Last updated:
7/24/2025
Years published: 2019, 2025
NORD gratefully acknowledges Gioconda Alyea, MD (FMG), MS, National Organization for Rare Disorders and Daniel Batlle, MD, Earle, del Greco Levin Professor of Nephrology/ Hypertension, Professor of Medicine, Northwestern University Feinberg School of Medicine, Division of Nephrology/ Hypertension, for assistance in the preparation of this report.
Summary
Primary distal renal tubular acidosis (primary dRTA) is a rare genetic disorder that affects the ability of the kidneys to remove acid from the blood. This leads to metabolic acidosis. Metabolic acidosis is a condition in which the circulating chemical acids and bases are out of balance. The blood of affected individuals contains too much acid, and the urine contains too little acid. Chronic metabolic acidosis can lead to a variety of symptoms. The specific signs, symptoms and severity of this disorder can vary from one person to another.
There are different forms of primary distal renal tubular acidosis. They are caused by changes (variants) in at least five different genes: SLC4A1, ATP6V0A4, ATP6V1B1, FOX11 and WDR72. A variant in the SLC4A1 gene is usually inherited in an autosomal dominant pattern and less often in an autosomal recessive pattern. Variants in the ATP6V0A4 and ATP6V1B1 genes are usually inherited in an autosomal recessive pattern and are associated with sensorineural deafness. Variants in the FOXI1 and WDR72 genes are less common causes of primary dRTA. These variants are inherited in an autosomal recessive pattern. Additional unidentified genes might also cause the disorder.
Recommended treatment usually includes chemical compounds that neutralize acids (alkali therapy) such as a mixture of sodium and potassium salts in the form of sodium citrate or potassium citrate liquid solutions. Liquid preparations, however, do not taste good and are sometimes not accepted by patients. Sodium bicarbonate tablets can be used instead or in addition to the liquid solution. Often, potassium supplements may be necessary if not included in the alkali therapy.
Introduction
Renal tubular acidosis is a general term for when the kidneys cannot properly remove acid from the body. The kidneys contain nephrons, which are hair-sized structures that are the basic filtering units of the kidneys. Each nephron consists of a glomerulus and a renal tubule. The renal tubule reabsorbs electrolytes such as sodium, chloride and potassium back into the blood so that not too much electrolyte is lost through the urine. The kidneys, through the tubules, reclaim bicarbonate, an electrolyte that helps to maintain the acid-base balance in the body, and then excrete acid through the urine. Acid is produced as a byproduct from a normal diet.
There are four main types of renal tubular acidosis (RTA), each defined by where the problem occurs in the kidney tubules. Type 1, or distal RTA, involves a defect in the distal part of the tubules, where the kidneys fail to properly remove acid from the blood. Type 2, or proximal RTA, affects the proximal part of the tubules and leads to a loss of bicarbonate, a key substance for maintaining acid-base balance. Type 4, also known as hyperkalemic RTA, occurs when the kidneys cannot remove enough potassium, which interferes with acid excretion. Type 3 RTA is now considered a combination of types 1 and 2.
Distal type RTA is characterized by a buildup of acids in the blood because the distal tubules in the kidneys are not able to rid the body of the daily acid load. This results in an inability to lower urine pH regardless of the degree of acidemia (acid level in the blood). pH is the measure of acidity of liquids. The higher the score, the more alkaline and less acidic a liquid is. Distal refers to being “distant” from the point of origin. In the nephron, it means the defect occurs away from the point where fluid enters the tubule. Distal renal tubular acidosis occurs because the kidneys fail to secrete acids into the urine. Distal renal tubular acidosis can be primary (inherited) or secondary (acquired).
The following are less common subtypes:
Primary distal renal tubular acidosis is a highly variable disorder which means that the disorder affects people differently. Some people may only have slightly elevated acid levels and no other symptoms (asymptomatic). Some people living with primary dRTA may develop kidney stones and others may not. Generally, people with a form of dRTA that has an autosomal dominant pattern of inheritance have milder symptoms and a later age of onset of symptoms than people with a form of dRTA that has an autosomal recessive pattern of inheritance. However, this is not always true and sometimes more severe complications such as growth failure or bowing of the bones (rickets) can affect people with dominantly inherited primary distal renal tubular acidosis.
