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PubMed2006

[Nephrocalcinosis due to renal tubular acidosis in two brothers].

A 25-year-old man was admitted to our hospital because of left lumbago. An abdominal X-ray film demonstrated multiple calculi in the medullary positions of both kidneys and an impacted calculus in the left ureter. He was diagnosed with bilateral nephrocalcinosis and nerve deafness due to distal renal tubular acidosis (RTA) in childhood and was treated with alkali agents for several years. Extracorporeal shock wave lithotripsy was performed successfully against the left ureteral calculus. His older brother had also been diagnosed with RTA and nephrocalcinosis at the age of 2 years and 6 months. Nephrocalcinosis due to RTA associated with nerve deafness in brothers is rarely reported.

Acidosis, Renal Tubular↗
PubMedDate not supplied

Osteopetrosis, renal tubular acidosis without urinary concentration abnormality, cerebral calcification and severe mental retardation in three Turkish brothers.

Deficiency of carbonic anhydrase II (CA II) isoenzyme produces metabolic disorders of bone, kidney and brain. In this report we describe the clinical, radiological, pathological and genetic findings in three brothers who were affected with the autosomal recessive syndrome of osteopetrosis, renal tubular acidosis (RTA) and cerebral calcification. The RTA was hybrid type, but urinary concentration ability was intact. Additional features were severe mental retardation, stunted growth, microcephaly, dental malocclusion, high-arched palate, and broad thumbs. Previous reported patients with this syndrome were predominantly from the Middle East and Mediterranean region. This is the first report with CA II deficiency from the Turkish population. The presence of mental retardation and relative infrequency of skeletal fractures in our patients resembles the clinical course of patients with the Arabic mutation of the CA II gene, but this mutation was not found in our patients.

Acidosis, Renal Tubular↗
PubMed1999

Distal renal tubular acidosis and high urine carbon dioxide tension in a patient with southeast Asian ovalocytosis.

Southeast Asian ovalocytosis (SAO) is the best-documented disease in which mutation in the anion exchanger-1 (AE1) causes decreased anion (chloride [Cl-]/bicarbonate [HCO3-]) transport. Because AE1 is also found in the basolateral membrane of type A intercalated cells of the kidney, distal renal tubular acidosis (dRTA) might develop if the function of AE1 is critical for the net excretion of acid. Studies were performed in a 33-year-old woman with SAO who presented with proximal muscle weakness, hypokalemia (potassium, 2.7 mmol/L), a normal anion gap type of metabolic acidosis (venous plasma pH, 7. 32; bicarbonate, 17 mmol/L; anion gap, 11 mEq/L), and a low rate of ammonium (NH4+) excretion in the face of metabolic acidosis (26 micromol/min). However, the capacity to produce NH4+ did not appear to be low because during a furosemide-induced diuresis, NH4+ excretion increased almost threefold to a near-normal value (75 micromol/L/min). Nevertheless, her minimum urine pH (6.3) did not decrease appreciably with this diuresis. The basis of the renal acidification defect was most likely a low distal H+ secretion rate, the result of an alkalinized type A intercalated cell in the distal nephron. Unexpectedly, when her urine pH increased to 7.7 after sodium bicarbonate administration, her urine minus blood carbon dioxide tension difference (U-B Pco2) was 27 mm Hg. We speculate that the increase in U-B Pco2 might arise from a misdirection of AE1 to the apical membrane of type A intercalated cells.

Acidosis, Renal Tubular↗
PubMed1987

Renal tubular acidosis in two horses: diagnostic studies.

An 11-year-old Quarter Horse mare and a 2-year-old Quarter Horse colt with clinical diagnoses of renal tubular acidosis (RTA) were donated to the University of California Veterinary Medical Teaching Hospital. A series of diagnostic tests was performed in an attempt to characterize the type and cause of RTA in these horses. Endogenous creatinine clearance and sodium sulfanilate clearance were within reference ranges; thus, no abnormality of glomerular function was detected. To assess renal tubular function in response to acid loading, each horse was given 0.1 g of NH4Cl/kg of body weight via nasogastric tube in 6 L of water. Urine acidification in response to the oral acid load was less than that observed in control horses. The urinary clearance ratio for sodium also was found to be greater for the principals than for the controls. These findings supported a diagnosis of RTA that closely resembled type 1 or distal RTA. In an attempt to determine the cause of RTA, renal ultrasonography, renal biopsy, and a mating study were performed. No abnormalities were identified, and the cause of RTA in these cases remained unknown.

