Prospective Evaluation of Kidney Disease in Joubert Syndrome

Abstract

Kidney disease occurs in up to one third of patients with Joubert syndrome, most commonly in those with mutations in <i>CEP290</i>, <i>TMEM67</i>, and <i>AHI1</i>. Patients with mutations in <i>C5orf42</i> or <i>KIAA0586</i> are less likely to develop kidney disease. Prenatal ultrasonography is a poor predictor of kidney involvement in Joubert syndrome. Unilateral multicystic dysplastic kidney and autosomal recessive polycystic kidney disease-like enlarged kidneys with early-onset hypertension can be part of the Joubert syndrome kidney phenotype.