Primary dRTA can cause severe complications in infants, especially if unrecognized and untreated. Affected infants can have the following signs and symptoms:
Many of these symptoms are related to metabolic acidosis. This is a serious and often life-threatening condition where there is too much acid in the body fluids. This happens because of a problem with the body’s metabolism leading to a decrease in blood pH, making it more acidic than normal. Parents should seek prompt medical attention if a baby shows signs of metabolic acidosis.
Other problems may include:
If untreated, nephrocalcinosis can cause damage to the kidneys resulting in chronic kidney disease (CKD) and reduced kidney function.
In severely affected children, if untreated, extreme muscle weakness (muscle paralysis), abnormal heartbeats (cardiac arrhythmia) and episodes of difficulty breathing or stopping breathing (respiratory arrest) can develop. These symptoms are related to low levels of potassium in the blood (hypokalemia). Potassium is an important electrolyte for the health of nerves and muscles. The kidneys excrete excess potassium through the urine. However, in primary distal renal tubular acidosis the kidneys sometimes excrete too much potassium. Hypokalemia may also contribute to excessive urination (polyuria).
A few people with the autosomal recessive forms of dRTA develop sensorineural hearing loss. Sensorineural hearing loss occurs when the nerves within the ear cannot properly send sensory input (sound) to the brain, and this is not caused by problems with the ear itself. The degree and progression of sensorineural hearing loss can vary from one child to another but often affects both ears (bilateral) and it is usually severe.
People affected with an autosomal dominant dRTA usually have a milder form of the disorder with onset of symptoms in adolescence or adulthood. Affected adults may develop the following signs and symptoms:
Occasionally, people with an inherited variant in the SLC4A1 gene have experienced the premature breakdown of red blood cells, which leads to low levels of circulating red blood cells (hemolytic anemia). The main function of red blood cells is to deliver oxygen throughout the body. People with hemolytic anemia can have shortness of breath (dyspnea), lightheadedness, fatigue, weakness, pale skin color and headaches.
People with variants in the FOXI1 gene present with dRTA, bilateral nephrocalcinosis and early-onset sensorineural deafness.
WDR72 gene variants cause a unique subtype of dRTA associated with amelogenesis imperfecta, a defect in tooth mineralization and enamel formation.
Primary distal renal tubular acidosis is caused by changes (variants) in one of at least five different genes: SLC4A1, ATP6V0A4, ATP6V1B1, FOX11 and WDR72. Genes provide instructions for creating proteins that play a critical role in many functions of the body. When a gene variant occurs, the protein product may be faulty, inefficient, absent, or overproduced. Depending upon the functions of the protein, this can affect many organ systems of the body. In some affected individuals, no variants in any of these five genes can be identified suggesting that variants in other, as-yet-unidentified genes can play a role in primary dRTA.
The SLC4A1 gene contains instructions for producing (encoding) a protein called anion exchanger 1 or AE1. This protein helps negatively charged atoms cross cell membranes; specifically, it helps exchange chlorine ions for bicarbonate ions. Bicarbonate is an electrolyte that helps maintain the acid-base balance in the body and is filtered by the kidneys but most of the bicarbonate is still retained in the blood and the urine contains very small amounts. The AE1 protein is found in the membranes of kidney cells and red blood cells. The kidneys reclaim filtered bicarbonate and then release acid into the urine to be excreted from the body. Researchers have speculated that a variant in the SLC4A1 gene prevents enough functional AE1 protein from reaching the cell membranes of kidney and red blood cells. Ultimately, this prevents the kidneys from releasing acid into the urine. Acid then builds up in the blood and tissues of the body (metabolic acidosis). The reason why some people develop metabolic acidosis, and others do not is not fully understood. In red blood cells, AEI protein cannot reach the red cell membrane resulting in red blood cells that break down prematurely. Some altered AE1 proteins can still reach the membranes of red blood cells because it is helped by another protein called glycophorin A. This is most likely why many people with a disease-causing variant in the SLC4A1 gene do not develop hemolytic anemia.
