Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus
COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a …

Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria
and progressive kidney failure. It is characterized by a defective glomerular basement …

The growing accessibility and falling costs of genetic sequencing techniques has expanded
the utilization of genetic testing in clinical practice. For living kidney donation, genetic …

Key Points Genetics of Chronic Kidney Disease Genetic causes of chronic kidney disease
(CKD) are not uncommon. Patients with CKD should be referred for genetic consultation and …

Background Genetic testing in CKD has recently been shown to have diagnostic utility with
many predicted implications for clinical management, but its effect on management has not …

Focal segmental glomerulosclerosis (FSGS) is not a disease, rather a pattern of histological
injury occurring from a variety of causes. The exact pathogenesis has yet to be fully …

Given the wide diversity of causes of hematuria, ranging from simple urinary tract infections
with rapid recovery to severe glomerulonephritis with fast decline in kidney function, it is …

Renal biopsies are the gold standard for diagnosis, staging, and prognosis of underlying
parenchymal kidney disease. This article provides an overview of the current indications and …

Familial hematuria is a clinical sign of a genetically heterogeneous group of conditions,
accompanied by broad inter-and intrafamilial variable expressivity. The most frequent …

As genetic testing is increasingly integrated into nephrology practice there is a growing need
for partnership with genetic experts. Genetic counselors are ideally suited to fill this role. The …