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At least 145 records · Page 8Linked to original sources
PubMedDate not supplied

Renal tubular acidosis in childhood.

Nineteen children with clinical diagnoses of renal tubular acidosis were followed for periods ranging from 3 months to 20 years. Twelve patients had Type 1 renal tubular acidosis, five had Type 2, and two had Type 4. No sex predilection was found for any one of the types. Most patients had been diagnosed before 18 months of age, with failure to thrive the most common presentation. Tachypnea, polydipsia, polyuria, and vomiting were frequent symptoms. Some of these children had associated renal hypoplasia, vesicoureteral reflux, unilateral renal agenesis, glomerulocystic disease, adult polycystic kidney disease, and cyanotic congenital heart disease. Urinary anion gap may be useful for differential diagnosis of altered distal urinary acidification from other hyperchloremic metabolic acidosis. Furosemide test may need further investigation. Inability to raise urine to blood pCO2 gradient is helpful for diagnosis of Type 1 renal tubular acidosis. Hypokalemia, hypocalcemia, hypophosphatemia, decreased tubular reabsorption of phosphate, and hypercalciuria occurred in some patients. Complications included rickets in two, nephrocalcinosis in one, and episodic hematuria in one. There was relative bicarbonate wasting in children with Type 1 renal tubular acidosis, with a mean therapeutic bicarbonate requirement of 4.4 +/- 2.6 meq/kg/day. The mean bicarbonate dose for patients with Type 2 renal tubular acidosis was 8.3 +/- 2.6 meq/kg/day. Most children had good response to treatment with complete catch-up linear growth in 13, improved growth in 4, and continuing poor growth in 2. Two patients died during follow-up. Two other patients maintained normal growth without medication.

Acidosis, Renal Tubular↗
PubMed1978

Distal renal tubular acidosis in selective hypoaldosteronism.

Renal mechanisms for metabolic acidosis in selective hypoaldosteronism were investigated in a patient with marked renal insufficiency. Studies demonstrated a distal hydrogen ion secretory defect. Control of elevated serum potassium levels did not normalize urinary acid excretion, but systemic acidosis was improved. Mineralocorticoid therapy normalized serum potassium without increasing urinary potassium. Hyperkalemia did not directly affect renal acid handling, and extrarenal mechanisms for potassium excretion are suggested. Measurement of rectal mucosal potential difference suggests this test may be of value in detecting a wide range of abnormalities in aldosterone metabolism.

Acidosis, Renal Tubular↗
PubMed1970

Fibrosing alveolitis associated with renal tubular acidosis.

The discovery of a case of renal tubular acidosis and fibrosing alveolitis led to the investigation of 19 further patients. Abnormal pulmonary function tests were found in a further four patients with overt renal tubular acidosis and in four out of eight patients with "incomplete" renal tubular acidosis. The response to an ammonium chloride test in seven patients with cryptogenic fibrosing alveolitis was normal. Those patients with a defect of both renal acidification and pulmonary gas transfer had concurrent autoimmune diseases such as Sjögren's syndrome and primary biliary cirrhosis. It is suggested that the renal and pulmonary abnormalities may be part of a systemic disorder capable of affecting many organs. Moreover, hyperglobulinaemia and autoantibodies in these patients further suggests that immunological mechanisms are concerned in the pathogenesis of these abnormalities.

Acidosis, Renal Tubular↗
PubMed1985

Carbonic anhydrase II deficiency in 12 families with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

Osteopetrosis with renal tubular acidosis and cerebral calcification was identified as a recessively inherited syndrome in 1972. In 1983, we reported a deficiency of carbonic anhydrase II, one of the isozymes of carbonic anhydrase, in three sisters with this disorder. We now describe our study of 18 similarly affected patients with this syndrome in 11 unrelated families of different geographic and ethnic origins. Virtual absence of the carbonic anhydrase II peak on high-performance liquid chromatography, of the esterase and carbon dioxide hydratase activities of carbonic anhydrase II, and of immunoprecipitable isozyme II was demonstrated on extracts of erythrocyte hemolysates from all patients studied. Reduced levels of isozyme II were found in obligate heterozygotes. These observations demonstrate the generality of the findings that we reported earlier in one family and provide further evidence that a deficiency of carbonic anhydrase II is the enzymatic basis for the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification. We also summarize the clinical findings in these families, propose mechanisms by which a deficiency of carbonic anhydrase II could produce this metabolic disorder of bone, kidney, and brain, and discuss the clinical evidence for genetic heterogeneity in patients from different kindreds with this inborn error of metabolism.

