Symptoms Of Alagille Syndrome

Impaired Kidney Function

Patients with Alagille syndrome have impaired kidney function because of NOTCH2 gene mutations. The individual may have really abnormally small-sized kidneys, kidney cysts, and impaired or decreased kidney function. Occult renal artery stenosis, glomerulosclerosis, or lipoid nephrosis can occur with symptoms and signs of chronic hypertension. It has been suggested that JAG1 and NOTCH2 play a role in proximal nephron podocytes. These structures contribute to the phenotypes of proteinuria, and renal dysplasia in Alagille syndrome. JAG1 in the collecting ducts can cause renal tubular acidosis.