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Winfried Schmidt DOI: 10.3252/pso.eu.18ECE.2016 Diabetes (to include epidemiology, pathophysiology) A case report of a 38-year old male African patient born in Nigeria with co-inheritance of PAX4 and BLK mutations (MODY 7 and 9) as a cause of ketosis prone diabetes is presented. The patient was hospitalized 2013 as an emergency with metabolic acidosis, partial respiratory compensation with hypocapnia and initial renal failure. Under intensive medical therapy (insulin) the metabolic situation could be normalized. MODY genes type 1-11 were analyzed by DNA-sequencing and MLPA analysis. No familial cases of diabetes are known. Further family members were not available for mutation analysis. Dec 2014 the patient moved to southern Germany. Clinical Data before ketosis: IV/2012 I/2013 Weight loss of 15 kg in the two month before admission, reduction of the general condition, thrush of the oral cavity Clinical Data and Laboratory measurement at admission: I/2013 Weight: 81.1kg, BMI: 28,4 kg/m2, HbA1C: >14%, Autoantibodies negative: GAD < 0,1; IA2 < 0,10, Fasting Blood Glucose: 5.8 mmol/l (105mg/dl), Ketones: negative, Blood pressure: 100/70 mmHg, Chol: 135, HDL: 36, LDL: 70, TC: 142, Creatinine: 1,10; Monofilament: 3/3 Clinical Data and treatment after remission : II/2013 IV/2014 Jan 2013 – Dec 2014 total insulin dose per day: 38 IU; Feb 2014 Weight: 98.4kg; April 2014 Weight: 91.0kg; II/2013 HbA1C: 6,4%; III/2013 HbA1C: 6,2%; IV/2013 HbA1C: 7,0%; Dec 2014 C-Peptid 1,95 and Fasting Blood Glucose 7 mmol/L (126 mg/dl). Co-inheritance of PAX4 and BLK Mutations (MODY 7 and 9) in an 38 Year old African Patient with Ketosis-Prone Diabetes

Co-inheritance of PAX4 and BLK Mutations (MODY 7 and 9) in an 38-year-old African patient with ketosis-prone diabetes