This book is a compilation of scientific knowledge regarding the clinical entity known as “Renal Tubular Acidosis in Children” (RTA). It contains the information needed to comprehend the intricate mechanisms of acid-base metabolism, electrolyte imbalance, and complications related to renal tubular acidosis in the pediatric age group, since the acid-base physiology and the clinical disorders associated with it in children are quite different from the adult counterpart.
The chapters, written by authors, experts in the field, describe systemic and renal physiology, electrolyte alterations, as well as the pathogenesis and chromosomal mutations leading to the development of RTA. The reader will find the latest information on diagnostic tools and learn how to approach diagnosis, avoiding improper treatment, rickets, nephrocalcinosis, and renal failure. In addition, new insights on classification, the clinical presentation of each type of RTA, molecular biology, and transmembrane protein transporters are covered.
This work is primarily directed at pediatric nephrologists and pediatricians. Nevertheless, general practitioners, medical students, residents and fellows at different medical training programs, and other health care professionals of nutrition, growth and development, gastroenterology and endocrinology may surely benefit from it.
Author(s): Ricardo Muñoz
Publisher: Springer
Year: 2022
Language: English
Pages: 170
City: Cham
Foreword
Preface
Contents
Contributors
Abbreviations
Chapter 1: Systemic Regulation of Acid-Base Metabolism
Introduction: Evolutionary Aspects of Acid-Base Metabolism
Physical and Chemical Principles of Acid-Base Metabolism
Buffer Mechanisms, pH, and pK Concepts
CO2 Production and Excretion
Acid Production and Hydrogen Balance
Acid-Base Balance
Hemoglobin and Erythrocyte Physiology
Clinical Aspects of Alterations in Acid-Base Metabolism
Metabolic Acidosis
Metabolic Alkalosis
Respiratory Acidosis
Respiratory Alkalosis
Mixed Acid-Base Alterations
References
Chapter 2: Renal Regulation of Acid-Base Metabolism
Introduction
Hydrogen Excretion and Bicarbonate Reabsorption in the Proximal Tubule
Ammonia Synthesis and Excretion in the Proximal Tubule
Hydrogen Excretion and Bicarbonate Reabsorption in the Loop of Henle
Metabolism of Ammonia in the Loop of Henle
Hydrogen and Ammonium Excretion in the Distal and Connector Tubules
Hydrogen Excretion in the Collecting Tubule
Excretion of Ammonia in the Collecting Tubule
The Physiological Impact of Urinary Buffers in the Excretion of Hydrogen
References
Chapter 3: Physiology of Renal Potassium Handling
Introduction
Potassium Balance
Renal Handling of Potassium
Factors that Regulate the Secretion of Potassium
Relationship Between Renal Potassium Metabolism and Acid-Base Balance
References
Chapter 4: Genetic Origin of Renal Tubular Acidosis
Introduction
Autosomal Recessive Proximal RTA
Autosomal Dominant Proximal RTA
Fanconi Syndrome with Proximal RTA
Distal RTA
Autosomal Dominant Distal RTA
Autosomal Recessive Distal RTA Is Heterogeneous
Autosomal Recessive Distal RTA Has Been Documented in Several Racial Groups
FOXI1 Transcription Factor
Autosomal Dominant Distal RTA
Autosomal Recessive Distal RTA Due to SLC4A1
WDR72
Mixed Renal Tubular Acidosis (Type III)
Hyperkalemic RTA (Type IV)
References
Chapter 5: History of Renal Tubular Acidosis
Distal Renal Tubular Acidosis
Transient Tubular Acidosis
Proximal Tubular Acidosis (PRTA)
The Other Forms of Renal Tubular Acidosis
References
Chapter 6: Classification of Renal Tubular Acidosis
Proximal Renal Tubular Acidosis (Type 2)
Distal Renal Tubular Acidosis (Type 1)
Type 3 Renal Tubular Acidosis
Type 4 Renal Tubular Acidosis
References
Chapter 7: Laboratory Diagnosis of Renal Tubular Acidosis. Acidification Tests
Simple Determinations
Blood
Urine
Tests in Which H+ Secretion Is Stimulated by an Acid Overload
Acidification Test with Ammonium Chloride (ClNH4)
Tests Performed with Another Source of Hydrogen Production
Tests in Which the Secretion of Hydrogen Ions Is Stimulated by an Increase in Tubular Electronegativity
Acidification Test with Furosemide (Stimulus to Acidify in Acidic Urine)
Determination of Maximum Urinary pCO2 (Stimulus to Acidify in Alkaline Urine)
Other Tests to Assess Urine Acidification by Increasing Tubular Electronegativity
Study of Proximal Tubular Reabsorption of Bicarbonate (HCO3−)
Determination of the Renal Threshold of Bicarbonate Reabsorption
Bicarbonate Fractional Excretion (FEHCO3−)
References
Chapter 8: Proximal Renal Tubular Acidosis (Type II)
Introduction
Etiology and Pathophysiology
Clinical Aspects
References
Chapter 9: Distal Renal Tubular Acidosis (Type I DRTA)
Introduction
Pathophysiology of Hereditary DRTA
Chromosomal and Physiological Alterations of the AE1 Antiporter
Chromosomal and Physiological Alterations of the H+ATPase Transporter Protein
Chromosomal and Physiological Alterations of the Carbonic Metalloenzyme Anhydrase II (AC II)
Pathophysiology of the Most Frequent Complications of RTA Type I
Diagnosis and Treatment of DRTA in Pediatric Patients
References
Chapter 10: Hyperkalemic Renal Tubular Acidosis (RTA Type IV)
Introduction
Physiological Mechanisms and Renal Pathophysiology in RTA with Hyperkalemia
Clinical Alterations Related to the Production and Renal Tubular Activity of Aldosterone
Differential Diagnosis of Hypoaldosteronism and Pseudo-Hypoaldosteronism
Management and Treatment of ATR IV
Prognosis
References
Chapter 11: Renal Tubular Acidosis Due to Miscellaneous Etiology
Introduction
RTA Secondary to Nephrotoxic Drugs Acting in the Distal Tubule (DRTA)
RTA Secondary to Nephrotoxic Drugs Acting in the Proximal Tubule (PRTA)
RTA Secondary to Nephrotoxic Drugs Acting in the “Distal Aldosterone-sensitive Nephron” (ASDN)
RTA Type IV in the Full-term Baby and the Premature Newborn
RTA Secondary to Severe Caloric-Protein Malnutrition
References
Index
