Search PubMed⌕ Search

SEARCH · Search PubMed

Results for “ACIDOSIS, RENAL TUBULAR”

Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources
PubMed1987

[Physiopathology and clinical aspects of type IV renal tubular acidosis].

Type IV Renal tubular acidosis (RTA) is a syndrome whose physiopathological and clinical peculiarities have been described in the last decade. This syndrome can be associated with several pathological conditions characterized by reduced aldosterone activity of which hyporeninemic hypoaldosteronism is the most frequent. Type IV RTA originates in a defect in the distal nephron responsible for hydrogen and kalium ion secretion. Renal hyperchloremic acidosis and hyperkalemia are evident; the net acid secretion is decreased especially because of the urinary reduction in ammonia. Besides the behaviour of the spontaneous humoral parameters, the diagnosis of RTA is based on the tests that explore distal nephron acidification.

Acidosis, Renal Tubular↗
PubMed1998

Mutations in the chloride-bicarbonate exchanger gene AE1 cause autosomal dominant but not autosomal recessive distal renal tubular acidosis.

Primary distal renal tubular acidosis (dRTA) is characterized by reduced ability to acidify urine, variable hyperchloremic hypokalemic metabolic acidosis, nephrocalcinosis, and nephrolithiasis. Kindreds showing either autosomal dominant or recessive transmission are described. Mutations in the chloride-bicarbonate exchanger AE1 have recently been reported in four autosomal dominant dRTA kindreds, three of these altering codon Arg589. We have screened 26 kindreds with primary dRTA for mutations in AE1. Inheritance was autosomal recessive in seventeen kindreds, autosomal dominant in one, and uncertain due to unknown parental phenotype or sporadic disease in eight kindreds. No mutations in AE1 were detected in any of the autosomal recessive kindreds, and analysis of linkage showed no evidence of linkage of recessive dRTA to AE1. In contrast, heterozygous mutations in AE1 were identified in the one known dominant dRTA kindred, in one sporadic case, and one kindred with two affected brothers. In the dominant kindred, the mutation Arg-589/Ser cosegregated with dRTA in the extended pedigree. An Arg-589/His mutation in the sporadic case proved to be a de novo mutation. In the third kindred, affected brothers both have an intragenic 13-bp duplication resulting in deletion of the last 11 amino acids of AE1. These mutations were not detected in 80 alleles from unrelated normal individuals. These findings underscore the key role of Arg-589 and the C terminus in normal AE1 function, and indicate that while mutations in AE1 cause autosomal dominant dRTA, defects in this gene are not responsible for recessive disease.

Acidosis, Renal Tubular↗
PubMed2004

Regions of human kidney anion exchanger 1 (kAE1) required for basolateral targeting of kAE1 in polarised kidney cells: mis-targeting explains dominant renal tubular acidosis (dRTA).

Distal renal tubular acidosis (dRTA) is characterised by defective acid secretion by kidney alpha-intercalated cells. Some dominantly inherited forms of dRTA result from anion exchanger 1 (AE1) mutations. We have developed a stably transfected cell model for the expression of human kidney AE1 (kAE1) and mutant kAE1 proteins in MDCKI cells. Normal kAE1 was delivered to the plasma membrane of non-polarised cells and to the basolateral membrane of polarised cells. The AE1 N-glycan was processed to a complex form. Surprisingly, expression of kAE1 increased the permeability of the paracellular barrier of polarised MDCKI monolayers. All dominant dRTA mutations examined altered the targeting of kAE1 in MDCKI cells. The mutant proteins kAE1(R589H), kAE1(S613F) and kAE1(R901Stop) were retained in the ER in non-polarised cells, but the kAE1(R901Stop) protein was also present in late endosomes/lysosomes. The complex N-glycan of kAE1(R901Stop) was larger than that of normal kAE1. In polarised cells, the mutant kAE1(R901Stop) was mis-targeted to the apical membrane, while the kAE1(R589H) and kAE1(S613F) mutants did not reach the cell surface. These results demonstrate that dominant dRTA mutations cause aberrant targeting of kAE1 in polarised kidney cells and provide an explanation for the origin of dominant dRTA. Our data also demonstrate that the 11 C-terminal residues of kAE1 contain a tyrosine-dependent basolateral targeting signal that is not recognised by mu 1B-containing AP-1 adaptor complexes. In the absence of the N-terminus of kAE1, the C-terminus was not sufficient to localise kAE1 to the basolateral membrane. These results suggest that a determinant within the kAE1 N-terminus co-operates with the C-terminus for kAE1 basolateral localisation.

Acidosis, Renal Tubular↗
PubMed2002

The optimal dose of potassium citrate in the treatment of children with distal renal tubular acidosis.

