Urine dipstick tests are widely used in routine medical care to diagnose kidney and urinary
tract and metabolic diseases. Several environmental factors are known to affect the test …

Results In total, 16,866 hematuria cases and 391,420 controls were included. Cases had
higher urinary albumin-creatinine compared with controls (women: 13.01 mg/g [8.05–21.33] …

Our GWAS of hematuria in the UK Biobank identified 6 loci, some of which overlap with loci
for albuminuria suggesting pleiotropy. Since clinical syndromes are often defined by …

Familial hematuria (FH) is explained by at least four different genes (see below). About 50%
of patients develop late proteinuria and chronic kidney disease (CKD). We hypothesized that …

We present a genome-wide association study of metabolic traits in human urine, designed to
investigate the detoxification capacity of the human body. Using NMR spectroscopy, we …

Rationale & Objective Mono-allelic variants in COL4A3 and COL4A4 (COL4A3/COL4A4)
have been identified in a spectrum of glomerular basement membrane nephropathies …

Clinical laboratory tests are a critical component of the continuum of care. We evaluate the
genetic basis of 35 blood and urine laboratory measurements in the UK Biobank (n …

Alport syndrome (AS) is a hereditary nephropathy characterized by glomerular basement
membrane lesions. AS shows a relatively rare entity with autosomal dominant gene mutation …

Background Inherited kidney diseases are a common cause of chronic kidney disease
(CKD) in children. Identification of a monogenic cause of CKD is more common in children …

Background. Heterozygous mutations in the COL4A3/COL4A4 genes are currently thought
to be responsible for familial benign microscopic haematuria and maintenance of normal …