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PubMed2003

A novel mutation in the anion exchanger 1 gene is associated with familial distal renal tubular acidosis and nephrocalcinosis.

OBJECTIVE: The anion exchanger gene (AE1) or band 3 encodes a chloride-bicarbonate (Cl(-)/HCO(3)(-)) exchanger expressed in the erythrocyte and in the renal alpha-intercalated cells involved in urine acidification. The purpose of the present study was to screen for mutations in the AE1 gene in 2 brothers (10 and 15 years of age) with familial distal renal tubular acidosis (dRTA), nephrocalcinosis, and failure to thrive. METHODS: AE1 mutations were screened by single-strand conformation polymorphism, cloning, and sequencing. RESULTS: A complete form of dRTA was confirmed in the 2 affected brothers and an incomplete form in their father. All 3 were heterozygous for a novel 20-bp deletion in exon 20 of the AE1 gene. This deletion resulted in 1 mutation in codon 888 (Ala-888-->Leu) followed by a premature termination codon at position 889, truncating the protein by 23 amino acids. As band 3 deficiency might lead to spherocytic hemolytic anemia or ovalocytosis, erythrocyte abnormalities were also investigated, but no morphologic changes in erythrocyte membrane were found and the osmotic fragility test was normal. CONCLUSIONS: A novel mutation in the AE1 gene was identified in association with autosomal dominant dRTA. We suggest that RTA be considered a diagnostic possibility in all children with failure to thrive and nephrocalcinosis.

Acidosis, Renal Tubular↗
PubMedDate not supplied

Thalassemia B with distal renal tubular acidosis: a previously undescribed association.

An infant with beta thalassemia major and distal renal tubular acidosis is described. Screening of forty patients with beta thalassemia major revealed no evidence of renal tubular acidosis. Although the possibility of coincidence cannot be completely excluded, we suggest that beta thalassemia major should be added to the list of conditions associated with distal renal tubular acidosis.

Acidosis, Renal Tubular↗
PubMed1976

Lymphocyte cytotoxicity for kidney cells in renal tubular acidosis of autoimmune liver disease.

Sensitisation to a renal tubular antigen, Tamm-Horsfall glycoprotein, has been shown to be common in patients with renal tubular acidosis complicating autoimmune liver disease, and it has been suggested that this immune reaction, by damaging renal tubular cells, might be responsible for the acidification defect. The lymphocytes from 10 out of 13 patients with chronic active hepatitis or primary biliary cirrhosis and an associated renal tubular acidosis were shown to be cytotoxic for a kidney cell line known to secrete Tamm-Horsfall glycoprotein. The cytotoxic reaction was blocked by this antigen, but not by two other proteins, indicating that sensitisation to the renal glycoprotein was the likely cause of the target cell damage. Significant reduction in cytotoxicity after the addition of aggregated IgG suggested that the reaction was of the antibody-dependent cell-mediated type. These results, together with the finding of antigenic material in the surface membrane of liver cells that cross reacts immunologically with Tamm-Horsfall glycoprotein, provide an explanation for the association between chronic liver disease and renal tubular dysfunction.

Acidosis, Renal Tubular↗
PubMed1977

[Clinical demonstrations: 1. Renal tubular acidosis; 2. Breast neoplasm with bone metastases in a man; 3. Thrombotic thrombocytopenic purpura; 4. Precocious eclampsia in a 22 years old primipara].

Four patients with metabolic and/or circulatory failure are described. The clinical, biological and radiologic features of reversible renal failure with renal tubular acidosis are presented. A case of male breast carcinoma is discussed with reference to the effect of steroids on the hormonal receptors at the malignant cell. The pathophysiology of thrombotic thrombocytopenic purpura and its treatment (splenectomy and platelet aggregation inhibitors) are discussed. An overview of eclampsia and its relationship to underlying kidney disease is presented. It may be concluded that a metabolic and/or ischemic imbalance interferes with the normal activity of the reticular substance and the brainstem, which normally maintain the state of consciousness.

Acidosis, Renal Tubular↗
PubMed1992

Renal tubular acidosis in primary Sjögren's syndrome.

Renal tubular acidosis (RTA) is a frequent extraglandular manifestation of Sjögren's syndrome; however, no distinction on the incidence of this renal tubular defect between primary and secondary Sjögren's syndrome has been reported. This study was undertaken in order to define the frequency of RTA and the possible pathogenetic mechanisms in a group of 21 randomly selected primary Sjögren's syndrome patients. RTA was found in 7 (33%) patients. The incomplete type of the disorder was the most frequent. It seems that the etiology of RTA is multifactorial. Renal excretion of monoclonal proteins and the immunologically-induced interstitial inflammation are the main possible factors of this renal tubular defect.

Acidosis, Renal Tubular↗
PubMed2006

Proximal renal tubular acidosis and ocular pathology: a novel missense mutation in the gene (SLC4A4) for sodium bicarbonate cotransporter protein (NBCe1).

