Distal renal tubular acidosis
Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead
... incomplete distal renal tubular acidosis in men with recurrent calcium ...incomplete renal tubular acidosis type ...
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Distal renal tubular acidosis and severe hypokalemia: a case report and review of the literature
... metabolic acidosis, severe hypokalemia, persistent alkaline urine, and a positive urinary anion gap, suggestive of distal renal tubular ...and renal biopsy led to the diagnosis of ...
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Novel compound heterozygous ATP6V1B1 mutations in a Chinese child patient with primary distal renal tubular acidosis: a case report
... Background: Distal renal tubular acidosis (dRTA) is a heterogeneous disorder characterized by normal anion gap metabolic ...metabolic acidosis and growth ...metabolic acidosis, ...
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Distal renal tubular acidosis in mice that lack the forkhead transcription factor Foxi1
... While macro- and microscopic kidney development appear to proceed normally in mice that lack Foxi1, elec- tron microscopy reveals an altered ultrastructure of cells lining the distal nephron. Northern blot ...
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Hypokalemic quadriparesis and rhabdomyolysis as a rare presen-tation of distal renal tubular acidosis
... Renal tubular acidosis, first described in 1935, is a broad term applied to various transport defects in ...(proximal renal tubular acidosis or pRTA) or inability to secrete ...
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Validation of the difference in urine and blood carbon dioxide tension during bicarbonate loading as an index of distal nephron acidification in experimental models of distal renal tubular acidosis
... reduced distal nephron proton ...of distal renal tubular acidosis by measuring and comparing disequilibrium pH (a direct technique to detect H+ secretion in situ) with the pCO2 in the ...
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Studies on the Pathogenesis of Type I (Distal) Renal Tubular Acidosis as Revealed by the Urinary Pco2 Tensions
... (distal) renal tubular acidosis were not significantly greater than blood values (U- B Pco 2 = ...(distal) renal tubular acidosis is caused by failure of the cells ...
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Novel AE1 mutations in recessive distal renal tubular acidosis Loss of function is rescued by glycophorin A
... primary distal renal tubular acidosis (dRTA), are manifest by inappropriately alkaline (less than maximally acidified) urine in the presence of systemic metabolic acidosis (complete ...
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HIV Infection Itself may be a Cause of Hypokalemic Distal Renal Tubular Acidosis without Hypergammaglobulinemia
... Distal renal tubular acidosis (dRTA) is seen in the human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS) population in the setting of hypergammaglobulinemia and ...
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An in vitro splicing assay reveals the pathogenicity of a novel intronic variant in ATP6V0A4 for autosomal recessive distal renal tubular acidosis
... recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic ...
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Importance of early audiologic assessment in distal renal tubular acidosis
... recessive distal renal tubular acidosis (dRTA) is usually a severe disease of childhood, which most often presents as failure to thrive in infancy or systemic upset, with vomiting and/or ...
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Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
... the renal tubular cell, and there are several possible ways by which this might ...the tubular lumen by the mutant protein could neutralize the protons pumped by the apical H 1 -ATPase, so that there ...
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A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis
... metabolic acidosis, as shown in Table ...normal renal function, hypokalemia, hypercalciuria, hypocitraturia, hyper- uricosuria, and hyperchloremia, as shown in Table ...
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Relationship between rickets and incomplete distal renal tubular acidosis in children
... of acidosis present in the ...of tubular acidosis bicarbonate lower than 20 mmol/L may signify acidosis though mild and must be without any abnormal anion gap ...
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Sjogren’s Syndrome Presenting with Distal Renal Tubular Acidosis in Adolescence
... the renal tubules through TIN, in which infiltration of the kidney by plasma cells is a key feature similar to the lymphoplasmacytic infiltration of the salivary glands ...affected, distal renal ...
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A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis
... In renal complication of PBC, distal renal tubular acidosis (RTA) has been reported with the prevalence rates of 30 to 60 % generally in asymptomatic or latent condition [5, ...proximal ...
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Molecular physiology and genetics of Na+ independent SLC4 anion exchangers
... Understanding of the pathophysiology and genetics of SLC4 anion exchangers is gradually increasing through the study of families with the AE1 deficiency diseases of hereditary spherocytosis and distal renal ...
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CONCEPTUAL STUDY OF MASANUMASIK GARBHA VRIDDHI AS REFERENCE TO BRIHTRAYEES
... Managing Distal Renal Tubular Acidosis(Type1), Arthritis , Dry Eyes and Dry Mouth Secondary to Sjogren’s Syndrome Presenting with Hypokalaemic Paralysis ...
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Renal Tubular Acidosis with Muscle Paralysis
... I renal tubular acidosis also called the distal renal tubular acidosis 4 ...I renal tubular acidosis is characterized by a hyperchloremic metabolic ...
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The acid base regulation by renal proximal tubule
... D.M., Rungroj, N., Giersch, A.B., Morton, C.C., Axon, P.R., Akil, I., Al-Sabban, E.A., Baguley, D.M., Bianca, S., Bakkaloglu, A., Bircan, Z., Chauveau, D., Clermont, M.J., Guala, A., Hulton, S.A., Kroes, H., Li Volti, ...
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