Chapter 2 - Testing Pathway
An underlying genetic kidney disease should be considered where the acute cause of persistent or recurrent kidney or urinary symptoms have been excluded; or where abnormal urinalysis or a prenatal change on imaging has been identified.
Other patient characteristics suggestive of an underlying genetic cause include a known family history of kidney disease or consanguinity amongst family members, which is why a detailed family history and pedigree should be routinely included as part of a medical history. Where other family members with kidney disease or symptoms have been identified, understanding as much about those diagnosis to ascertain any genetic details is of great benefit.
Similarly, if patients themselves have had any previous genetic testing, understanding what has already been found may assist in informing other potential genes of interest or lines of inquiry.
Clinical presentations of persistent microscopic haematuria are suggestive of an underlying genetic cause, particularly once non-genetic causes such as infection have been ruled out.
Patient onsets under the age of 30, particularly those in infancy or childhood are more likely to have a molecular cause for their kidney disease.
Some ethnicities are associated with a higher incidence of pathogenic variants in specific genes for example NPHS1 gene variants observed in Maltese cohorts and CFHR5 in Cypriot heritages. Certain ethnic groups are also underrepresented in population studies which may impact the diagnostic yield of genetic testing in some instances.