Role of Pediatric Nephrologist in Williams Syndrome: care from childhood to adulthood

Williams syndrome is a relatively rare genetic disorder caused by the deletion of a segment of DNA on chromosome 7q11.23, which encodes the protein elastin. It is characterized by a distinctive clinical phenotype, with key features including cardiovascular abnormalities, facial features and intellectual disability, along with associated endocrine, urological and gastrointestinal manifestations. This retrospective observational study evaluates 68 individuals (15 children and 53 adults) diagnosed with Williams syndrome who are under follow-up at our center. The objectives of this study are to analyze the clinical manifestations, examine the natural history of the disease with potential differences between pediatric and adult presentations, and underscore the role of pediatric nephrology in the multidisciplinary management of these patients. Renal involvement was assessed based on the presence or absence of arterial hypertension, hypercalcemia, hypercalciuria, nephrocardiosis, urinary tract abnormalities, glomerular renal function, and symptoms such as enuresis. The rates of kidney involvement were generally similar between the two age groups in our sample, with the exception of hypertension, which affected nearly half of the children but only about 20% of adults. This study emphasizes the importance of including pediatric nephrologists as key members of the multidisciplinary team managing patients with Williams syndrome.