What is the role of next-gen DNA (Deoxyribonucleic Acid) sequencing in managing patients with urinary albuminuria (UA)?

From the Guidelines

Next-gen DNA sequencing is not currently recommended for routine management of patients with urinary albuminuria (UA), but it may be beneficial in specific cases where hereditary kidney diseases are suspected. The current guidelines for evaluating and managing chronic kidney disease (CKD) recommend measurement of urinary albumin-to-creatinine ratio (ACR) for assessing proteinuria, as it accurately predicts kidney and cardiovascular risks 1. While genetic testing, including next-gen DNA sequencing, can be valuable in identifying specific genetic mutations causing glomerular damage and protein leakage, its role is still evolving and primarily beneficial for patients with suspected hereditary kidney diseases, early-onset albuminuria, strong family history of kidney disease, or albuminuria that doesn't respond to standard treatments.

Some key points to consider when evaluating the use of next-gen DNA sequencing in patients with UA include:

• The importance of urinary ACR in predicting kidney and cardiovascular risks, as highlighted in the 2012 clinical practice guideline by the Kidney Disease: Improving Global Outcomes (KDIGO) 1
• The potential benefits of genetic testing in identifying specific genetic mutations and tailoring treatment accordingly
• The need for careful patient selection, as next-gen DNA sequencing is not yet routine in all cases of albuminuria
• The evolving nature of genetic testing and its increasing importance in personalized kidney care, especially as costs decrease and our understanding of genotype-phenotype correlations improves.

In terms of specific genetic mutations, some genes associated with kidney function that may be analyzed through next-gen DNA sequencing include NPHS1, NPHS2, WT1, and COL4A3-5, which can help identify causes of glomerular damage and protein leakage. However, the use of next-gen DNA sequencing in managing patients with UA should be guided by the most recent and highest-quality evidence, and its application should be tailored to individual patient needs and circumstances.

From the Research

Next-Gen DNA Sequencing for Urinary Albuminuria (UA)

• Next-gen DNA sequencing has been explored for its potential in managing patients with urinary albuminuria (UA) 2.
• However, the primary use of next-gen DNA sequencing in the context of UA is not directly related to the management of albuminuria itself, but rather to the diagnosis of underlying conditions such as urinary tract infections (UTIs) 2.
• The study on the usefulness of next-generation DNA sequencing for the diagnosis of urinary tract infection found that the NGS method effectively identified predominant culture-positive bacteria in urine samples 2.

Role of Albuminuria in Patient Management

• Albuminuria is a significant predictor of cardiovascular disease events and is used as a marker for kidney damage 3, 4, 5, 6.
• Clinical guidelines recommend the use of ACE inhibitors or angiotensin II receptor blockers in patients with elevated albuminuria 3, 4.
• The measurement of albuminuria is useful for risk stratification in patients with heart failure with preserved ejection fraction (HFpEF) 5.

Limitations of Current Evidence

• There is limited direct evidence on the use of next-gen DNA sequencing for the management of urinary albuminuria 2.
• Most studies focus on the use of albuminuria as a marker for kidney damage and cardiovascular risk, rather than its direct management using next-gen DNA sequencing 3, 4, 5, 6.