PURPOSE: The electrogenic Na+/HCO3- cotransporter (NBCe1) plays a major role in renal bicarbonate absorption via proximal tubules and therefore is crucial for maintaining normal blood pH. The human gene for NBCe1 (SLC4A4) produces two major transcripts by alternative promoter usage (kNBCe1, originally cloned from kidney and pNBCe1, pancreatic/general form). Though rare, recessive SLC4A4 mutations have been reported in patients with proximal renal tubular acidosis, short stature, and ocular pathology. A 27-year-old male presented with these findings. The purpose of this study was to investigate the molecular pathology responsible for this patient's clinical findings. METHODS: A comprehensive ophthalmic examination was performed, detailed ocular and systemic medical histories were taken and past medical records were obtained. Mutation screening was performed by using direct PCR sequencing of SLC4A4 exons and flanking intronic regions. Functional characterization of the mutation was made by expressing the wild-type and mutant NBCe1 proteins in Xenopus oocytes. RESULTS: We identified a novel, homozygous, missense SLC4A4 mutation (Leu522Pro in kNBCe1) in our patient who had pRTA, short stature, enamel hypoplasia, and bilateral ocular disease (cataract, glaucoma, and band keratopathy). The patient also had a medical history of ataxia, migraine with transient hemiparesis attacks, and slight hypothyroidism. The mutant RNA failed to induce electrogenic transport activity. The L522P-protein was not effectively transported to the oocyte membrane and thus was unable to act as a transmembrane transporter. CONCLUSIONS: This novel mutation increases our understanding of the structural/functional aspects of the NBCe1 protein and the molecular basis of the multiorgan pathologies associated with its defects.

Acidosis, Renal Tubular↗
PubMed1980

[Distal form of renal tubular acidosis and nephrolithiasis].

The distal form of the renal tubular acidosis is a causal factor of the formation of phosphate calculi which is not tao be neglected. Pathophysiology, diagnostics and therapy of the renal tubular acidosis are described under the point of view of the metaphylaxis of urinary calculi. The paraclinical findings of 7 patients with distal renal tubular acidosis and nephrolithiasis and nephrocalcinosis, respectively, are discussed.

Acidosis↗
PubMed2005

Renal tubular acidosis and severe hypophosphataemia due to toluene inhalation.

A 21-year-old woman developed severe muscle paralysis after sniffing toluene-containing thinner solution for 2 weeks. Her serum chemistries revealed severe hypokalaemia and a normal anion gap hyperchloraemic metabolic acidosis secondary to renal tubular acidosis. Her initial presentation mimicked hypokalaemic periodic paralysis, but toxicology screening of her blood and urine revealed the correct diagnosis of toluene poisoning. Her electrolyte and acid-base status returned to normal 4 days after cessation of toluene sniffing. On another occasion, apart from renal tubular acidosis, the patient also developed severe hypophosphataemia with the phosphate level decreasing to 0.15 mmol/L. Hypophosphataemia with such a low phosphate level after toluene poisoning has been rarely reported in the literature. Toluene inhalation can result in multiple electrolyte and acid-base abnormalities, and should be considered in the diagnosis of any young patient who presents with unexplained hypokalaemia and normal anion gap metabolic acidosis.

Acidosis, Renal Tubular↗
PubMed2003

High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis.

Southeast Asian ovalocytosis (SAO) is a red blood cell abnormality common in malaria-endemic regions and caused by a 27 nt deletion of the band 3 protein gene. Since band 3 protein, also known as anion exchanger 1, is expressed in renal distal tubules, the incidence of SAO was examined in distal renal tubular acidosis (dRTA) in Malays in Kelantan, Malaysia. Twenty-two patients with dRTA and 50 healthy volunteers were examined for complication of SAO by both morphological and genetic analyses. SAO was identified in 18 of the 22 dRTA patients (81.8%), but only two of the 50 controls (4%). The incidence of SAO was significantly high in those with dRTA (p<0.001), indicating a dysfunctional role for band 3 protein/anion exchanger 1 in the development of dRTA.

Acidosis, Renal Tubular↗
PubMed1980

[Urinary-blood delta PCO2 in renal tubular acidosis (author's transl)].

A state of renal tubular acidosis has been produced in rats by the administration of sodium maleate or acetazolamide (proximal tubular acidosis) and of lithium chloride of amiloride (distal tubular acidosis). During progressive alkaline diuresis, delta PCO2 (urine minus blood PCO2) increases significantly in rats presenting proximal tubular acidosis. Delta PCO2 is significantly depressed in rats presenting distal tubular acidosis. In well defined conditions of bicarbonate or phosphate excretion, delta PCO2 is a valuable index of distal ion secretion.

Acetazolamide↗
PubMed1996

New insights into the pathogenesis of distal renal tubular acidosis.