The ATP6V0A4 and the ATP6V1B1 genes encode specific proteins that are part of a protein complex called vacuolar H+-ATPase (V-ATPase). This protein complex acts as a proton pump that helps to move positively charged atoms (protons) across cell membranes and helps to regulate acid levels of cells and their surrounding areas. These proteins are commonly found in cells of the inner ear and within the nephron, which is the basic filtering unit of the kidneys. These proteins have a role in regulating the amount of acid removed from the blood to the urine, and in maintaining the proper acid balance within the ear.
The FOXI1 gene provides instructions for making a forkhead transcription factor protein that helps control how other genes turn on or off, i.e., it regulates the expression of genes. This protein is especially important for the normal development and function of the inner ear, kidneys and certain tissues that line the body (epithelial tissues). It helps keep the body’s acid-base and electrolyte (like sodium and potassium) balance in check, which is important for overall health. It also helps guide how certain cells grow and develop in these areas.
The WDR72 gene helps make a protein that’s important for forming strong and healthy tooth enamel, the hard outer layer of the teeth. Variants in this gene are linked to a condition called amelogenesis imperfecta, which causes enamel to be thin or soft. Although it is not yet fully understood how this gene works, it may also play a role in how certain kidney cells function, possibly affecting how the body handles acid and contributing to dRTA.
Variants in the SLCA41 gene are usually inherited in an autosomal dominant pattern and less often in an autosomal recessive pattern. Variants in the ATP6V0A4 and the ATP6V1B1 genes are inherited in an autosomal recessive pattern. Variants in the FOXI1 and the WDR72 genes are inherited in an autosomal recessive pattern.
Dominant genetic disorders occur when only a single copy of a disease-causing gene variant is necessary to cause the disease. The gene variant can be inherited from either parent or can be the result of a new (de novo) changed gene in the affected individual that is not inherited. The risk of passing the gene variant from an affected parent to a child is 50% for each pregnancy. The risk is the same for males and females.
Recessive genetic disorders occur when an individual inherits a disease-causing gene variant from each parent. If an individual receives one normal gene and one disease-causing gene variant, the person will be a carrier for the disease but usually will not show symptoms. The risk for two carrier parents to both pass the gene variant and have an affected child is 25% with each pregnancy. The risk of having a child who is a carrier like the parents is 50% with each pregnancy. The chance for a child to receive normal genes from both parents is 25%. The risk is the same for males and females.
Primary distal renal tubular acidosis affects females and males in equal numbers. The exact number of people who have this disorder is unknown; however, studies have estimated that the disease prevalence is about 0.38 per 100,000 in the United States. Rare disorders like primary distal renal tubular acidosis often go misdiagnosed or undiagnosed, making it difficult to determine their true frequency in the general population.
A diagnosis of primary dRTA may be suspected based on identification of characteristic symptoms, a detailed patient and family history, a thorough clinical evaluation and a variety of specialized tests. The disorder may be suspected in individuals with unexplained metabolic acidosis and an elevated plasma chloride (so called normal anion gap metabolic acidosis). Genetic testing can confirm a diagnosis. Molecular genetic testing can detect disease-causing variants in the specific genes known to cause primary dRTA and can determine the specific subtype.
Clinical Testing and Workup
Doctors may order blood and urine tests to determine if the blood is more acidic than it should be and that the urine is less acidic than it should be. The pH levels in the urine of affected individuals are variable but usually do not fall below 5.5. pH is the measure of acidity of these liquids. The higher the score, the more alkaline and less acidic a liquid is. This indicates that the kidneys are not filtering acid out from the blood. Consequently, blood tests will show excessive levels of acid and may also be low in bicarbonate and potassium.
These tests may be followed by an estimation of the amount of ammonia excreted through the urine. Most laboratories usually do not perform a direct measurement of ammonia excretion. Urine ammonium is often roughly estimated indirectly by calculating the urine anion gap which is always positive (range 0-80 mEq/L) when the patient has distal renal tubular acidosis but negative (0 to -80 mEq/L) with other types of acidosis such as that caused by diarrhea.
