This autosomal recessive disease is caused by mutations in the PKHD1 gene and affects mainly the kidneys, but other organs can be also affected (e. g. liver). Present cysts interfere with kidneys proper function. It is often associated with enlarged kidneys, hypertension, or hematuria. Typically, the disease is manifested before birth or in childhood, however, recessive form of this disease is quite rare in comparison to the autosomal dominant form.
Understanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation
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Continue to ShopUnderstanding your genetic makeup can provide valuable insight into your health and potential risks for your offspring. Results in this category describe whether you’re a carrier of rare diseases. These are very unlikely to affect you but being a carrier of a rare disease can pose a risk for your children, when both you and your partner are carriers. This knowledge can help you make informed decisions about your future, and potentially reduce the risk of passing on genetic conditions to the next generation
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