How benign is hematuria? Using genetics to predict prognosis

Area of Science:

• Nephrology
• Genetics
• Molecular Pathology

Background:

• Hematuria is a common sign of glomerular disease, potentially leading to kidney failure.
• Isolated microscopic hematuria in children and young adults frequently suggests monogenic disorders.
• Common causes include Alport syndrome, thin basement membrane nephropathy, and IgA nephropathy.

Purpose of the Study:

• To review diseases presenting with isolated microscopic hematuria.
• To discuss molecular pathology, clinical features, and prognosis of these conditions.
• To highlight the role of genetic testing in diagnosis and management.

Main Methods:

• Literature review of genetic disorders causing isolated microscopic hematuria.
• Discussion of molecular basis, clinical presentation, and outcomes.
• Emphasis on the utility of genetic testing in clinical practice.

Main Results:

• Monogenic disorders are frequent causes of isolated microscopic hematuria in younger populations.
• Alport syndrome, thin basement membrane nephropathy, HANAC syndrome, IgA nephropathy, and CFHR5 nephropathy are key conditions.
• Genetic testing provides crucial diagnostic and prognostic information.

Conclusions:

• Genetic testing is vital for diagnosing and managing patients with isolated microscopic hematuria.
• Understanding the molecular pathology aids in predicting prognosis.
• Genetic information is particularly relevant for family counseling and kidney transplantation decisions.