Renal tubular acidosis

Area of Science:

• Nephrology
• Genetics
• Biochemistry

Background:

• Renal tubular acidosis (RTA) comprises a group of kidney disorders affecting acid-base balance.
• Understanding the clinical, biochemical, and genetic underpinnings of RTA is crucial for effective management.

Purpose of the Study:

• To consolidate current knowledge on RTA's clinical and biochemical features.
• To update the genetic and molecular basis of primary RTA forms.
• To address diagnostic challenges, particularly for distal RTA in clinical practice.

Main Methods:

• Review of recent literature on RTA.
• Analysis of next-generation sequencing (NGS) applications in primary RTA.
• Evaluation of diagnostic markers, including urinary ammonium.

Main Results:

• NGS shows promise in identifying novel pathogenic variants in RTA patients.
• Urinary ammonium measurement is vital for diagnosing metabolic acidosis.
• Incomplete distal RTA diagnosis is discussed, emphasizing the need for validated urinary indexes.

Conclusions:

• Current RTA information is updated, focusing on genetic and diagnostic advancements.
• Further pediatric studies are needed to validate diagnostic urinary indexes for RTA.
• A perspective on the future of diagnostic genetic testing for RTA is provided.