitis admitted to our endocrinology department. In abdominal computed tomography (CT) performed due to her abdominal pain, the absence of pancreatic body and tail and right kidney were found incidentally. She had normal delivery history with full term and she didn’t have congenital anomaly and developmental delay in growing. She did not diagnosed any other chronic diseases and have medication. In her family of three generation, only her father had diabetes which were diagnosed at his middle ages. Her height was 160cm and weight was 42kg (BMI : 16.41 kg/m2) and vital sign was within normal limits at admission. In laboratory study, she had iron deficiency anemia but liver function test, electrolyte, BUN, creatinine, lipid profile, and urinalysis were within normal ranges. Her chest X-ray and electrocardiography were normal. Urine albumin-creatinine ratio was 5.80 mg/g and there was no evidence of diabetic retinopathy in fundus photography. Fasting serum glucose was 183 mg/dL and 2-hr postprandial serum glucose was 438 mg/dL. HbA1c was 14.8%. Insulin (fasting /2-hr postprandial) was 1.3 / 4.0 uU/mL (normal range : 4.0~24.0 uU/dL) and c-peptide (fasting / 2-hr postprandial) was 1.0 / 1.7 ng/mL (normal range : 1.1~4.4 ng/mL). Glucagon was 80.02 pg/mL (normal range : 59~177 pg/mL). In abdominal CT, pancreatic body, tail and right kidney were missing, but other abdominal solid organs were normally visible. In magnetic resonance cholangiopancreatography (MRCP), we could find only short main pancreatic duct in pancreatic head, but pancreatic duct of body and tail and Santorini duct was not visible. In genetic analysis, we found 4 point mutation of PDX-1 : 1894G>K, 1919G>S, 2026G>K, and 4163A>W.

Conclusion: Agenesis of complete dorsal pancreas and unilateral kidney is extremely rare, and this is first report associated mutation of PDX-1 in Korea. Although we can`t diagnose this patient as MODY4 definitely, late-onset DM of this patient is caused by PDX-1 mutation. If complete agenesis of dorsal pancreas is found, work-up that is related with other organ`s malformation and gene mutation have to be needed.

(1)  W. J. Schnedl et al.,  Dig Dis Sci. 2009;54(3):481

Nothing to Disclose: HWL, JSM, JSY, BSP, EHK, KCW

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