Alport syndrome

Information should be provided to patients about the variable course and disease manifestations of Alport syndrome, and the importance of early detection and modification of risk factors such as hypertension and proteinuria that influence that rate of progression to renal failure. This information can also be passed on to other family members who may wish to consider screening and genetic counselling. Alport Syndrome Foundation Opens in new window

It is generally appropriate to describe to the patient the following complications, including information about monitoring and risk reduction where relevant: haematuria, proteinuria, nephrotic syndrome, hypertension, progression to renal failure, hearing loss, and eye complications.

Certain children, young adults, and adults should be encouraged to learn about the significance of systolic and diastolic BP readings and how to take their own BP. Target BP should be emphasised. Dietary advice should be given: 0.8 g/kg protein of ideal body weight per day; for patients with hypertension or hyper-cholesterolaemia, sodium restriction of 90 mEq per day, and low cholesterol intake (<200 mg/day) are advised.

Patients and their relatives should be offered genetic counselling to inform them of all reproductive choices, as well as family screening. Some families may proceed to antenatal diagnosis if molecular characterisation of the family has been carried out. This is usually offered by chorionic villous sampling (CVS) between 11 and 12 weeks' gestation. Pre-implantation genetic diagnosis may also be offered. In X-linked Alport syndrome, fetal sexing may also be offered at about 8 weeks' gestation using maternal cell free DNA-plasma screening. CVS is then offered only if the fetus is male. The risks to both sexes are equal in autosomal-recessive Alport syndrome. GeneTests Opens in new window