Paula and Bobby
Parents of Lillie
What is Alport-like syndrome?
Alport-like syndrome is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Alport syndrome is often used as an eponym for a variety of hereditary nephritides. Heterogeneity is suggested by the strong association with deafness in some families but not in others. The renal lesion in males consists of a progressive degeneration of the glomerular capillary basement membrane, which in the early stages presents as a chronic glomerulo-nephritis with haematuria, and usually ends in renal failure in a large proportion of affected individuals. Microscopic haematuria is detectable in 80-90% of obligate female carriers. Setala et al., (1989) reported a mother and son with apparent Alport syndrome together with macular degeneration, clinically resembling cone dystrophy. There may be a separate, autosomal dominant, 'Alport-like' syndrome associated with cataracts, and leiomyomatosis of the oesophagus and other organs (eg: the female genital tract) - see Legius et al., (1990) for a review. Leichter et al., (1988) have reported a separate association with achalasia.
Davies (1970) published a family of so called Alport's syndrome with male to male transmission. The renal findings were said to be typical and deafness was a feature. The irides were atrophic, anterior lenticonus was a feature and in the retina there were numerous small aggregations of pigment. The ERG showed an absent b-wave suggestive of a tapeto-retinal degeneration.
* This information is courtesy of the L M D.
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What gene changes cause Alport-like syndrome?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Alport-like syndrome?
The typical symptoms of the syndrome are:
How does someone get tested for Alport-like syndrome?
The initial testing for Alport-like syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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