Assessment of Renal Changes in Bardet-Biedl Syndrome with Particular Emphasis on Kidney Size, Function, and Blood...

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous ciliopathy characterized by obesity, retinal dystrophy, cognitive impairment, hypogonadism, and congenital renal anomalies, which represent a leading cause of morbidity and mortality in affected patients.

We followed four patients with BBS (three boys, one girl) from birth to ten years of age. In all children, we assessed physical development, laboratory tests, including assessment of renal function, renal ultrasound examination, and blood pressure control.

Patients (three males) with Bardet-Biedl syndrome, demonstrated prenatal and postnatal evidence of structural and functional renal abnormalities, including kidney injury and bilateral renal dysplasia. Neonatal serum creatinine ranged from 0.70 to 1.66 mg/dL, with persistently abnormal renal morphology on follow-up imaging and variable but overall stable renal function (latest creatinine 0.68-1.03 mg/dL). Arterial hypertension occurred in one male and one female patient and was effectively controlled with angiotensin-converting enzyme inhibitor therapy. All patients exhibited multisystem involvement characteristic of ciliopathy, including polydactyly, obesity, ophthalmologic abnormalities, neurodevelopmental impairment, and hypogonadism in three of four individuals.

The broad spectrum of renal manifestations in BBS underscoring the importance of early diagnosis and individualized nephrological monitoring.