Acidosis, Renal Tubular↗
PubMed2002

Secretory-defect distal renal tubular acidosis is associated with transporter defect in H(+)-ATPase and anion exchanger-1.

Recent progress in molecular physiology has permitted us to understand pathophysiology of various channelopathies at a molecular level. The secretion of H(+) from alpha-intercalated cells is mediated by apical plasma membrane H(+)-ATPase and basolateral plasma membrane anion exchanger-1 (AE1). Studies have demonstrated the lack of H(+)-ATPase immunostaining in the intercalated cells in a few patients with distal renal tubular acidosis (dRTA). Mutations in H(+)-ATPase and AE1 gene have recently been reported to cause dRTA. This study extends the investigation of the role of transporter defect in dRTA by using immunohistochemical methods. Eleven patients with hyperchloremic metabolic acidosis were diagnosed functionally to have secretory-defect dRTA: urine pH >5.5 during acidemia, normokalemia or hypokalemia, and urine-to-blood pCO(2) <25 mmHg during bicarbonaturia. Renal biopsy tissue was obtained from each patient, and immunohistochemistry was carried out using antibodies to H(+)-ATPase and AE1. For comparison, renal tissues from the patients who had no evidences of distal acidification defect by functional studies were used: four with glomerulopathy or tubulointerstitial nephritis (disease controls) and three from nephrectomized kidneys for renal cell carcinoma (normal controls). The H(+)-ATPase immunoreactivity in alpha-intercalated cells was almost absent in all of the 11 patients with secretory-defect dRTA. In addition, 7 of 11 patients with secretory-defect dRTA were accompanied by negative AE1 immunoreactivity. In both disease controls and normal controls, the immunoreactivity of H(+)-ATPase and AE1 was strong in alpha-intercalated cells. In conclusion, significant defect in acid-base transporters is the major cause of secretory-defect dRTA.

Acidosis, Renal Tubular↗
PubMed2006

Expression and interaction of two compound heterozygous distal renal tubular acidosis mutants of kidney anion exchanger 1 in epithelial cells.

Kidney AE1 (kAE1) is a glycoprotein responsible for the electroneutral exchange of chloride for bicarbonate, promoting the reabsorption of bicarbonate into the blood by alpha-intercalated cells of the collecting tubule. Mutations occurring in the gene encoding kAE1 can induce defects in urinary acidification resulting in distal renal tubular acidosis (dRTA). We expressed two kAE1 dRTA mutants, A858D, a mild dominant mutation, and DeltaV850, a recessive mutation, in epithelial Madin-Darby canine kidney (MDCK) cells. Individuals heterozygous with wild-type (WT) kAE1 either did not display any symptoms of dRTA (DeltaV850/WT) or displayed a mild incomplete form of dRTA (A858D/WT), while compound heterozygotes (DeltaV850/A858D) had dRTA. We found that the A858D mutant was slightly impaired in the endoplasmic reticulum (ER) exit but could target to the basolateral membrane of polarized MDCK cells. Despite an altered binding to an inhibitor affinity resin, anion transport assays showed that the A858D mutant was functional at the cell surface. The DeltaV850 mutant showed altered binding to the affinity resin but was predominantly retained in the ER, resulting in undetectable AE1 expression at the basolateral membrane. When coexpressed in MDCK cells, the WT protein, and to a lesser extent the A858D mutant, enhanced the cell surface expression of the DeltaV850 mutant. The DeltaV850 mutant also affected the cell surface expression of the A858D mutant. Compound heterozygous (A858D/DeltaV850) patients likely possess a decreased amount of functional anion exchangers at the basolateral membrane of their alpha-intercalated cells, resulting in impaired bicarbonate transport into the blood and defective acid transport into the urine.

Acidosis, Renal Tubular↗
PubMed1987

[Carbonic anhydrase II deficiency: osteopetrosis, renal tubular acidosis and intracranial calcifications. Review of the literature and 3 cases].

Three children in two unrelated families are affected by carbonic anhydrase II (CA II) deficiency. This disease has been reported in 27 other patients to date; the study of the pedigrees indicates that it is supported by autosomal recessive inheritance. All the patients have a very high CA I/CA II ratio (greater than 10(4) versus 6 to 10 in controls) and carrier detection is possible in obligate heterozygotes (CA I/CA II = 12 to 17). The clinical presentation consists in renal tubular acidosis, osteopetrosis and cerebral calcifications. The long term follow-up of these patients shows that the prognosis is mainly of neurological and mental expression.

