Incomplete distal renal tubular acidosis
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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Improving outcomes for patients with distal renal tubular acidosis: recent advances and challenges ahead
... of incomplete distal renal tubular acidosis in men with recurrent calcium ...to incomplete renal tubular acidosis type ...
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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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Familial distal renal tubular acidosis is associated with mutations in the red cell anion exchanger (Band 3, AE1) gene
... The 18 patients with dRTA reported here were members of four fam- ilies from Southeast England, all with at least two generations af- fected (see Fig. 1). Table I shows the data from which this diagnosis was made. ...
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A Novel Mutation in the Anion Exchanger 1 Gene Is Associated With Familial Distal Renal Tubular Acidosis and Nephrocalcinosis
... an incomplete form of dRTA was diagnosed in the fa- ther. The incomplete form of the disease probably rendered a milder clinical presentation without hy- percalciuria or bone loss as a result of the lack of ...
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A case of severe osteomalacia caused by Tubulointerstitial nephritis with Fanconi syndrome in asymptomotic primary biliary cirrhosis
... Herein, the authors present a unique case of osteomal- acia developed as a result of the rare renal involve- ment of asymptomatic PBC. As the prevalence of osteomalacia is increasing in aged societies where ...
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Renal tubular acidosis is highly prevalent in critically ill patients
... Parenterally administered solutions with unphysio- logically high chloride content may contribute to hyper- chloremic acidosis. This was observed in patients after rapid isotonic saline infusion while undergoing a ...
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The acid base regulation by renal proximal tubule
... Interestingly, Hennings et al. also proposed that a4 de- ficiency causes proximal tubule dysfunction, as these mice showed trafficking disorder of NaPi-IIa (sodium- phosphate transporter), proteinuria, phosphaturia and ...
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Inactive form of erythrocyte carbonic anhydrase B in patients with primary renal tubular acidosis
... Evidence was found for an inactive form of carbonic anhydrase type B in the erythrocytes of two children with primary renal tubular acidosis.. The addition of zinc chloride to hemolysate[r] ...
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THE RENAL RESPONSE TO CHRONIC RESPIRATORY ACIDOSIS
... The data presented above indicate that chronic respiratory acidosis results in an enhancement of renal tubular reabsorption of bicarbonate bound base to rates significantly greater than [r] ...
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Physiological and pathophysiological roles of the electrogenic Na+ HCO3– cotransporter NBCe1
... proximal renal tubular acidosis (pRTA) invariably associated with ocular ...isolated renal proximal tubules from W516X knockin mice, both NBCe1 activity and the rate of bicarbonate absorption ...
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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
... Although renal biopsy specimens could be used as a source of mRNA in inherited kidney diseases, renal biopsy is invasive and not necessary for most inherited kidney diseases, including ...
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Renal Tubular Acidosis in a Patient with Recurrent Metabolic Alkalosis
... Correspondingly, the percent of excretion of filtered bicarbonate also increased from 0.05% dur- ing alkalosis to 4% with development of metabolic acidosis and normalization of serum pot[r] ...
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Clinical review: Renal tubular acidosis – a physicochemical approach
... Sporadic forms, which are not yet characterized, also occur. However, most cases of proximal RTA are secondary and a host of associations have been described. Blockade of CA-4 by acetazolamide leads predictably to ...
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Tubulointerstitial nephritis in primary Sjögren syndrome: clinical manifestations and response to treatment
... impaired renal function (eGFR 28 ...A renal biopsy demonstrated TIN and she was commenced on MMF 2 g/day and a reducing course of prednisolone 30 ...Her renal function remained stable for 5 years but ...
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Making Physiology Work in Clinical Diagnosis
... inorganic acidosis is a decrease in renal potassium excretion, due to a lower amount of K+ in the renal tubular cells as in other cells, and therefore a reduced availability of distal ...
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ENAMEL HYPOPLASIA ASSOCIATED TO PROXIMAL RENAL TUBULAR ACIDOSIS: A CASE REPORT
... An 8-year-old girl diagnosed with proximal renal tubular acidosis was referred by her general dental practitioner to the Center for the Study and Care of Handicapped Patients. The patient was fully ...
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Molecular basis of ocular abnormalities associated with proximal renal tubular acidosis
... By immunological analysis of human and rat eyes, we demonstrate that both kidney type kNBC-1 and pancreatic type pNBC-1 transporters are present in the corneal endothelium, trabecular me[r] ...
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Nephrocalcinosis Is Associated With Renal Tubular Acidosis in Children With X-Linked Hypophosphatemia
... As we have recently reported, at diagnosis all patients had a normal serum calcium concentration, an inappropriately normal serum concen- tration of 1,25 (OH), vitamin D, for the degree [r] ...
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Evaluation of Failure to Thrive: Diagnostic Yield of Testing for Renal Tubular Acidosis
... bolic acidosis when RTA is under consideration and should be replaced by the bicarbonate VBG , which provides a more accurate measurement of the serum bicarbonate ...
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