Endocrine Abstracts

Wolfram syndrome, rare neurodegenerative disorder, is known to be DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy and deafness). There are rare case reports of Wolfram syndrome with chronic renal failure in the literature.

A 19-year-old male patient was admitted to our pediatric emergency department because of headache, chest pain and diurnal and nocturnal enuresis. He had been diagnosed with diabetes mellitus at 13 years of age (Plasma glucose was 386 mg/dl, urinary ketone negative, normal blood gases, serum C-peptide level 0.1 pmol/ml (0.15–1.10) and HbA1c value of as 9.6%) and had received four doses of regular insulin (0.9 U/kg per day) treatment. Anti-insulin antibody was 3 U (0–8 U), anti-GAD 0.4 U/ml (<1 U/ml), and islet cell antibody negative at the diagnosis. In addition, fundus oculi examination had demonstrated bilateral optic atrophy and no sign of diabetic retinopathy at 13 years of age. He was the sixth child of apparently healthy consanguineous parents, born at full-term by normal vaginal delivery. Family history disclosed that his uncle, aunt and sister had diabetes mellitus. Physical examination: weight: 31 kg (<3 percentile), height: 136.5 cm (<3 percentile), blood pressure: 160/80 mmHg and pulse rate 96/dk. He had bilateral blindness. High renal function tests (BUN:78 mg/dl, creatinine: 4.7 mg/dl), serum electrolytes (Na: 133.7 mmol/l, K: 4.2 mmol/l, Cl: 103.7 mmol/l, serum calcium: 8.4 mg/dl serum phosphorus: 8 mg/dl) and high parathyroid hormone (PTH: 321.63 pg/ml range, 15 to 65) suggested chronic renal failure. Urinary ultrasound imaging disclosed small kidney size. Glomerular filtration rate was calculated as 13 ml/min/1.73 m². Audiometric examination for Wolfram syndrome revealed bilateral sensorineural hearing loss. A known homozygous mutation (Y508fsX541, c.1523_1524delAT) in exon 8 of WFS1 was found in the proband.

We reported a case with Wolfram syndrome accompanied by chronic renal failure. Early diagnosis and appropriate management for Wolfram syndrome would prevent development of complications.