Acidosis, Renal Tubular↗
PubMed2003

[Bartter syndrome or renal tubular acidosis?].

In normotensive patients (pts) with apparently inherited electrolyte disorder characterized by hypokalemia and with metabolic alkalosis the suspicion is usually pronounced on the diagnosis of Bartter syndrome or Gitelman syndrome. During the last two years three pts were admitted to our nephrologic unit of the 1st Internal Department of the 1st Medical School who presented with hypokalemia, metabolic alkalosis and alkalic urine and were followed previously under working diagnosis of (incomplete) renal tubular acidosis. In the article we give the description of the clinical picture in the three pts diagnosed as Bartter/Gitelman syndrome. In conclusion--the problems of differential diagnosis in pts with such a complex disorder of acidobase balance are discussed and new diagnostic approach with mutational studies is suggested.

Acidosis, Renal Tubular↗
PubMed2006

Severe hyperkalemic type 4 renal tubular acidosis after kidney transplantation: a case report.

BACKGROUND: Hyperkalemia after transplantation is a common event, occurring in up to 70% of patients. It is usually asymptomatic but sometimes manifests as muscle weakness or cardiac arrhythmias. METHODS: Case report. RESULTS: At 102 days after a second cadaveric kidney transplantation, a 15-year-old boy, was admitted to the emergency room with severe muscle weakness. His examinations showed a serum potassium of 9.8 mEq/L; blood pH 7.1; serum bicarbonate 7.6 mmol/L; and creatinine 2.5 mg/dL. He was initially treated with sodium bicarbonate, calcium gluconate, and furosemide. Subsequent investigation showed hyperchloremic metabolic acidosis, urinary pH <5.5, positive urinary anion gap, reduced transtubular potassium gradient (TTKG, 1.5) and low levels of aldosterone (0.7 ng/mL), suggesting the presence of type 4 renal tubular acidosis (RTA). Other causes of hyperkalemia were excluded in the present case. Serum levels of potassium returned to normal when fludrocortisone was added to the bicarbonate supplementation. This case of severe hyperkalemic secondary to type 4 RTA after kidney transplantation only responded to the combination of alkali and mineralocorticoid therapies.

Acidosis, Renal Tubular↗
PubMed2004

Coeliac disease associated with Sjögren's syndrome, renal tubular acidosis, primary biliary cirrhosis and autoimmune hyperthyroidism.

Although coeliac disease may occur in patients affected by another immune-mediated disorder, its coexistence with multiple autoimmune diseases is not frequently described. We report here the case of a 45-year-old woman referred to our centre because of diarrhoea and weight loss, who had already received a diagnosis of primary biliary cirrhosis, Sjögren's syndrome and renal tubular acidosis. Following the development of diarrhoea we established the diagnosis of coeliac disease, based on the presence of anti-endomysium antibodies and a compatible duodenal biopsy. Despite gluten withdrawal she went on to develop an autoimmune hyperthyroidism. The patient tested positive for HLA DRB1*03 and DQB1*02. The association is unlikely to be casual and may be explained by autoimmune mechanisms, genetic susceptibility and favouring environmental factors commonly shared by the diseases of our patient.

Acidosis, Renal Tubular↗
PubMed1998

Novel AE1 mutations in recessive distal renal tubular acidosis. Loss-of-function is rescued by glycophorin A.

The AE1 gene encodes band 3 Cl-/HCO3- exchangers that are expressed both in the erythrocyte and in the acid-secreting, type A intercalated cells of the kidney. Kidney AE1 contributes to urinary acidification by providing the major exit route for HCO3- across the basolateral membrane. Several AE1 mutations cosegregate with dominantly transmitted nonsyndromic renal tubular acidosis (dRTA). However, the modest degree of in vitro hypofunction exhibited by these dRTA-associated mutations fails to explain the disease phenotype in light of the normal urinary acidification associated with the complete loss-of-function exhibited by AE1 mutations linked to dominant spherocytosis. We report here novel AE1 mutations linked to a recessive syndrome of dRTA and hemolytic anemia in which red cell anion transport is normal. Both affected individuals were triply homozygous for two benign mutations M31T and K56E and for the loss-of-function mutation, G701D. AE1 G701D loss-of-function was accompanied by impaired trafficking to the Xenopus oocyte surface. Coexpression with AE1 G701D of the erythroid AE1 chaperonin, glycophorin A, rescued both AE1-mediated Cl- transport and AE1 surface expression in oocytes. The genetic and functional data both suggest that the homozygous AE1 G701D mutation causes recessively transmitted dRTA in this kindred with apparently normal erythroid anion transport.

