The role of molecular genetics in diagnosing familial hematuria(s)

Familial microscopic hematuria (MH) of glomerular origin represents a heterogeneous group of monogenic conditions involving several genes, some of which remain unknown. Recent advances have increased our understanding and our ability to use molecular genetics for diagnosing such patients, enabling us to study their clinical characteristics over time. Three collagen IV genes, COL4A3, COL4A4, and COL4A5 explain the autosomal and X-linked forms of Alport syndrome (AS), and a subset of thin basement membrane nephropathy (TBMN). A number of X-linked AS patients follow a milder course reminiscent of that of patients with heterozygous COL4A3/COL4A4 mutations and TBMN, while at the same time a significant subset of patients with TBMN and familial MH progress to chronic kidney disease (CKD) or end-stage kidney disease (ESKD). A mutation in CFHR5, a member of the complement factor H family of genes that regulate complement activation, was recently shown to cause isolated C3 glomerulopathy, presenting with MH in childhood and demonstrating a significant risk for CKD/ESKD after 40 years old. Through these results molecular genetics emerges as a powerful tool for a definite diagnosis when all the above conditions enter the differential diagnosis, while in many at-risk related family members, a molecular diagnosis may obviate the need for another renal biopsy

Evaluation of clinical cases in External Quality Assessment Scheme (EQAS) for the urinary sediment.

BACKGROUND: The few available External Quality Assessment (EQA) programs on urinary sediment rarely include an evaluation of clinical cases. The present paper provides a descriptive analysis of clinical cases included in the Italian EQA program on urinary sediment. METHODS: Ten cases were presented over a 5-year period (2007-2011). Each clinical case included a brief clinical history, some key laboratory data and four key urinary sediment particles obtained by phase contrast microscopy. The clinical diagnoses indicated by participants, chosen among four or five proposed, were evaluated only for those who had been able to correctly identify all four urinary sediment particles. The results of each survey were then evaluated, scored and commented on. RESULTS: The numbers of participants for the 10 surveys ranged from 268 to 325. Throughout surveys, only 63.9%\ub117.0% (range 39.6%-88.7%) of participants achieved access to clinical diagnosis. Of these, 90.2%\ub18.5% (range 73.7%-98.1%) were able to indicate the correct diagnosis. CONCLUSIONS: Our findings demonstrate that once the correct identification of urinary sediment particles is obtained, most participants are able to associate urinary findings with the respective clinical conditions, thus establishing the correct diagnosis

Urine sediment analysis: Analytical and diagnostic performance of sediMAX - a new automated microscopy image-based urine sediment analyser

status: publishe