This is a 25-year-old patient, born in Ukraine, diagnosed with diabetes secondary to agenesis for 5 years, who was admitted to the Emergency Department due to a non-admission hyperglucemic pancreatic insufficiency.
Since diagnosis, the patient has had an acceptable metabolic control with HbA1c less than 7% with dietary treatment and exercise.
Family history included a diabetic great-grandfather and parents and healthy siblings.
In the anamnesis, upon admission, the patient reported poor metabolic control for two months, persistent candidiasis with the onset of frequent episodes of urinary infections, and lately aggravated by severe polyvovaginal candidiasis and paronychia in 6.4 kg.
Physical examination revealed: height 167 cm; weight 38.6 kg; BMI 13.4 kg/m2; TA 120 mmHg; HR 116 bpm; saturation 97%.
Mandible in a lamp.
Thyroid grade 0.
CA and PA were normal.
The abdomen was blunt and depressible, painless, with no masses or enlargement.
The lower limbs had no edema and preserved peripheral pulses.
Vibratory viability, with monofilament and preserved osteotendinous reflexes.
Erythematous and pruritic candidiasis in the vulvar and perianal region suggestive of
Paronychia in fourth finger right hand.
Diabetic extensive disease affecting the extremities.
Complementary tests: Normal blood count, ESR 35 mm/h, glucose 552 mg/dL, Cr 0.8 mg/mL, total cholesterol 205 mg/dL, LDL-C 125 mg/dL, HDL-C 58 mg/dL.
Normal hepatic profile except for GOT 54 IU (7-32), GPT 63 IU (5-31) and GGT 59 (7-32).
Albumin/creatinine ratio: 0.6μg/mgr.
Urine glucose 5567 mg/dL
Methylketone in urine 50 mg/dL
HbA1c 16.2%.
Baseline C-peptide was 166 pmol/L (298-2350).
GAD antibodies 0.2 KU/L (0-0.9), anti-IA2 0.2 KU/L (0-1) and anti-insulin (IAA) 77.2 nU/mL (N<40).
IgA antitransglutaminase antibodies 0.82 KU/L (0-10).
Anti-TG antibodies 149 (degree) and anti-TPO 13.3 (0-35).
TSH 3.1
Gynaecological condition: bicornuate uterus.
Eye fundus examination was normal.
Pancreatic dorsal agenesis.
Abdominal ultrasound: multiple cortical cysts smaller than 1 cm in the left kidney diffused throughout the left renal parenchyma without evidence of dilatation of the foot-located system or other findings.
Normal right kidney.
Absence of pancreatic body and tail.
Panadizo exudate culture grew Klebsiella isolation and vulvovaginal culture was positive for Candida.
With the suspicion of MODY type diabetes, a genetic study was requested by fluorescent semiquantitative PCR, detecting a heterozygous deletion of at least the exons 1 to 8 of the HNF1 β gene.
Treatment was started with insulin glargine and insulin aspart 1.3 U/kg. Fluconazole was administered orally 100 mg/day (10 days) and a vaginal ovum in a single dose of clotrimazole 400 mg, disappearing.
In subsequent controls HbA1c levels below 6% were detected, with progressive insulin decrease up to 0.5 U/kg at 6 months of admission.
At eight months the diabetic dermopathy disappeared and 18 months after admission, the patient recovered her initial weight and insulin requirements were maintained at 0.5 U/kg. Microalbuminuria remained within normal limits.
Only keeps a slight increase in transaminases.
