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PubMed1986

Hypertension, mineralocorticoid-resistant hyperkalemia, and hyperchloremic acidosis in an infant with obstructive uropathy.

An 8-week-old infant with hypertension, hyperkalemia, and hyperchloremic acidosis, presumably due to chloride shunt type of distal renal tubular acidosis, is described. The patient's renin-aldosterone axis was intact. The infant was also found to have an obstructed solitary kidney. Despite correction of the obstruction and improvement in the glomerular filtration rate accompanied by normal development, hyperkalemia and renal tubular acidosis persisted. The defect was still demonstrable 9 months following relief of the obstruction. We conclude that neonatal obstructive uropathy can result in renal tubular acidosis of the chloride shunt type. The reversibility of this defect is, as yet, unknown.

Acid-Base Equilibrium↗

PubMed1995

Nephrolithiasis and nephrocalcinosis in cerebrotendinous xanthomatosis: report of three siblings.

We report the existence of nephrocalcinosis (NC) and/or nephrolithiasis (NL) in three siblings with cerebrotendinous xanthomatosis (CTX). Incomplete renal tubular acidosis (RTA) type 1 is also found in these three siblings after the evaluation of renal acidification function. Although the association of RTA with NC and/or NL is well known, they are rarely reported in CTX patients.

Acid-Base Equilibrium↗

PubMed2000

Short sequence repeat polymorphism in the mouse slc4al gene encoding the AE1 Cl-/HCO3-exchanger.

The human AE1 anion exchanger gene SLC4A1 encodes the Cl-/HCO3-exchangers of the erythrocyte and the Type Acid-secreting intercalated cell basolateral membrane. Mutations in SLC4A1 have been correspondingly linked with autosomal dominant hereditary spherocytotic anemia and with both dominant and recessive forms of distal renal tubular acidosis. Murine knockouts in the slc4a1Ae1 gene have also been generated, and lack erythroid and renal expression. However, intragenic polymorphic markers for the slc4a1 gene have been unavailable. Here we report that a previously identified CA repeat element of intron 13 of the murine Ae1 gene exhibits strain-specific length polymorphism.

Acidosis, Renal Tubular↗

PubMed1988

Alkali action on the urinary crystallization of calcium salts: contrasting responses to sodium citrate and potassium citrate.

Alkali therapy is used commonly to prevent recurrent stone formation in patients with distal renal tubular acidosis. We compared the effects of potassium citrate to those of sodium citrate in 6 well defined cases of incomplete distal renal tubular acidosis. The patients were studied during a control phase, during potassium citrate treatment (80 mEq. per day) and during sodium citrate treatment (80 mEq. per day) chosen in random order. Potassium citrate caused a decrease in urinary calcium and a significant increase in urinary citrate that resulted in a significant decrease in the urinary saturation of calcium oxalate. It did not alter the saturation of brushite and sodium urate. However, while sodium citrate also was able to increase the urinary citrate level, there was no decrease in the urinary calcium (owing to the increased sodium load). Thus, the urinary saturation of calcium oxalate did not decrease as much as with potassium citrate and the saturation of brushite increased significantly. Moreover, the urinary saturation of sodium urate increased significantly owing to the enhanced sodium excretion. The results suggest that potassium citrate therapy may retard the crystallization of calcium oxalate and may not cause calcium phosphate crystallization. In contrast, sodium citrate may have no effect or it sometimes may accentuate the crystallization of calcium salts. Thus, our study supports the potential clinical advantage of potassium citrate therapy over sodium alkali treatment in patients with incomplete distal renal tubular acidosis and recurrent calcium nephrolithiasis.

Acidosis, Renal Tubular↗

PubMedDate not supplied

Metabolic acidosis and renal tubular injury due to pure toluene inhalation.

A 22-y-old woman was hospitalized for muscle weakness of her lower extremities after she sniffed approximately 6 l of pure toluene during the month prior to admission. The examinations on serum and urine revealed mixed hyperchloremic and high anion gap metabolic acidosis accompanied by impaired urinary acidification. Histopathological changes of the kidney were patchy areas of tubular injury. Acidosis normalized on the fourth day of admission, but both proximal and distal tubular dysfunction persisted. These findings indicate that toluene is a tubular toxin and may contribute to the development of distal renal tubular acidosis.

Acidosis↗

PubMed1986

Renal disease associated with toluene inhalation.

