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NeoReviews Feb 2024See Bonus NeoBriefs videos and downloadable teaching slides Metabolic acidosis can manifest in the neonatal period and cause significant morbidity and mortality in... (Review)
Review
See Bonus NeoBriefs videos and downloadable teaching slides Metabolic acidosis can manifest in the neonatal period and cause significant morbidity and mortality in neonates. Preterm infants are at an even higher risk of developing metabolic acidosis. If the acidosis results from a dysfunction of acid-base homeostasis by the renal system, the disorder is known as renal tubular acidosis (RTA). In this review, we will describe renal development and normal acid-base homeostasis by the renal system. We will also discuss the pathophysiology of the different types of RTA, laboratory findings to aid in diagnosis, and treatment considerations. Understanding RTA will help neonatal clinicians recognize and diagnose an infant affected by RTA and initiate treatment in a timely manner.
Topics: Infant; Humans; Infant, Newborn; Acidosis, Renal Tubular; Infant, Premature; Kidney; Homeostasis
PubMed: 38296789
DOI: 10.1542/neo.25-2-e99 -
Pediatric Nephrology (Berlin, Germany) Dec 2021
PubMed: 34251494
DOI: 10.1007/s00467-021-05185-7 -
Journal of the American Society of... May 2021Two papers, one in 1986 and another one in 1988, reported a strong inverse correlation between urinary anion gap (UAG) and urine ammonia excretion (UNH) in patients with... (Review)
Review
Two papers, one in 1986 and another one in 1988, reported a strong inverse correlation between urinary anion gap (UAG) and urine ammonia excretion (UNH) in patients with metabolic acidosis and postulated that UAG could be used as an indirect measure of UNH This postulation has persisted until now and is widely accepted. In this review, we discuss factors regulating UAG and examine published evidence to uncover errors in the postulate and the design of the original studies. The essential fact is that, in the steady state, UAG reflects intake of Na, K, and Cl. Discrepancy between intake and urinary output of these electrolytes (, UAG) indicates selective extrarenal loss of these electrolytes or nonsteady state. UNH excretion, which depends, in the absence of renal dysfunction, mainly on the daily acid load, has no consistent relationship to UAG either theoretically or in reality. Any correlation between UAG and UNH, when observed, was a fortuitous correlation and cannot be extrapolated to other situations. Furthermore, the normal value of UAG has greatly increased over the past few decades, mainly due to increases in dietary intake of potassium and widespread use of sodium salts with anions other than chloride as food additives. The higher normal values of UAG must be taken into consideration in interpreting UAG.
Topics: Acid-Base Equilibrium; Acidosis; Ammonia; Humans
PubMed: 33769949
DOI: 10.1681/ASN.2020101509 -
Pediatric Nephrology (Berlin, Germany) Dec 2021
PubMed: 34251493
DOI: 10.1007/s00467-021-05159-9 -
Nephrologie & Therapeutique Feb 2021Nephrocalcinosis is defined by calcium phosphate or calcium oxalate deposits in the kidney parenchyma, particularly in tubular epithelial cells and interstitial tissue....
Nephrocalcinosis is defined by calcium phosphate or calcium oxalate deposits in the kidney parenchyma, particularly in tubular epithelial cells and interstitial tissue. It should be differentiated from urolithiasis where calcium salts deposits are located in the kidney and urinary tract. The epidemiology of nephrocalcinosis in children is unknown but the condition is not so rare, with an increased incidence in preterm infants. Often detected as an incidental finding, nephrocalcinosis may be classified according to the radiological type: medullary, cortical or diffuse. Nephrocalcinosis in children can be caused by a variety of etiology. The most common causes concern medullary nephrocalcinosis and include hereditary tubular disorders, in particular distal renal tubular acidosis and Dent disease, metabolic disorders such as idiopathic hypercalciuria and hyperoxaluria, and iatrogenic causes such as vitamin D intoxication. In the newborn, the main cause is hypercalciuria of the premature baby, whose multifactorial origin is largely iatrogenic. Primary hyperoxaluria which can lead to early onset nephrocalcinosis and usually to chronic kidney disease should always be considered and further investigated. In order to provide a specific diagnosis, it is essential to take into account the family history, the clinical context and complete laboratory data. Early initiation of an appropriate etiological treatment is recommended and may prevent or delay the progression to chronic kidney disease in some cases.
Topics: Calcium Oxalate; Child; Humans; Hyperoxaluria; Infant, Newborn; Infant, Premature; Kidney; Nephrocalcinosis
PubMed: 33461896
DOI: 10.1016/j.nephro.2020.12.001 -
Kidney Diseases (Basel, Switzerland) Oct 2023Renal tubular acidosis (RTA) is caused by various disruptions to the secretion of H by distal renal tubules and/or dysfunctional reabsorption of HCO by proximal renal... (Review)
Review
BACKGROUND
Renal tubular acidosis (RTA) is caused by various disruptions to the secretion of H by distal renal tubules and/or dysfunctional reabsorption of HCO by proximal renal tubules, which causes renal acidification dysfunction, ultimately leading to a clinical syndrome characterized by hyperchloremic metabolic acidosis with a normal anion gap. With the development of molecular genetics and gene sequencing technology, inherited RTA has also attracted attention, and an increasing number of RTA-related pathogenic genes have been discovered and reported.
