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Renal insufficiency in Williams syndrome
L G Biesecker1, R Laxova, A Friedman
1Department of Pediatrics, University of Wisconsin Hospital and Clinics, Madison.
American Journal of Medical Genetics
|September 1, 1987
Summary
Williams syndrome patients may experience kidney problems like renal cystic dysplasia, leading to dehydration. Regular kidney screening is recommended for early detection and management in these individuals.
Area of Science:
- Nephrology
- Genetics
- Pediatrics
Background:
- Williams syndrome is a rare genetic disorder.
- Renal abnormalities are known but often underreported complications.
Observation:
- A 19-year-old male with Williams syndrome presented with renal cystic dysplasia.
- He experienced progressive decline in kidney function and dehydration due to impaired urine concentrating ability.
Findings:
- Literature review confirms renal dysfunction in Williams syndrome.
- This specific complication (concentrating defect) is not sufficiently emphasized.
Implications:
- Periodic renal ultrasound and function tests are crucial for Williams syndrome patients.
- Early detection can prevent severe complications like dehydration and renal failure.
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