Acidosis, Renal Tubular↗
PubMed1985

Hyperkalemic distal renal tubular acidosis and selective aldosterone deficiency. Combination in a patient with lead nephropathy.

A patient with chronic renal failure, a strong history of moonshine abuse, and excessive urinary lead excretion had clinical and laboratory measurements compatible with combined hyperkalemic distal renal tubular acidosis and the syndrome of selective aldosterone deficiency. Extended treatment with fludrocortisone acetate, 0.1 to 0.2 mg/day, did not ameliorate acidosis or restore potassium excretion.

Acetazolamide↗
PubMedDate not supplied

Pathogenesis of renal calculi in distal renal tubular acidosis. Possible role of parathyroid hormone.

Elevated circulating levels of immunoreactive parathyroid hormone (PTH), hypercalciuria and renal calculi were found in 3 patients with distal renal tubular acidosis (RTA). Treatment with alkali resulted in a fall of PTH toward normal and a reduction in urinary calcium, but the frequency of urolithiasis was unchanged. In one patient in whom prolonged follow-up was possible, a subtotal parathyroidectomy was performed. This was followed by virtual cessation of stone formation despite persistence of the acidification defect. This study suggests that RTA may be associated with secondary hyperparathyroidism and that the consequent elevation in PTH may play a contributory role in the pathogenesis of renal calculi.

Acidosis, Renal Tubular↗
PubMed1990

Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia.

A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.

Acidosis, Renal Tubular↗
PubMed1988

Toluene abuse and renal tubular acidosis in pregnancy.

Five gravidas presented with severe renal tubular acidosis from paint sniffing. Normal acid-base balance returned within 72 hours with cessation of toluene abuse and standard supportive measures. Fetal heart tracings and dynamic ultrasound parameters were normal in four of five cases. Three of five infants were growth-retarded at birth; two showed anomalies and neonatal hyperchloremic acidosis. These and previous cases of renal tubular acidosis in pregnancy suggest that toluene is teratogenic.

Acidosis↗
PubMed1982

Renal calculi associated with incomplete distal renal tubular acidosis.

We report 5 cases of renal calculi associated with incomplete type I renal tubular acidosis. The patients presented with a history of recurrent calculi and demonstrated bilateral calculi with corticomedullary junction calcification on x-ray. Stone analysis revealed primarily calcium phosphate stones and metabolic studies demonstrated hypercalciuria, mild depression of serum bicarbonate and inability to lower the pH of a fasting morning urine to less than 5.8. The 24-hour urinary citrate excretion was depressed markedly. The diagnosis was confirmed by an ammonium chloride loading test. Treatment consisted of alkalization of the patients, which corrects the hypercalciuria and increases the urinary citrate level and should decrease the tendency to form stones. The diagnosis of incomplete type I renal tubular acidosis should be considered in patients with recurrent renal calculi.

Acidosis, Renal Tubular↗
PubMed2001

Distal renal tubular acidosis with severe hypokalaemia, probably caused by colonic H(+)-K(+)-ATPase deficiency.

We describe a 21 month old male infant who presented with failure to thrive associated with severe hypokalaemia and metabolic acidosis, together with hypomagnesaemia. Evaluation revealed marked renal and probable faecal potassium wasting, distal renal tubular acidosis, mild urinary magnesium wasting, and a normal gastric pH (gastric H(+)-K(+)-ATPase). Hypokalaemic forms of metabolic acidosis, such as diabetic ketoacidosis and proximal renal tubular acidosis were ruled out from the clinical picture. The hypokalaemia of distal renal tubular acidosis usually improves with alkali therapy, but this was not observed: despite correction of acidosis with 5 mmol/kg potassium citrate per day, an additional 5 mmol/kg potassium chloride was required to bring serum potassium to 3.5 mmol/l. At 3 years of age potassium was provided in the absence of potential alkali and acidosis ensued; serum bicarbonate fell to 10 mmol/l. Although a specific genetic analysis is not yet possible, the abnormalities are consistent with a novel form of distal renal tubular acidosis. The pathophysiology probably does not stem from defects in the vacuolar H(+)-ATPase but more likely from deficient activity of the colonic isoform of H(+)-K(+)-ATPase that is resident in the medullary collecting duct and mediates potassium absorption and proton secretion.