Acidosis, Renal Tubular↗
PubMed2002

Autosomal recessive distal renal tubular acidosis caused by G701D mutation of anion exchanger 1 gene.

Anion exchanger 1 (AE1 or band 3), encoded by the AE1 or SLC4A1 gene, regulates chloride-bicarbonate exchange in erythrocytes and alpha-intercalated cells of the distal nephron. Defects of AE1 at the basolateral membrane of alpha-intercalated cells may result in the failure of hydrogen ion secretion at the apical membrane, leading to distal renal tubular acidosis (dRTA). Abnormalities of the AE1 gene were previously reported to be associated with autosomal dominant dRTA. However, recent studies of Thai dRTA families have shown that mutations in this gene result in autosomal recessive (AR) dRTA, giving rise to the postulation that AE1 gene mutations causing AR dRTA might be found commonly in Thai pediatric patients with dRTA. We performed a study of the AE1 gene using DNA linkage, polymerase chain reaction single-strand conformation polymorphism, restriction endonuclease HpaII digestion, and DNA sequence analyses in eight families involving 12 Thai children with dRTA, shown by abnormal urinary acidification using a short acid-loading test, as well as among their family members. Seven patients with dRTA from five families had the same homozygous missense G701D mutation of the AE1 gene. Their parents or siblings heterozygous for the AE1 G701D mutation were clinically normal and did not have abnormal urinary acidification, although a heterozygous sibling in one family had abnormal urinary acidification. Results of this and previous studies show that a homozygous AE1 G701D mutation causes AR dRTA and is a common molecular defect among Thai pediatric patients with dRTA.

Acidosis, Renal Tubular↗
PubMed1972

Primary hyperparathyroidism and proximal renal tubular acidosis: report of two cases.

Two cases of primary hyperparathyroidism due to single parathyroid adenomas presented with the additional feature of hyperchloremic acidosis. The defect in urinary acidification responsible was not of the distal or gradient-limited type since both patients could lower urine pH adequately. However, there was a defect of bicarbonate reabsorption, an abnormality referred to as the proximal or rate-limited type of renal tubular acidosis. It is suggested that this defect represents an exaggeration of the physiological effect of parathormone on bicarbonate reabsorption and may be responsible for the frequent finding of hyperchloremia in association with primary hyperparathyroidism as well as for the urinary bicarbonate-wasting associated with a variety of causes of secondary hyperparathyroidism.

Acidosis, Renal Tubular↗
PubMed1987

Clinical features and treatment of renal tubular acidosis in two horses.

Two horses were admitted separately for evaluation and treatment of profound hyperchloremic metabolic acidosis without azotemia. One, an 11-year-old Quarter Horse mare, had been depressed and ataxic for 2 days. The other, a 2-year-old Quarter Horse colt, had a 6-week history of depression, anorexia, and weight loss. Both horses responded to fluid and electrolyte therapy, but required daily oral administration of sodium bicarbonate for maintenance. In each case, the diagnosis was renal tubular acidosis.

Acidosis, Renal Tubular↗
PubMed2006

Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity.

V-ATPases are multimeric proton pumps. The 100-kDa "a" subunit is encoded by four isoforms (a1-a4) in mammals and two (Vph1p and Stv1p) in yeast. a3 is enriched in osteoclasts and is essential for bone resorption, whereas a4 is expressed in the distal nephron and acidifies urine. Mutations in human a3 and a4 result in osteopetrosis and distal renal tubular acidosis, respectively. Human a3 (G405R and R444L) and a4 (P524L and G820R) mutations were recreated in the yeast ortholog Vph1p, a3 (G424R and R462L), and a4 (W520L and G812R). Mutations in a3 resulted in wild type vacuolar acidification and growth on media containing 4 mM ZnCl2, 200 mM CaCl2, or buffered to pH 7.5 with V-ATPase hydrolytic and pumping activity decreased by 30-35%. Immunoblots confirmed wild type levels for V-ATPase a, A, and B subunits on vacuolar membranes. a4 G812R resulted in defective growth on selective media with V-ATPase hydrolytic and pumping activity decreased by 83-85% yet with wild type levels of a, A, and B subunits on vacuolar membranes. The a4 W520L mutation had defective growth on selective media with no detectable V-ATPase activity and reduced expression of a, A, and B subunits. The a4 W520L mutation phenotypes were dominant negative, as overexpression of wild type yeast a isoforms, Vph1p, or Stv1p, did not restore growth. However, deletion of endoplasmic reticulum assembly factors (Vma12p, Vma21p, and Vma22p) partially restored a and B expression. That a4 W520L affects both Vo and V1 subunits is a unique phenotype for any V-ATPase subunit mutation and supports the concerted pathway for V-ATPase assembly in vivo.

