Renal failure in two patients with Wolfram syndrome
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Published on: June 20, 2018
A Sumboonnanonda1, A Vongjirad, V Suntornpoch
1Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Insights
This study details a Thai family with Wolfram syndrome, highlighting rapid, severe diabetic nephropathy as a cause of renal failure in affected children. Regular kidney function evaluation is crucial for these patients.
Area of Science:
- Genetics and rare diseases
- Endocrinology
- Nephrology
Background:
- Wolfram syndrome is a rare genetic disorder.
- Characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
- Urinary tract dilatation is also a common feature.
Observation:
- A Thai family with three children, two diagnosed with Wolfram syndrome.
- Affected siblings presented with early-onset insulin-dependent diabetes mellitus, renal impairment, proteinuria, and hypertension.
- Clinical manifestations included bilateral sensorineural hearing loss, optic atrophy, and cataracts.
Findings:
- Both affected siblings exhibited urinary tract dilatation and kidney biopsies consistent with diabetic nephropathy.
- Severe renal impairment was noted, with creatinine clearance of 16 ml/min/1.73 m2 at 16 years and 25 ml/min/1.73 m2 at 13 years.
- Both patients were HLA DR2 positive.
Implications:
- Emphasizes the critical need for regular renal function monitoring in Wolfram syndrome patients.
- Suggests rapid and severe diabetic nephropathy as a primary cause of renal failure in this condition.
- Highlights the importance of early detection and management of renal complications in Wolfram syndrome.
Abstract:
We describe a Thai family with three children, two of whom presented with Wolfram syndrome, which is a rare syndrome characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness and urinary tract dilatation. A girl and her younger brother had insulin-dependent diabetes mellitus at 11 years old with early onset of renal impairment, proteinuria and hypertension. Urinary tract dilatation was demonstrated in both patients. Kidney biopsies were compatible with diabetic nephropathy. Both children also had bilateral sensorineural hearing loss. Optic atrophy with severe loss of vision was detected in the girl and bilateral cataract in her brother. Both patients were HLA DR2 positive. At 16 years old, her creatinine clearance was 16 ml/min/1.73 m2. Her brother's creatinine clearance was 25 ml/min/1.73 m2 at 13 years old. We conclude that renal function should be evaluated in patients with Wolfram syndrome and the cause of renal failure in these patients may be rapid and severe diabetic nephropathy.
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