Acidosis, Renal Tubular↗
PubMed1995

Renal tubular acidosis in the Silver-Russell syndrome.

Several patients with the Silver-Russell syndrome (SRS) attending our Genetics Clinic were diagnosed as having persistent metabolic acidosis. Since this abnormality has not been reported previously in the SRS, we reexamined 33 SRS patients to evaluate the frequency and type of metabolic acidosis, the clinical and laboratory findings, and the growth pattern in SRS patients with and without metabolic acidosis. Among them, 14 had a consistent decrease in HCO3- levels. Renal studies in acidotic patients showed urine pH of 5.8 and 24 h urine calcium of < 2.4 mg/kg/24 h; serum creatinine, excretion of glucose, and amino acids were normal, as were renal ultrasound and excretory urography findings. These data supported the diagnosis of renal tubular acidosis, probably type II; the patients were treated with oral bicarbonate and acidosis was corrected successfully. Clinical manifestations were similar in acidotic and non-acidotic patients. The nutritional indices at diagnosis and at last evaluation (at least 8 months after diagnosis) were abnormally low in all patients; however, acidotic patients, treated with bicarbonate, showed an improvement of nutritional status particularly in the weight/height index, although the difference between groups after follow-up did not reach statistical significance. We suggest that metabolic acidosis due to renal tubular acidosis, probably type II, may occur in children with the SRS and should be looked for and treated in all patients.

Abnormalities, Multiple↗
PubMed2000

Renal tubular acidosis and vasculitis associated with IgE deposits in the kidney and small vessels.

We report a woman with a history of allergies, polyuria, polydipsia, proteinuria, renal loss of electrolytes, renal tubular acidosis, nephrocalcinosis, and palpable purpura. A proximal defect was excluded by a normal bicarbonate reabsorption curve, and a distal tubular defect was shown because urine pH did not decrease to less than 6.4 despite ammonium chloride-induced systemic acidosis. Moreover, furosemide failed to improve urinary acidification. Urine-to-blood PCO(2) gradient was less than 14 mm Hg, although the urine bicarbonate level reached values as high as 89 mEq/L. Combining bicarbonate and neutral phosphate infusions increased the urine-to-blood PCO(2) gradient to only 20 mm Hg. These subnormal PCO(2) gradient values point to proton-pump dysfunction in the collecting tubule. Histological evidence of tubulointerstitial disease accompanied the tubular defects. The striking histological feature was the presence of immunoglobulin E (IgE) deposits in glomeruli, tubuli, and vessels. Concurrent with these findings, she had high serum IgE titers and CD23 levels. IgE antibodies from her serum were reactive against human renal tubuli, with binding to two regions that matched two different proteins present in cortex and medulla. One of these proteins corresponded to carbonic anhydrase II (31 kd); the second, to an unidentified protein that seems attached to cell membranes. We suggest that these IgE antibodies could have had a pathogenic role in this patient's glomerular, tubular, and small-vessel disease.

Acidosis, Renal Tubular↗
PubMed2004

Secondary erythrocytosis associated with distal renal tubular acidosis.

AIMS: Diagnosis and classification of renal tubular acidosis (RTA) have traditionally been made on the basis of functional studies. Despite recent expanding knowledge about the molecular abnormalities involved in renal bicarbonate (HCO3-) and H+ transport, the pathophysiology of secondary erythrocytosis in association with distal RTA remains obscure. CASE HISTORY: A 2-month-old boy with severe hyperchloremic metabolic acidosis with positive urine anion gap was diagnosed with distal RTA. Replacement therapy with sodium bicarbonate and potassium citrate succeeded in improving his metabolic acidosis and growth. His renal function remained normal. He had persistent erythrocytosis. CONCLUSION: Secondary erythrocytosis is a rarely reported association of distal RTA. It may increase the risk of thromboembolism.