A 32-year old woman developed severe quadriparesis, hypokalemia, and distal renal tubular acidosis following paint sniffing for one week. A review of literature indicated that a spectrum of renal diseases may develop in association with inhalation of toluene-containing substances. Toluene inhalation should be considered in the differential diagnosis in any young patient who presents with an unexplained renal disorder.

Acidosis, Renal Tubular↗

PubMed1976

Renal tubular defects in recurring bilateral nephrolithiasis.

A metabolic study was performed in 28 patients with bilateral recurrent calcium-containing renal staghorn calculi and chronic pyelonephritis ("obstructive nephropathy"). Fourteen had normal GFR and 14 mild renal insufficiency. Ten normal subjects were used as controls. Under basal conditions, polyuria and negative sodium balance were commonly observed in patients with obstructive nephropathy and normal renal function. After an acute acid load (NH4Cl) an acidifying defect, i.e. high values for urine pH and reduced excretion of titratable acid and ammonium, was observed in 64% of patients with normal GFR and in 71.4% of those with renal insufficiency. During intravenous infusion with neutral sodium phosphate, the urine pH changed little but the rate of excretion of titratable acid increased in direct proportion to that of urinary phosphate in both groups of patients. These results, associated with the finding of normal blood pH in almost all patients, lead to the conclusion that an incomplete Type 1 or "distal" renal tubular acidosis is a frequent complication of obstructive nephropathy secondary to bilateral nephrolithiasis. The anatomical abnormalities of renal tubules and collecting ducts and the superimposed interstitial nephritis might be the pathogenetic factors responsible for the acidifying defect and for the impairment in sodium and water conservation.

Acidosis, Renal Tubular↗

PubMed2004

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.

In humans and terrestrial vertebrates, the kidney controls systemic pH in part by absorbing filtered bicarbonate in the proximal tubule via an electrogenic Na+/HCO3- cotransporter (NBCe1/SLC4A4). Recently, human genetics revealed that NBCe1 is the major renal contributor to this process. Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T., Inatomi, J., Sekine, T., Cha, S. H., Kanai, Y., Kunimi, M., Tsukamoto, K., Satoh, H., Shimadzu, M., Tozawa, F., Mori, T., Shiobara, M., Seki, G., and Endou, H. (1999) Nat. Genet. 23, 264-266). We have identified and functionally characterized a novel, homozygous, missense mutation (S427L) in NBCe1, also resulting in pRTA and similar eye defects without mental retardation. To understand the pathophysiology of the syndrome, we expressed wild-type (WT) NBCe1 and S427L-NBCe1 in Xenopus oocytes. Function was evaluated by measuring intracellular pH (HCO3- transport) and membrane currents using microelectrodes. HCO3- -elicited currents for S427L were approximately 10% of WT NBCe1, and CO2-induced acidification was approximately 4-fold faster. Na+ -dependent HCO3- transport (currents and acidification) was also approximately 10% of WT. Current-voltage (I-V) analysis reveals that S427L has no reversal potential in HCO3-, indicating that under physiological ion gradient conditions, NaHCO3 could not move out of cells as is needed for renal HCO3- absorption and ocular pressure homeostasis. I-V analysis without Na+ further shows that the S427L-mediated NaHCO3 efflux mode is depressed or absent. These experiments reveal that voltage- and Na+ -dependent transport by S427L-hkNBCe1 is unfavorably altered, thereby causing both insufficient HCO3- absorption by the kidney (proximal RTA) and inappropriate anterior chamber fluid transport (glaucoma).

Acidosis, Renal Tubular↗

PubMed1986

A case of bladder agenesis.

We report a case of bladder agenesis with anal atresia, left renal agenesis, left ovarian agenesis and renal tubular acidosis.

Abnormalities, Multiple↗

PubMed2003

[Nephrocalcinosis: initial manifestation of primary Sjögren's syndrome].

INTRODUCTION: Nephrocalcinosis is a rare complication of chronic tubulointerstitial nephritis observed in primary Sjögren's syndrome. It can precede subjective sicca symptoms. OBSERVATION: We report the case of a 50-year-old woman who presented with a primary Sjögren's syndrome. The first symptoms appeared 10-years-ago while she was affected with a nephrocalcinosis. CONCLUSION: Autoimmune investigations for Sjögren's syndrome should be initiated in any patient presenting with nephrocalcinosis and distal renal tubular acidosis.