A 24-urine test may be conducted to check for the levels of calcium, citrate, potassium and oxalate. People with primary distal renal tubular acidosis may have high levels of calcium (hypercalcinemia), significantly low levels of citrate (hypocitraturia) and potassium wasting, which is the excessive excretion of potassium in the urine. Citrate is an acid and low levels of this acid increase the risk of nephrocalcinosis and kidney stone formation. Oxalate is a natural chemical in the body that comes from various sources of food. Too much oxalate in the urine (hyperoxaluria) can have many causes including several genetic disorders affecting the kidneys.
Primary distal renal tubular acidosis needs to be distinguished from proximal distal renal tubular acidosis. This can be done by examining the pattern of urinary bicarbonate excretion in the urine in conjunction with the urine pH. Patients with proximal renal tubular acidosis normally have a high urine pH but it can be lower when the plasma bicarbonate is very low.
Plain X-rays or specialized imaging techniques such as computerized tomography (CT) scanning or ultrasonography can help to further confirm a diagnosis or help determine the extent of disease. These tests can show the accumulation or deposition of calcium in the kidneys and help to rule out other conditions. During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images of certain tissue structures. During ultrasonography, reflected sound waves are used to create an image of structures within the body including the kidneys.
Primary distal renal tubular acidosis needs to be distinguished from acquired forms of distal renal tubular acidosis. Different tests can help to determine the underlying causes of the acquired form.
Treatment
The treatment of primary distal renal tubular acidosis may require the coordinated efforts of a team of specialists. A doctor who specializes in diagnosing and treating kidney disorders (nephrologist) may be a critical member of the care team. A pediatric nephrologist specializes in kidney disorders in children. Physicians who specialize in diagnosing and treating skeletal disorders (orthopedists), an audiologist to monitor hearing and other healthcare professionals may need to systematically and comprehensively help guide treatment.
Genetic counseling may be recommended for affected individuals and their families. Psychosocial support for the entire family can be essential as well.
People with primary distal renal tubular acidosis are treated with alkali therapy. Alkali are chemical compounds that neutralize acids. Alkali therapy usually leads to normal growth in children and can improve other symptoms including lowering the tendency to develop calcium build up in the kidneys and calcium stones and reverse bone disease. Alkali therapy usually consists of drinking a solution of sodium bicarbonate (baking soda) or sodium citrate every day to counteract the acids produced from eating each day. The dose and specific type of alkali therapy depends upon the bicarbonate and potassium concentrations in the blood serum. Children generally require larger doses; these doses are adjusted as a child ages. Most individuals do not have symptoms (asymptomatic) when properly treated, except for irreversible kidney or skeletal damage that has occurred before treatment was begun.
The goal of treatment is to keep plasma bicarbonate levels within the normal range (23–28 mEq/L). Alkali therapy has the greatest impact when started in childhood, but it must continue for life to avoid the long-term damage caused by chronic acidosis.
If low potassium levels persist (hypokalemia), affected individuals may require treatment with alkylating potassium salt like potassium citrate. Potassium citrate (versus sodium citrate) may also be recommended when calcium stones are present because sodium can increase calcium stone formation. Citrate salts like potassium citrate correct low levels of citrate (hypocitraturia) and prevent calcium stone formation.
The focus of treatment in individuals with severe hypokalemia that causes paralysis or breathing problems (respiratory compromise) should be to correct the low potassium levels with an intravenous potassium chloride.
Children with autosomal recessive primary distal renal tubular acidosis should receive routine hearing assessments through childhood to detect hearing loss. Hearing loss does not usually respond to alkali therapy. Other treatments can include vitamin D or oral calcium supplements to help reduce skeletal abnormalities such as rickets or osteomalacia.
People with low levels of potassium in the blood (hypokalemia) may need potassium supplementation. Treatment with a diuretic or “water pill” (amiloride) can help conserve potassium levels and reduce the need for potassium supplementation in some affected individuals but it could worsen the metabolic acidosis and therefore its use is not generally recommended.
Sibnayal is a combination of potassium citrate and potassium bicarbonate approved in 2021 in Europe and the UK to treat primary dRTA in patients aged ≥ 1 year. It is not yet approved by the U.S. Food and Drug Administration (FDA) but it holds orphan drug status (since December 2022) and is in phase 3 clinical trials.