SUMMARY
This paper focuses on the latest progress in the research of inherited RTA and systematically reviews the pathogenic genes, protein functions, clinical manifestations, internal relationship between genotypes and clinical phenotypes, diagnostic clues, differential diagnosis, and treatment strategies associated with inherited RTA. This paper aims to deepen the understanding of inherited RTA and reduce the missed diagnosis and misdiagnosis of RTA.
KEY MESSAGES
This review systematically summarizes the pathogenic genes, pathophysiological mechanisms, differential diagnosis, and treatment of different types of inherited RTA, which has good clinical value for guiding the diagnosis and treatment of inherited RTA.
PubMed: 37901710
DOI: 10.1159/000531556 -
Pediatric Nephrology (Berlin, Germany) Aug 2024Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000-200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene... (Review)
Review
Cystinosis is a rare autosomal recessive disease with an incidence 1 per 100,000-200,000 live births. It is caused by pathogenic variants of the cystinosin (CTNS) gene that lead to impaired cystine transport from lysosomes to cystosol, resulting in cystine accumulation in lysosomes and subsequent cellular dysfunction. The initial manifestation, cystine accumulation in proximal tubular cells (PTCs), causes renal Fanconi syndrome, which presents with proximal renal tubular acidosis and generalized dysfunction of the proximal tubule, including the presence of polyuria, glycosuria, phosphaturia, aminoaciduria, tubular proteinuria, growth retardation, and rickets. Eventually, glomerular involvement, glomerular proteinuria, focal segmental glomerulosclerosis (FSGS), and progression to kidney failure occur. Although the kidneys are the first organs affected, and play a key role in morbidity and mortality, extrarenal multiorgan involvement can occur in patients with cystinosis, which is seen not only in adults but in early ages in untreated patients, patients with insufficient treatment, and in those that don't comply with treatment. The treatment of cystinosis consists of supportive treatment for Fanconi syndrome, and specific lifelong cystine-depleting therapy using oral cysteamine. There is strong evidence that as early as possible, initiation and ongoing appropriate therapy with cysteamine are essential for delaying the progression to kidney failure, end-organ damage, and extrarenal involvement. The present review aimed to evaluate the extra renal complications of cystinosis.
Topics: Humans; Cystinosis; Fanconi Syndrome; Cysteamine; Cystine Depleting Agents; Amino Acid Transport Systems, Neutral
PubMed: 38127152
DOI: 10.1007/s00467-023-06225-0 -
World Journal of Pediatrics : WJP Oct 2019Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This... (Review)
Review
BACKGROUND
Distal renal tubular acidosis (dRTA) is a kidney tubulopathy that causes a state of normal anion gap metabolic acidosis due to impairment of urine acidification. This review aims to summarize the etiology, pathophysiology, clinical findings, diagnosis and therapeutic approach of dRTA, with emphasis on genetic causes of dRTA.
DATA SOURCES
Literature reviews and original research articles from databases, including PubMed and Google Scholar. Manual searching was performed to identify additional studies about dRTA.
RESULTS
dRTA is characterized as the dysfunction of the distal urinary acidification, leading to metabolic acidosis. In pediatric patients, the most frequent etiology of dRTA is the genetic alteration of genes responsible for the codification of distal tubule channels, whereas, in adult patients, dRTA is more commonly secondary to autoimmune diseases, use of medications and uropathies. Patients with dRTA exhibit failure to thrive and important laboratory alterations, which are used to define the diagnosis. The oral alkali and potassium supplementation can correct the biochemical defects, improve clinical manifestations and avoid nephrolithiasis and nephrocalcinosis.
CONCLUSIONS
dRTA is a multifactorial disease leading to several clinical manifestations. Clinical and laboratory alterations can be corrected by alkali replacement therapy.
Topics: Acidosis, Renal Tubular; Adolescent; Anion Exchange Protein 1, Erythrocyte; Child; Humans; Mutation; Vacuolar Proton-Translocating ATPases
PubMed: 31079338
DOI: 10.1007/s12519-019-00260-4 -
The Journal of International Medical... Mar 2021We report the case of a family in which two sisters have distal renal tubular acidosis (dRTA). Familial dRTA is a rare disorder, with both autosomal dominant and...
We report the case of a family in which two sisters have distal renal tubular acidosis (dRTA). Familial dRTA is a rare disorder, with both autosomal dominant and recessive transmission. This is a report of familial dRTA from China.
Topics: Acidosis, Renal Tubular; China; Humans; Mutation
PubMed: 33726529
DOI: 10.1177/03000605211000533