If a male is affected, his mother is heterozygous except in cases of de novo mutations. In X-linked Alport syndrome, men are typically more severely affected than women. ![]() Family history is also negative when X-linked Alport syndrome results from a new mutation, which is estimated to occur in 10-15% of cases, and may be vague in autosomal dominant disease. Because the autosomal dominant form has a milder and variable phenotype even within families, it is often not diagnosed or it may be misdiagnosed in routine practice.įamily history may be suggestive of Alport syndrome but is often negative, particularly in the index case of autosomal recessive disease, as both parents are usually asymptomatic carriers (although they may have microscopic hematuria on further investigation). More recently, with the advent of more widespread genetic testing using more advanced techniques, the autosomal dominant form has been recognized more often and may affect up to 20% of Alport syndrome families. Traditionally X-linked inheritance was reported for 80-85% of families with Alport syndrome and autosomal recessive inheritance for 10-15% autosomal dominant transmission was thought to be rare, occurring in only 1-5%. This scenario describes the most common form of Alport syndrome which is transmitted in an X-linked manner. ![]() Alport syndrome is a hereditary disease that in its most typical form is characterized by several males in a family having end-stage renal disease (ESRD) before the age of 30 years accompanied by worsening hearing loss and ocular abnormalities. ![]() This question arises when a boy from a family with Alport syndrome is found to have hematuria, either microscopic – detected on a routine urinalysis – or an episode of macroscopic hematuria.
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