Acidosis, Renal Tubular↗
PubMed1991

[Distal renal tubular acidosis in patients with Wilson's disease].

Renal affection is part of the clinical picture of developed Wilson's disease. The most frequent sign of affection of the distal nephron is distal tubular acidosis (DRTA), more frequently its latent form with a normal systemic pH, but inability to reduce the urinary pH below 5.5 after an acid load. More detailed assessment of the type of this disorder was not made so far. To elucidate in greater detail the pathogenesis of DRTA in Wilson's disease the authors examined renal acidification in 13 patients with bioptically verified Wilson's disease, using three acidification tests: 1) the test involving oral administration of calcium chloride (CaCl2), 2) the test involving infusion of sodium sulphate (Na2SO4) and 3) the test using an infusion of NaHCO3. In none of the examined patients with Wilson's disease manifest (complete) DRTA was found with systemic acidosis, however, in five patients latent (incomplete) DRTA was revealed, i.e. after administration of CaCl2 the pH of urine did not decline below 5.5. Patients with Wilson's disease and DRTA differed from patients with Wilson's disease and normal renal acidification by the age at the time of assessment of the diagnosis (30.4 +/- 3.6 vs. 20.75 +/- 2.14 years, p less than 0.02) and the duration of the disease (i.e. the time from assessment of the diagnosis to the acidification examination: 4.6 +/- 4.86 vs. 15.38 +/- 2.40 years, p less than 0.01). In three of four patients with Wilson's disease and DRTA who were given Na2SO4, after its administration the pH of urine did not decline below 5.2.(ABSTRACT TRUNCATED AT 250 WORDS)

Acidosis, Renal Tubular↗
PubMed2004

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, electron microscopy reveals an altered ultrastructure of cells lining the distal nephron. Northern blot analyses, cRNA in situ hybridizations, and immunohistochemistry demonstrate a complete loss of expression of several anion transporters, proton pumps, and anion exchange proteins expressed by intercalated cells of the collecting ducts, many of which have been implicated in hereditary forms of distal renal tubular acidosis (dRTA). In Foxi1-null mutants the normal epithelium with its two major cell types - principal and intercalated cells - has been replaced by a single cell type positive for both principal and intercalated cell markers. To test the functional consequences of these alterations, Foxi1(-/-) mice were compared with WT littermates in their response to an acidic load. This revealed an inability to acidify the urine as well as a lowered systemic buffer capacity and overt acidosis in null mutants. Thus, Foxi1(-/-) mice seem to develop dRTA due to altered cellular composition of the distal nephron epithelium, thereby denying this epithelium the proper gene expression pattern needed for maintaining adequate acid-base homeostasis.

Acidosis, Renal Tubular↗
PubMed1992

[Tubulo-interstitial nephritis (TIN) with no glomerular lesions, distal renal tubular acidosis and asteatosis cutis in a patient with systemic lupus erythematosus (SLE): a case report].

We report a 28-year-old woman with systemic lupus erythematosus (SLE) who showed tubulo-interstitial nephritis (TIN) without any glomerular changes. In 1990, she was admitted to our hospital, complaining of anorexia, vomiting and persistent high fever. Laboratory findings showed proteinuria, pancytopenia, hypocomplementemia and positive for antinuclear antibody, anti-DNA antibody, anti-Sm antibody, anti-SSA antibody and anti-SSB antibody. We made a diagnosis of SLE. Furthermore, distal renal tubular acidosis and asteatosis cutis were revealed. The diagnosis of Sjögren's syndrome was not made. We treated with high-dose prednisolone (60mg/day) and achieved improvement of symptoms and laboratory data. Open renal biopsy showed TIN without any glomerular changes. Predominant TIN is very rare in SLE. We discussed its pathogenesis and relation to the renal lesions of Sjögren's syndrome.

Acidosis, Renal Tubular↗