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Abstract(Please copy/paste the abstract send to the congress) : |
Introduction: Activating mutation of potassium inwardly-rectifying channel
J, member 11 (KCNJ11) that encodes Kir6.2 has been associated with permanent
neonatal diabetes mellitus (PNDM).
Objective: Here two infants with mutation in this gene are presented who
responded to two types of sulfonylurea therapy.
Method: The patients genomic DNA was isolated from peripheral blood leukocytes
using the salting-out method [PCR amplification followed by direct
sequencing (Genbank NM000525.3)]. Self-monitoring of blood glucose (BG)
was done before and 2 hours after milk or foods. IBM SPSS 19 was used for
analysis.
Case studies:
Case 1 was a 50 day old girl with poor feeding and fever since 5 days before
entry. Physical examination (PE): 10% dehydration, lethargy, weight (W):3.7
kg, height (H):52 Cm. respiratory rate (RR):69/min, temperature (T):39.4°C.
Lab. tests: BG, 750 mg/dL; blood pH, 6.88; HCO3, < 3 mEq/L; keton, +2;
serum Na, 162 mEq/L; insulin, 0.5 μIU/mL.
Case 2 was a 3.5-month old girl with polyuria, fever and vomiting since10
days before. PE: dehydration, lethargy, RR:45, W:5 kg, H:58 Cm. Lab. Tests:
BG, 500 mg/dL; blood pH, 6.98; HCO3, < 3.9 mEq/L; keton,+2; serum Na,
144 mEq/L; insulin, 0.63 μIU/mL. After treatment of ketoacidosis, insulin
therapy gradually changed to Glibenclamide (0.4 mg/kg/day divided to 3)
in both cases, but due to occurrence of hypo and hyperglycemia in case 2, it
was changed to repaglinide (0.046mg/kg/day divided to 8 times, before every
milk). Genetic study revealed R201H mutation (Arginine to histidine) in
KCNJ11 gene in both of them.
Last visit:
Case 1: age, 23 months; W:13.7 (50% of CDC2000 curves), H:86 Cm (50%),
mean ± SD of blood glucose (MBG):129.5 ± 34.5; HbA1C: 3.9%.
Case 2: age, 10 months; W:8 kg, H:69 Cm (both10-25%); MBG:122.59 ±
19.6, HbA1C:4.8%. There was no significant difference between MBG in 2
cases (P>0.05).
Conclusion: Every infant with PNDM may have a genetic mutation that responds
to sulfonylurea treatment. |
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Keywords of your Abstract : |
Glibenclamide, repaglinide, therapy, permanent neonatal diabetes,diabetic ketoacidosis, mutation
in KCNJ11 gene |