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/. All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
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JOURNAL ARTICLES
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Batlle D, Ba Aqeel SH, Marquez A. The Urine Anion Gap in Context. Clin J Am Soc Nephrol. 2018;13(2):195-197. https://www.ncbi.nlm.nih.gov/pubmed/29311217
Enerbäck S, Nilsson D, Edwards N, et al. Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. J Am Soc Nephrol. 2018;29(3):1041-1048. doi:10.1681/ASN.2017080840
Park E, Cho MH, Hyun HS, et al. Genotype-phenotype analysis in pediatric patients with distal renal tubular acidosis. Kidney Blood Press Res. 2018;43:513-521. https://www.karger.com/Article/FullText/488698
Vallés PG, Batlle D. Hypokalemic Distal Renal Tubular Acidosis. Adv Chronic Kidney Dis. 2018;25(4):303-320. https://www.ncbi.nlm.nih.gov/pubmed/30139458
Besouw MTP, Bienias M, Walsh P, et al. Clinical and molecular aspects of distal renal tubular acidosis in children. Pediatr Nephrol. 2017;32:987-996. https://www.ncbi.nlm.nih.gov/pubmed/28188436
Palazzo V, Provenzano A, Becherucci F, et al. The genetic and clinical spectrum of a large cohort of patients with distal renal tubular acidosis. Kidney Int. 2017;91:1243-1255. https://www.ncbi.nlm.nih.gov/pubmed/28233610
Gomez J, Gil-Pena H, Santos F, et al. Primary distal renal tubular acidosis: novel findings in patients studied by next-generation sequencing. Pediatr Res. 2016;79:496-501. https://www.nature.com/articles/pr2015243#ref16
Pitukweerakul S, Prachuapthunyachart S. Bilateral nephrocalcinosis in primary distal renal tubular acidosis. J Gen Intern Med. 2016;31:1261. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5023593/
Batlle D, Haque SK. Genetic causes and mechanisms of distal renal tubular acidosis. Nephrol Dial Transplant. 2012;27:3691-3704. https://academic.oup.com/ndt/article/27/10/3691/1830963
Swayamprakasam AP, Stover E, Norgett E, et al. Importance of early audiologic assessment in distal renal tubular acidosis. Int Med Case Rep J. 2010;4:7-11. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3658229/
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Vargas-Poussou R, Houillier P, Le Pottier N, et al. Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene. J Am Soc Nephrol. 2006;17:1437-1443. https://jasn.asnjournals.org/content/17/5/1437.long
INTERNET
Distal Renal Tubular Acidosis. Orphanet. March 2022. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=18 Accessed July 24, 2025.
Hechanova LA. Renal Tubular Acidosis (RTA). Merck Manual Online Consumer Version website. Available at: https://www.merckmanuals.com/professional/genitourinary-disorders/renal-transport-abnormalities/renal-tubular-acidosis Accessed July 24, 2025.
NIH/National Institute of Diabetes and Digestive and Kidneys Diseases. Renal tubular acidosis. November 2020. Available at: https://www.niddk.nih.gov/health-information/kidney-disease/renal-tubular-acidosis Accessed July 24, 2025.
Emmett M and Palmer BF. Etiology and clinical manifestations of renal tubular acidosis in infants and children. UpToDate, Inc. September 20, 2023. Available at: https://www.uptodate.com/contents/etiology-and-diagnosis-of-distal-type-1-and-proximal-type-2-renal-tubular-acidosis Accessed July 24, 2025.
Emmett M, Palmer BF. Treatment of distal (type 1) and proximal (type 2) renal tubular acidosis. UpToDate, Inc. March 11, 2024. Available at: https://www.uptodate.com/contents/treatment-of-distal-type-1-and-proximal-type-2-renal-tubular-acidosis Accessed July 24, 2025.
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Mattoo TK. Etiology and clinical manifestations of renal tubular acidosis in infants and children. UpToDate, Inc. October 8, 2024. 8. Available at: https://www.uptodate.com/contents/etiology-and-clinical-manifestations-of-renal-tubular-acidosis-in-infants-and-children Accessed July 24, 2025.
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