The diagnosis and classification of distal renal tubular acidosis (distal RTA) have traditionally been made on the basis of the renal response to physiologic maneuvers, providing only indirect information on the underlying pathophysiology. In the past several years significant advances have been made in our understanding of the molecular basis of distal H+/HCO3- secretion and absorption, at the level of individual transporters. With these advances, a new era of classifying disorders of distal acidification at the molecular level has arrived. In this article we review the cellular and molecular basis of normal acidification mechanisms in the distal nephron. We also review the recent information on the molecular basis of derangements in these mechanisms which lead to distal RTA.

Acidosis, Renal Tubular↗
PubMed1975

Renal tubular acidosis during therapy for diabetic ketoacidosis.

A young woman presented with typical diabetic ketoacidosis. Five hours after insulin had been given hyperchloremic metabolic acidosis developed. This could not be attributed to gastrointestinal loss of bacarbonate, ingestion of HCI or carbonic anhydrase inhibitor, or the administered fluids and electrolytes. The combination of hyperchloremic metabolic acidosis and a urine pH of 5.6 during acidemia prompted specific studies that established the presence of disorders of renal acidification. A transient defect of hydrogen ion secretion in the distal nephron was suggested by the decrease in urine-blood Pco-2 gradient after administration of sodium bicarbonate. Proximal renal tubular acidosis was indicated by the reduced bicarbonate threshold that persisted for approximately 7 weeks.

Acid-Base Equilibrium↗
PubMed1998

[Renal tubular acidosis type II secondary to gamma-light chain excretion in an elderly patient with multiple myeloma].

A 73-year-old woman was admitted to the geriatric ward of the University of Tokyo Hospital with anemia, osteepeina, and renal dysfunction. Although symptoms typical of multiple myeloma such as punched-out lesions and hyperproteinemia were not found, protein electrophoresis revealed that lambda type Bence-Jones protein was excreted in urine. Multiple myeloma was diagnosed. Furthermore, renal dysfunction was accompanied renal tubular acidosis type II (proximal type). Renal dysfunction in patient with multiple myeloma in usually caused by so-called myeloma casts in the distal tubules, but renal tubular acidosis type II is rarely observed. It is possible that injury of the proximal renal tubular eithelium by Bence-Jones protein resulted in renal tubular acidosis type II in this patient.

Acidosis, Renal Tubular↗
PubMed1994

[Clinical spectrum of distal renal tubular acidosis and its study with bicarbonate loading].

Authors attempted to review the clinical spectrum of distal renal tubular acidosis on the basis of analysing the records of 11 patients. Distal renal tubular acidosis was associated with chronic renal failure of different severity and with tubulointerstitial diseases in the two-third of patients in whom histologic studies were also performed. The disorders caused in certain cases hypokalemia and hyperkalemia in the others, the concentrating insufficiency was characteristic leading in exceptional cases to nephrogenic diabetes insipidus and the clinical picture was accompanied also by osteomalacia. Authors describe their own method of bicarbonate loading, obtaining by its use very high values of 78.65 +/- 11.28 (p < 0.005) mmHg of urine minus blood pCO2 in 6 healthy subjects. On the other hand, in 6 distal renal tubular acidosis patients no such difference in the pCO2 values could be found. The knowledge of the clinical spectrum of the distal renal tubular acidosis may enhance the recognition and treatment of the disorder.

Acidosis, Renal Tubular↗
PubMed2000

Inherited renal tubular acidosis.

The past few years have witnessed great progress in elucidating the molecular basis of inherited renal tubular acidosis. Consistent with the physiologically defined importance of multiple gene products in urinary acidification, heritable renal tubular acidosis is genetically heterogeneous. Autosomal dominant distal renal tubular acidosis has been associated with a small number of mutations in the AE1 Cl-/HCO3- exchanger although the pathophysiologic mechanisms behind these mutations remain unclear. Rarely, autosomal recessive distal RTA is caused by homozygosity or compound heterozygosity for the loss-of-function mutation AE1 G701D. A larger proportion, often accompanied by hearing loss, is associated with mutations in the ATP6B1 gene encoding the 58 kDa B1 subunit of the vacuolar H+-ATPase. Mutations in the gene encoding the Na+/HCO3- cotransporter, NBC1, have recently been identified in proximal renal tubular acidosis with corneal calcification.

Acidosis, Renal Tubular↗
PubMed1995

Renal tubular acidosis complicated with hypokalemic periodic paralysis.

Three Chinese girls with hypokalemic periodic paralysis secondary to different types of renal tubular acidosis are presented. One girl has primary distal renal tubular acidosis complicated with nephrocalcinosis. Another has primary Sjögren syndrome with distal renal tubular acidosis, which occurs rarely with hypokalemic periodic paralysis in children. The third has an isolated proximal renal tubular acidosis complicated with multiple organ abnormalities, unilateral carotid artery stenosis, respiratory failure, and consciousness disturbance. The diagnostic evaluation and emergent and prophylactic treatment for these three types of renal tubular acidosis are discussed.

Acidosis, Renal Tubular↗