![]() ![]() The rate of progression to renal disease is fairly constant among affected males within a particular family, with ESRD developing in virtually all affected males with XLAS usually between the ages of 16 and 35, although significant intrakindred variability has occasionally been reported. Like proteinuria, hypertension is much more likely to occur in affected males than in affected females in the X-linked form of the disease, but there do not seem to be gender differences in the autosomal recessive form. Hypertension also increases in incidence and severity with age. Significant proteinuria is relatively infrequent in females who are heterozygous for XLAS, but it may occur. Proteinuria increases progressively with age and may culminate in the nephrotic syndrome. Proteinuria is usually absent during the first few years of life but develops eventually in males with XLAS and in both males and females with recessive disease. Hematuria seems to be persistent in both male and female patients with ARAS. 135 Female patients who are heterozygous for XLAS may have intermittent hematuria, and as many as 10% of obligate female heterozygotes never manifest hematuria. Males without hematuria by the age of 10 years are unlikely to have hereditary nephritis. Many also have episodic gross hematuria, precipitated by upper respiratory infections, during the first 2 decades of life. ![]() Persistent microhematuria is a constant feature and is present from early in life in boys, but may not be diagnosed until adulthood unless the patient is screened because of an affected family member. The initial renal manifestation of Alport syndrome is asymptomatic microhematuria. Sai Ram Keithi-Reddy, Raghu Kalluri, in Molecular and Genetic Basis of Renal Disease, 2008 Renal Involvement ![]()
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