genitourinary disorders
Alport Syndrome
Symptoms and Signs of Alport Syndrome
Classic X-linked disease in males and autosomal recessive disease are clinically similar. Patients develop renal symptoms and signs similar to those of acute nephritic syndrome (eg, microscopic hematuria, hypertension, eventually gross hematuria with proteinuria) and progress to renal insufficiency between ages 20 and 30 (juvenile forms). Sensorineural hearing loss frequently is present, affecting higher frequencies; it may not be noticed during early childhood. Ophthalmologic abnormalities—cataracts (most common), anterior lenticonus (a regular conical protrusion on the anterior aspect of the lens due to thinning of the lens capsule), spherophakia (spherical lens deformation that can predispose to lens subluxation), nystagmus, retinitis pigmentosa, blindness—also occur but less frequently than hearing loss. X-linked disease occurs in heterozygous women, who, because they have one normal X chromosome, usually have less severe, more slowly progressing symptoms than men. Some men with X-linked disease develop renal insufficiency after age 30 with hearing loss that occurs late or is mild, and autosomal dominant disease typically does not cause renal failure until age≥45 years (adult forms). In some patients with X-linked disease, sensorineural hearing loss usually manifests in childhood, whereas renal disease often does not manifest until adulthood. Other nonrenal manifestations rarely include Polyneuropathy and 