Distal renal tubular acidosis

Common Name(s)

Distal renal tubular acidosis

Distal renal tubular acidosis (distal acidosis primary, familial, dRTA, type 1 RTA) is a disorder that affects the kidneys and results in too much acid in the blood stream. Normally, the kidneys filter excess fluid and waste from the body through the urine, however, in individuals with distal renal (kidney) tubular acidosis, the kidneys are unable to remove enough acid and therefore acid levels in the blood become are too high. When the blood has high levels of acid, it is called metabolic acidosis. Symptoms of metabolic acidosis include confusion, fatigue, kidney stones, muscle weakness, and increased breathing rate. Other symptoms include a deficiency in vitamins leading to soft and weak bones (nephrocalcinosis, osteomalacia, rickets), decreased urine output, muscle cramps, back or abdominal pain, and an irregular heartbeat. Distal renal tubular acidosis can be complete or incomplete depending upon whether or not the person develops symptoms of metabolic acidosis or not despite the decrease in kidney function. In some individuals, blood cell abnormalities are also present such as hemolytic anemia. Distal renal tubular acidosis is diagnosed through a blood or urine test. People with this condition usually have a good outlook and can manage the symptoms well if they take prescribed medications. If you or a family member has been diagnosed with renal tubular acidosis, talk with your doctor and specialists about the most current treatment options.

Distal renal tubular acidosis can be inherited either in an autosomal dominant manner or autosomal recessive manner. The recessive form is more likely to have the associated blood cell abnormalities. This condition is most common in Southeast Asia, especially Thailand. A genetic counselor can provide an understanding of the underlying genetic causes as well as the recurrence risks.

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Condition Specific Organizations

Following organizations serve the condition "Distal renal tubular acidosis" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Distal renal tubular acidosis" returned 97 free, full-text research articles on human participants. First 3 results:

[Clinical features of hereditary distal renal tubular acidosis and SLC4A1 gene mutation].
 

Author(s): Juan DU, Qian-Qian Pang, Yan Jiang, Ou Wang, Mei Li, Xiao-Ping Xing, Wei-Bo Xia

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2017 Apr;19(4):381-384.

 

To study the clinical features of two families with distal renal tubular acidosis (dRTA) and mutations in the pathogenic gene SLC4A1.

Last Updated: 31 Dec 1969

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Failure to thrive and nephrocalcinosis due to distal renal tubular acidosis: A rare presentation of pediatric lupus nephritis.
 

Author(s): Madhumita Nandi, Mrinal Kanti Das, Sukanta Nandi

Journal: Saudi J Kidney Dis Transpl. ;27(6):1239-1241.

 

A 9-year-old female child was initially diagnosed of having nephrocalcinosis with distal renal tubular acidosis (dRTA) while investigating for short stature. She later on developed features of nephrotic syndrome (NS) while on treatment for RTA. Investigation for the cause of NS revealed ...

Last Updated: 31 Dec 1969

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Distal Renal Tubular Acidosis Associated with Celiac Disease and Thyroiditis.
 

Author(s): Amit Kumar Satapathy, Sapna Mittal, Vandana Jain

Journal: Indian Pediatr. 2016 Nov;53(11):1013-1014.

 

Association of distal renal tubular acidosis (RTA) with autoimmune diseases is extremely rare in children.

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Distal renal tubular acidosis" returned 8 free, full-text review articles on human participants. First 3 results:

Hyperammonemia in Distal Renal Tubular Acidosis: A New Case and Review of the Literature.
 

Author(s): Kai-Hsiang Hsu, Chi-Hui Cheng, Min-Hua Tseng, Jen-Fu Hsu, Reyin Lien, Peng-Hong Yang

Journal: Pediatr Neonatol. 2015 Dec;56(6):432-4.

 

Last Updated: 31 Dec 1969

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Everything you need to know about distal renal tubular acidosis in autoimmune disease.
 

Author(s): Tim Both, Robert Zietse, Ewout J Hoorn, P Martin van Hagen, Virgil A S H Dalm, Jan A M van Laar, Paul L A van Daele

Journal: Rheumatol. Int.. 2014 Aug;34(8):1037-45.

 

Renal acid-base homeostasis is a complex process, effectuated by bicarbonate reabsorption and acid secretion. Impairment of urinary acidification is called renal tubular acidosis (RTA). Distal renal tubular acidosis (dRTA) is the most common form of the RTA syndromes. Multiple pathophysiologic ...

Last Updated: 31 Dec 1969

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Distal renal tubular acidosis: a hereditary disease with an inadequate urinary H⁺ excretion.
 

Author(s): Laura Escobar, Natalia Mejía, Helena Gil, Fernando Santos

Journal: Nefrologia. 2013 ;33(3):289-96.

 

Distal renal tubular acidosis (dRTA) or RTA type I is characterised by reduced H+ hydrogen ions and ammonium urinary excretion. In children affected by dRTA there is stunted growth, vomiting, constipation, loss of appetite, polydipsia and polyuria, nephrocalcinosis, weakness ...

Last Updated: 31 Dec 1969

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis
 

Status: Recruiting

Condition Summary: Acidosis, Renal Tubular; Nephrolithiasis; Vacuolar Proton-Translocating ATPases

 

Last Updated: 24 Nov 2016

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