Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments

Renal tubular acidosis (RTA) comprises a group of disorders in which excretion of hydrogen ions or reabsorption of filtered HCO3 is impaired, leading to chronic metabolic acidosis with normal anion gap. In the current review, the focus is placed on the most common type of RTA, Type 1 RTA or Distal RTA (dRTA), which is a rare chronic genetic disorder characterized by an inability of the distal nephron to secrete hydrogen ions in the presence of metabolic acidosis. Over the years, knowledge of the molecular mechanisms behind acid secretion has improved, thereby greatly helping the diagnosis of dRTA. The primary or inherited form of dRTA is mostly diagnosed in infancy, childhood, or young adulthood, while the acquired secondary form, as a consequence of other disorders or medications, can happen at any age, although it is more commonly seen in adults. dRTA is not as “benign” as previously assumed, and can have several, highly variable long-term consequences. The present review indeed reports and summarizes both clinical symptoms and diagnosis, long-term outcomes, genetic inheritance, epidemiology and current treatment options, with the aim of shedding more light onto this rare disorder. Being a chronic condition, dRTA also deserves attention in the transition between pediatric and adult nephrology care, and as a rare disease it has a place in the European and Italian rare nephrological diseases network.

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Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

Giglio

Montini

Trepiccione

et al. 2021

J Nephrol

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The pathophysiology of distal renal tubular acidosis

et al. 2023

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The kidneys have a central role in the control of acid-base homeostasis owing to bicarbonate reabsorption and production of ammonia and ammonium in the proximal tubule and active acid secretion along the collecting duct. Impaired acid excretion by the collecting duct system causes distal renal tubular acidosis (dRTA), which is characterized by the failure to acidify urine below pH 5.5. This defect originates from reduced function of acid-secretory type A intercalated cells. Inherited forms of dRTA are caused by variants in SLC4A1, ATP6V1B1, ATP6V0A4, FOXI1, WDR72 and likely in other genes that are yet to be discovered. Inheritance of dRTA follows autosomal dominant and recessive patterns. Acquired forms of dRTA are caused by various types of autoimmune diseases or adverse effects of some drugs.Incomplete dRTA is frequently found in patients with and without kidney stone disease.These patients fail to appropriately acidify their urine when challenged, suggesting that incomplete dRTA may represent an intermediate state in the spectrum of the ability to excrete acids. Unrecognized or insufficiently treated dRTA can cause rickets and failure to thrive in children, osteomalacia in adults, nephrolithiasis and nephrocalcinosis. Electrolyte disorders are also often present and poorly controlled dRTA can increase the risk of developing chronic kidney disease. GlossaryEndolymph: Potassium rich fluid filling the cochlear duct and membranous labyrinth of the inner ear, secreted by the stria vascularis.Ovalocytosis: red blood cell deformity with oval-shaped red blood cells, also called elliptcytosis, that are mostly caused by defects in the cytoskeleton. In the case of SAO, the anchoring of the cytoskeleton to the membrane is reduced due to the absence of the AE1 containing protein complex.Sjögren overlap syndrome. Overlap of autoimmune disorders with anti-SSA(Ro) positive antibodies that may include features of Sjögren, SLE, myositis, scleroderma, vasculitis and rheumatoid arthritis.

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Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

Trepiccione

Walsh

Ariceta

et al. 2021

Nephrology Dialysis Transplantation

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Distal renal tubular acidosis (dRTA) is characterised by an impaired ability of the distal tubule to excrete acid, leading to metabolic acidosis. Associated complications include bone disease, growth failure, urolithiasis and hypokalaemia. Due to its rarity, there is a limited evidence to guide diagnosis and management, however, available data strongly suggest that metabolic control of the acidosis by alkali supplementation can halt or revert almost all complications. Despite this, cohort studies show that adequate metabolic control is present in only about half of patients, highlighting problems with treatment provision or adherence. With these clinical practice points the authors, part of the working groups tubulopathies in the European Rare Kidney Disease Reference network (ERKnet) and inherited kidney diseases of the European Society for Paediatric Nephrology (ESPN) aim to provide guidance for the management of patients with dRTA to facilitate adequate treatment and establish an initial best practice standard against which treatment of patients can be audited.

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Correction to: Efficacy and safety of an innovative prolonged-release combination drug in patients with distal renal tubular acidosis: an open-label comparative trial versus standard of care treatments

Cited by 5 publications

References 25 publications

Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

Distal renal tubular acidosis: a systematic approach from diagnosis to treatment

The pathophysiology of distal renal tubular acidosis

Distal renal tubular acidosis: ERKNet/ESPN clinical practice points

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