Acidosis, Renal Tubular↗

PubMed1983

[Detection of carbonic anhydrase in the human kidney from the viewpoint of acid-base regulation (an immunohistochemical study in urolithiasis patients)].

The enzyme carbonic anhydrase was detected with an indirect immunoperoxidase method in 22 kidney exploratory excisions of patients with urolithiasis, ren mobilis or stenosis of ureteral pelvic junction. The reactivity of carbonic anhydrase was related to disturbances in acid-base equilibrium. Carbonic anhydrase was detected in the convoluted parts of the distal tubules, connecting tubules and cortical collecting ducts. The distribution corresponds vastly with the localization of intercalated cells. The reaction was increased in three cases with acid rigidity and was strongly reduced in one case of renal tubular acidosis.

Acid-Base Equilibrium↗

PubMed1993

Hypokalemic flaccid paralysis as the presenting symptom of autoimmune interstitial nephropathy.

We describe a patient who presented dramatically with life-threatening hypokalemic flaccid paralysis. Following resuscitation, extensive investigation showed that the patient had lupus erythematosus (SLE) and Sjogren's syndrome (SS) of which she was unaware. A search for the cause of the profound hypokalemia led to the finding of obligatory renal potassium wasting due to distal renal tubular acidosis (RTA), secretory type. The acid base status of the patient showed hyperchloremic metabolic acidosis compatible with distal renal tubular acidosis. Our case is a further proof that patients with "overlap syndrome" (SLE-SS) may have RTA, which may lead to life-threatening hypokalemia. Others have shown that the SLE-SS complex may occasionally be complicated by hyperkalemia. Thus, an autoimmune disease that is relatively common may present with devastating electrolyte abnormalities.

Adult↗

PubMed1998

Effect of metabolic acidosis on renal tubular sodium handling in rats as determined by lithium clearance.

Systemic metabolic acidosis is known to cause a decrease in salt and water reabsorption by the kidney. We have used renal lithium clearance to investigate the effect of chronic, NH4Cl-induced metabolic acidosis on the renal handling of Na+ in male Wistar-Hannover rats (200-250 g). Chronic acidosis (pH 7.16 +/- 0.13) caused a sustained increase in renal fractional Na+ excretion (267.9 +/- 36.4%), accompanied by an increase in fractional proximal (113.3 +/- 3.6%) and post-proximal (179.7 +/- 20.2%) Na+ and urinary K+ (163.4 +/- 5.6%) excretion when compared to control and pair-fed rats. These differences occurred in spite of an unchanged creatinine clearance and Na+ filtered load. A lower final body weight was observed in the acidotic (232 +/- 4.6 g) and pair-fed (225 +/- 3.6 g) rats compared to the controls (258 +/- 3.7 g). In contrast, there was a significant increase in the kidney weights of acidotic rats (1.73 +/- 0.05 g) compared to the other experimental groups (control, 1.46 +/- 0.05 g; pair-fed, 1.4 +/- 0.05 g). We suggest that altered renal Na+ and K+ handling in acidotic rats may result from a reciprocal relationship between the level of metabolism in renal tubules and ion transport.

Acidosis, Renal Tubular↗

PubMed1979

Renal stones in Wilson's disease.

Fifty-four patients with Wilson's disease were studied with regard to renal stones. Seven of the 45 patients (16 per cent) who underwent roentgenographic procedures of the urinary tract had unequivocal evidence of renal stones. In four of the seven patients with Wilson's disease who had renal stones, the stones were discovered at the time or before the diagnosis of Wilson's disease was made. Of the several possible factors that may predispose patients with Wilson's disease to renal stone formation, the renal tubular acidosis pattern of abnormality in acid-base excretion is probably the most significant. In general, patients with renal stones and unexplained neurologic, bony or hepatic abnormalities should be screened for Wilson's disease by slit-lamp examination, determination of serum copper and ceruloplasmin concentrations, and urinary excretion of copper, particularly if they have relatively alkaline urine.

Acid-Base Equilibrium↗

PubMed1976

Light-chain nephropathy. Renal tubular dysfunction associated with light-chain proteinuria.