BACKGROUND: Distal renal tubular acidosis (RTA) is a common cause of intractable calcium nephrolithiasis. In adults, the use of potassium citrate (PC) in distal RTA effectively decreases metabolic acidosis and the risk of calcium oxalate stone but it cannot decrease the risk of calcium phosphate stone. However, there is no report for the optimal dose of PC and the risk of calcium stone in distal RTA in children. OBJECTIVE: To evaluate the optimal dose of PC that minimizes the risk of calcium nephrolithiasis in children with distal RTA. METHOD: Prospective study PATIENTS: Children who have distal RTA and were followed-up for 4 months. Patients were studied in a control phase, 1 month of PC 2 mEq/kg/day, 2 months of PC 3 mEq/kg/day and 1 month of PC 4 mEq/kg/day. The urine specimens of 41 normal children were measured for the reference value of the parameters determining the risk of calcium stone. RESULTS: Eight children (mean age of 10 +/- 3.7 years, female : male = 6: 2) with distal RTA were studied during the control phase and after receiving PC 2 mEq/kg/day for I month. Treatment with PC 2 mEq/kg/day was not able to normalize serum bicarbonate and caused no significant change in the urine citrate/creatinine ratio, and activity production of calcium phosphate stone but it caused a significant decrease in the urine calcium/citrate ratio. Although PC 3 mEq/kg/day for I month normalized plasma bicarbonate, only this dose given for 2 months caused a significant increase in the urine citrate/creatinine ratio and urine calcium/ citrate ratio to values that were not different from normal children, while the activity production of calcium phosphate stone did not decrease to normal level. The effect of PC 4 mEq/kg/day was similar to that of 3 mEq/kg/day. CONCLUSION: Potassium citrate 3 mEq/kg/day for 2 months effectively normalized serum bicarbonate and decreased the risk of calcium oxalate stone but this treatment was theoretically unable to reduce the risk of calcium phosphate stone in children with distal RTA.

Acidosis, Renal Tubular↗
PubMed1989

Renal tubular acidosis.

Disordered renal acid-base handling can be associated with a wide variety of diseases. Although early diagnosis is important to avoid complications, renal tubular acidosis is frequently not recognized. The pathophysiology, clinical features, diagnosis and treatment of this group of disorders are described in the light of recent advances in our knowledge of renal tubular transport mechanisms.

Acidosis, Renal Tubular↗
PubMed1982

Incidence of radiographically evident bone disease, nephrocalcinosis, and nephrolithiasis in various types of renal tubular acidosis.

The syndrome of renal tubular acidosis has been categorized into three physiologic types that have different clinical findings and prognostic and therapeutic implications. We reviewed radiographs of the skeleton and kidneys in 92 patients (56 children and 36 adults) with renal tubular acidosis in order to determine whether the radiologic findings could be related to the type of syndrome. Forty-four patients had Type 1 renal tubular acidosis, 18 had Type 2, and 30 had Type 4. Evidence of skeletal abnormalities was uncommon (17 per cent) and was confined to patients who had the Type 2 disorder or azotemia. The children with Type 2 and skeletal abnormalities had rickets; the adults had osteopenia without pseudofractures. Nephrocalcinosis was evident in approximately one fourth of the group (29 per cent) and was restricted to patients with the Type 1 syndrome. In patients with Type 4, osteopenia was evident in 12 per cent, all of whom were azotemic. Our observations indicate that the radiographic manifestations of renal tubular acidosis are influenced by the physiologic type of renal tubular acidosis.

Acidosis, Renal Tubular↗
PubMed1982

Renal tubular acidosis: effects of etacrynic acid on renal acid and calcium excretion.

The fundamental disorder in renal tubular acidosis--the impaired excretions of hydrogen ions--can favourably be influenced by etacrynic acid (Hydromedin). Net acid and calcium excretion was measured in eight patients with incomplete RTA I and five controls before and during treatment with the diuretic: urinary pH was lowered and net acid excretion increased (p less than 0.05) with only slight rise in urinary calcium. Etacrynic acid appears to be particularly suitable for the long term treatment of patients with incomplete RTA I and calculous disease.

Acidosis, Renal Tubular↗
PubMed1982

Renal tubular acidosis: its types and role in renal calculosis.

In the light of published observations attention is called to the various forms of renal tubular acidosis (RTA), its etiology, pathologic significance, excretion of an "alkaline-persistent" urine in the presence of hyperchloremic acidosis, and to the possible consequences: nephrocalcinosis and renal calculosis. The frequency of incomplete RTA of various causes in calculosis is pointed out. The patient material of the authors and the results of phosphate therapy are presented, stressing the importance of alkalizing therapy and its prophylactic value.

Acidosis, Renal Tubular↗
PubMed1982

Distal renal tubular acidosis: pathogenesis and classification.

Distal renal tubular acidosis results from ineffective addition of hydrogen ions to the lumen of the distal nephron. The syndrome is manifested by hyperchloremic metabolic acidosis often associated with hypokalemia. More recently, it has been recognized that hyperkalemia rather than hypokalemia can be a dominant feature of some cases of distal renal tubular acidosis. It has been generally accepted that all cases of this syndrome ultimately resulted from a similar mechanism. The prevailing view was that the abnormality underlying distal renal tubular acidosis was that of inability to either generate or maintain a steep pH gradient across the distal nephron. Recent advances in our understanding of the process of distal acidification have provided evidence that different mechanisms can alter distal hydrogen ion secretion. In this article, the significance of the various indices of urinary acidification and their use in the characterization of the mechanism underlying distal renal tubular acidosis are revised. A classification of distal renal tubular acidosis on the basis of mechanism is presented. The importance of plasma potassium and renal potassium excretion in the evaluation of patients with distal renal tubular acidosis is emphasized.

Acidosis, Renal Tubular↗