Acidosis, Renal Tubular↗
PubMed1985

Hypokalemic paralysis in Sjögren's syndrome secondary to renal tubular acidosis.

A 62-year-old woman with Sjögren's syndrome, distal renal tubular acidosis and hypokalemic muscle paralysis is described. The sicca syndrome was nearly subclinical and went unrecognized for several years. The main and first manifestation to be expressed was that of hypokalemic muscle paralysis secondary to renal tubular acidosis. In the last decade several reports have appeared indicating that renal tubular acidosis is associated with Sjögren's syndrome. The data in this report support the view that adult onset distal renal tubular acidosis is often a disorder of an autoimmune disease, frequently that of Sjögren's syndrome. The complications to renal tubular acidosis such as hypokalemic muscle paralysis or chronic muscle weakness, nephrolithiasis, and osteomalacia can be avoided if the diagnosis of renal tubular acidosis is made and corrective alkali therapy is maintained.

Acidosis, Renal Tubular↗
PubMedDate not supplied

Renal tubular acidosis in pregnancy: case report and literature review.

Renal tubular acidosis is a rare form of chronic metabolic acidosis, which is either inherited as an autosomal dominant condition (Types 1, 2, and 3) or acquired. Its effects on pregnancy and vice versa are not known, but chronic acidosis may affect fetal bone growth and development. Chronic maternal acidosis may also lead to fetal distress, which should respond to correction of the maternal acidosis. The patient is a 20-year-old gravida 2, para 1-0-0-1, Hispanic female with distal renal tubular acidosis, diagnosed 1 year prior to this pregnancy after suffering from hypokalemic paralysis. During the pregnancy she required steadily increasing doses of potassium and bicarbonate, to maintain electrolyte balance. She delivered a healthy full-term female infant, weighing 2,892 g, with Apgars of 5 and 9 at 1 and 5 min, respectively, following an induction of labor for oligohydramnios. There was no evidence of intrapartum or neonatal distress, and the infant was discharged home with her mother on the first postpartum day in good health. Established renal tubular acidosis, which was adequately treated with bicarbonate and potassium supplementation during pregnancy, had no apparent ill effects on fetal or neonatal well-being in this case.

Acidosis, Renal Tubular↗
PubMed2000

[Sensorineural hearing loss in distal renal tubular acidosis, nephrocalcinosis and microcytic anemia].

Distal renal tubular acidosis is characterized by an impaired H(+)-ion secretion in the distal tubulus. This may cause metabolic acidosis. Among others, patients suffer from retardation and nephrocalcinosis. Here we report about a 3 years old patient with drtA and sensorineural hearing loss. ATP6B1 gene mutation was recently found in patients with drtA sensorineural hearing loss. ATP6B1 expression was demonstrated immunohistochemically in the mouse cochlea and endolymphatic sac. ATP6B1 mRNA was found in the fetal and adult human cochlea. These findings suggest that sensorineural hearing loss in drtA is caused by an disturbed pH homeostasis induced by ATP6B1 mutation.

Acidosis, Renal Tubular↗
PubMed1979

Familial absorptive hypercalciuria and renal tubular acidosis.

Hypercalciuria was considered as a secondary condition when associated with familial renal tubular acidosis. Later studies suggested that hypercalciuria could lead to renal tubular acidosis and nephrocalcinosis. Selected members of a family spanning five generations were studied. Renal tubular acidosis was present in eight subjects in three consecutive generations. Increased 24-hour urinary calcium excretion was present in nine subjects in three consecutive generations, alone in the younger generation, and in combination with renal tubular acidosis and nephrocalcinosis in the older generation. Calcium loading tests showed the absorptive nature of hypercalciuria in nine of 18 subjects studied. This report suggests that in this family the absorptive hypercalciuria is an autosomal dominant genetic defect with complete penetrance and variable expressivity which leads to renal tubular acidosis and nephrocalcinosis.

Acidosis, Renal Tubular↗