We observed idiopathic light-chain proteinuria in a patient with multiple abnormalities of proximal-tubule transport mechanisms (Fanconi syndrome), nephrogenic diabetes insipidus, and distal renal tubular acidosis. Seventeen of the 19 urinary amino acid levels measured were elevated. Uric acid and phosphate clearances were greater than 60 per cent and 50 per cent, respectively, of the simultaneous inulin clearance. When water deprivation was coupled with vasopressin administration, the maximum urinary concentration observed was 384 mOsm per kilogram of water. During ammonium-chloride loading, the level of hydrogen-ion concentration in the urine remained less than 100 times that in the blood. Kappa light-chain excretion was 149 mg per 24 hours. It appears that the concurrence of proximal tubular dysfunction, distal tubular dysfunction and light-chain proteinuria represents a distinct syndrome, which we call "combined light-chain nephropathy." Available evidence indicates that excessive light-chain production with subsequent filtration, reabsorption and catabolism, causes the complex tubular dysfunctions observed.

Acidosis, Renal Tubular↗

PubMedDate not supplied

[Growth and renal function].

Some genetic conditions, as cystinosis, familial hypophosphataemic rickets, type-I vitamin D-resistant rickets and renal tubular acidosis have an impact on growth and growth failure is one of the major problem in children with chronic renal failure (CRF). In early childhood, anorexia and malnutrition, electrolyte disturbances and metabolic acidosis are the main contributing factors for reduced growth, whereas renal osteodystrophy, anemia and hormonal disturbances are responsible for growth impairment later and during puberty. During infancy, loss of growth potential can be prevented by adequate nutrition. Later in life, catch-up growth cannot be induced by nutritional intervention or dialysis and renal transplantation allows catch-up growth in only a small percentage of patients. There is evidence for a state of resistance to growth hormone (GH) and insulin-like growth factor-I (IGF-I) in CRF. GH secretion is normal, but GH half-life is prolonged and the binding activity of the GH-binding protein is reduced, which points to a low receptor expression. IGF-I production may be diminished and the serum concentration of IGF-binding proteins (IGFBP-1 and 3) is increased. The imbalance between normal IGF-I and excessive IGFBP serum levels results in decreased IGF bioactivity that plays a pathogenic role in the growth failure. This insensitivity seems to be overcome by supraphysiological doses of recombinant human GH (rhGH). Many clinical studies have confirmed that rhGH increases growth velocity in children with CRF with and without dialysis and after renal transplant, without significant side-effects. The improvement of growth is more marked in prepubertal patients and during the first year of rhGH treatment. Long-term rhGH treatment in children with CRF improves the growth potential of children, achieving target adult height. The Authors discuss the recent studies employing rhGH in renal diseases and attempt to give some guide lines to rhGH treatment in these illnesses.

Acidosis, Renal Tubular↗

PubMed1991

Ammonium transport in the kidney: new physiological concepts and their clinical implications.

This article is based on a Basic Science Symposium presented at the 23rd Annual Meeting of the American Society of Nephrology. New information on the segmental transport of ammonium by the proximal tubule, the thick ascending limb of Henle's loop, and the collecting duct is integrated into a thesis that NH4+ excretion is controlled by the rate of production, by diffusion of NH3 along gradients established by proton secretion, and by active transport of NH4+. These new concepts are applied to a novel explanation of the pathogenesis of distal renal tubular acidosis.

Acidosis, Renal Tubular↗

PubMed1985

Positive renal response to intravenous acetazolamide in patients with carbonic anhydrase II deficiency.

Carbonic anhydrase II (CA II) is the only soluble isozyme of CA which is known to be expressed in kidney. We recently identified a deficiency of this enzyme as the basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. In order to explore the physiological importance of CA II in the kidney, we studied the renal response to intravenously infused acetazolamide in two CA II-deficient patients and two control subjects. Following acetazolamide infusion, the CA II-deficient patients exhibited a prompt rise in urinary pH and HCO3- excretion similar to the response seen in control subjects. These findings indicate that CA II-deficient patients, who lack detectable CA II in their erythrocytes, still expressed an acetazolamide-inhibitable CA activity in their kidneys. These results can be explained in three ways: 1) the CA II deficiency which is profound in the erythrocytes of these patients may not be expressed in their kidney. 2) An acetazolamide-sensitive CA other than CA II, such as CA I and CA III, which is not normally expressed in kidney, is expressed in kidneys of CA II-deficient patients. 3) The CA II deficiency is expressed in kidney in these patients but the acetazolamide response is due to inhibition of the luminal, membrane-bound CA which is the product of a different gene and unaffected by the CA II deficiency mutation. We favor the third possibility.(ABSTRACT TRUNCATED AT 250 WORDS)

Acetazolamide↗