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Renal failure in two patients with Wolfram syndrome
A Sumboonnanonda1, A Vongjirad, V Suntornpoch
1Department of Pediatrics, Faculty of Medicine, Siriraj Hospital, Mahidol University, Bangkok 10700, Thailand.
Journal of Pediatric Endocrinology & Metabolism : JPEM
|February 19, 1998
Summary
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.