Generally, the disorder is more severe in males.
Initially, patients most often present only with persistent hematuria
(microhematuria with intermittent gross hematuria) starting in early
childhood and a positive family history for hematuria. Other renal features
include proteinuria, hypertension, and renal failure (occurs in >90% of
male patients but only 3% of female patients after age 25 years).
However, the typical histologic findings may not yet be present in young
children. End-stage renal failure, sensorineural, high-frequency hearing
loss (in >80% of males and >50% of females), and ophthalmic lesions
appear later in life (usually between age 20 and 40 years). Other features
may include hypoparathyroidism, thrombocytopenia, ichthyosis, and diffuse
leiomyomatosis. This diffuse leiomyomatosis is typical in a subgroup of
patients with the X-linked form of Alport syndrome, occurs in older
children, and affects the tracheobronchial system and the esophagus. The
condition in the former results in recurrent upper airway infections, cough,
stridor, and even dyspnea, but in the latter may lead to dysphagia and
vomiting. Bowel involvement with constipation has been reported. Genital
leiomyomatosis (vulva and clitoris) in girls has been described. Fatal
complications and extensive surgery (including esophagectomy) have been
described in patients with diffuse leiomyomatosis.