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PubMed1998

Autosomal dominant distal renal tubular acidosis is associated in three families with heterozygosity for the R589H mutation in the AE1 (band 3) Cl-/HCO3- exchanger.

Distal renal tubular acidosis (dRTA) is characterized by defective urinary acidification by the distal nephron. Cl-/HCO3- exchange mediated by the AE1 anion exchanger in the basolateral membrane of type A intercalated cells is thought to be an essential component of lumenal H+ secretion by collecting duct intercalated cells. We evaluated the AE1 gene as a possible candidate gene for familial dRTA. We found in three unrelated families with autosomal dominant dRTA that all clinically affected individuals were heterozygous for a single missense mutation encoding the mutant AE1 polypeptide R589H. Patient red cells showed approximately 20% reduction in sulfate influx of normal 4,4'-diisothiocyanostilbene-2,2'-disulfonic acid sensitivity and pH dependence. Recombinant kidney AE1 R589H expressed in Xenopus oocytes showed 20-50% reduction in Cl-/Cl- and Cl-/HCO3- exchange, but did not display a dominant negative phenotype for anion transport when coexpressed with wild-type AE1. One apparently unaffected individual for whom acid-loading data were unavailable also was heterozygous for the mutation. Thus, in contrast to previously described heterozygous loss-of-function mutations in AE1 associated with red cell abnormalities and apparently normal renal acidification, the heterozygous hypomorphic AE1 mutation R589H is associated with dominant dRTA and normal red cells.

Acidosis, Renal Tubular↗

PubMed1998

[Cervical actinomycosis in systemic lupus erythematosus, nephrocalcinosis and distal renal tubular acidosis (type I-RTA)].

HISTORY AND CLINICAL FINDINGS: A 25-year-old woman presented with a painful soft-tissue swelling in the right neck, which made it impossible to assess the right cervical lymph nodes, while other lymph nodes were unremarkable on palpation. For 9 years she had been known to have polyarthritis. All joints were freely mobile and were without deformity or inflammatory signs. Flexion of the left elbow was slightly painful but freely mobile. There was no skin rash. INVESTIGATIONS: Erythrocyte sedimentation rate was 44 mm/h, there was a leucocytosis of 16,000 granulocytes/ml. There was hypokalaemia (3.5 mEq/l) and a metabolic hyperchloremic acidosis with a pH of 7.27 and a urinary pH of 6.5. Antinuclear and anti-ds-DNA antibodies were raised (ANA: 3.9 multiple of cutoff point [MOC; normal: 0-1.0]; anti-ds-DNA antibodies: 4.0 [normal: 0-1.0])-Fine needle aspiration cytology from the swelling revealed erythrocytes, double-refractory horny lamellae, cellular debris and only a few inflammatory cells. Abdominal ultrasound showed nephrocalcinosis. Microbiological cultures were negative. DIAGNOSIS, TREATMENT AND COURSE: Assuming a bacterial cause of the swelling antibiotic treatment with Phenoxymethylpenicillin (4 MU/d) was initiated. The local findings rapidly improved and the inflammatory parameters regressed to normal. 16 weeks after the initial admission the abscess recurred and biopsy now revealed actinomycetes with typical granules, confirming cervical actinomycosis. The other symptoms indicated autoimmune disease and, together with previous findings, established the additional diagnosis of lupus erythematodes, which caused the type 1 distal tubular acidosis. CONCLUSIONS: This case illustrates the basic approach of establishing an all-encompassing diagnosis that brings together seemingly isolated findings. It is especially in systemic disease that such diagnostic strategy will frequently lead to its recognition.

Acidosis, Renal Tubular↗

PubMed1994

Distal renal tubular acidosis: molecular and clinical aspects.

The traditionally descriptive classification of DRTA disorders is being refined as molecular defects are identified. Diagnosis of DRTA is easy: Hyperchloremic acidosis should arouse suspicion, and confirmation can be obtained by measuring urinary pH and ammonia excretion. Treatment is also relatively straightforward and readily corrects all manifestations of the acidification defect.

Acidosis, Renal Tubular↗

PubMed2005

[A case of incomplete distal renal tubular acidosis undergoing repeated treatment by extracorporeal shock-wave lithotripay and transureteral lithotripsy for recurrent urolithiasis].

A 65-year-old woman was referred to our hospital for further examination of recurrent urinary stone formation. She had undergone 49 sessions of extracorporeal shock-wave lithotripay (ESWL) and 3 sessions of transureteral lithotripsy (TUL) under the diagnosis of idiopathic recurrent urolithiasis at another hospital. An excretory urography showed bilateral hydronephrosis and a retrograde urography revealed bilateral lower ureteral stricture. Ammonium chloride loading test demonstrated incomplete distal renal tubular acidosis. Potassium citrate therapy had begun and bilateral nephrostomies were required in order to prevent recurrent urinary tract infection and new stone formation. Literature was reviewed and discussion was made on the ureteral stricture after ESWL and TUL, and on incomplete distal renal tubular acidosis.

Acidosis, Renal Tubular↗

PubMed1983

A sibship with neuroaxonal dystrophy and renal tubular acidosis: a new syndrome?

The clinical and pathological features of three siblings from nonconsanguineous parents are described. Two of the children died at 6 1/2 and 7 months of age of a central nervous system disorder characterized by severe behavioral retardation, hypotonia, and pyramidal tract signs. The third child, now 8 years old, has global mental retardation, inability to talk, marked tremors, and gait disturbances. All children exhibited inability to concentrate or acidify the urine, with growth delay partially corrected in the living child by alkali therapy. Computed tomographic scans revealed hyperdense lesions in the thalamus of one of the siblings and more striking hyperdensity of the basal ganglia in the eldest child. Findings at postmortem examination in two children, and by renal and sural nerve biopsy in the third, include swollen axons in the internal capsule and peripheral nerves, and neurons with iron-staining deposits, gliosis, and macrophages containing lipofuscin pigments in the brain. The renal findings include material positive for periodic acid-Schiff and hyperdense granular deposits in renal tubules.

Acidosis, Renal Tubular↗

PubMed2002

Reduced Tc-99m DMSA uptake in a patient with renal tubular acidosis: effect of acid-base imbalance.

Tc-99m dimercaptosuccinic acid (DMSA) is used as a renal cortical imaging agent to detect parenchymal abnormalities especially in children. Kidney uptake of DMSA provides an index for evaluation of a functional tubular mass, which depends on the renal blood flow and proximal tubular cell membrane transport function. We here report a boy with renal tubular acidosis, which has noticeably reduced uptake on his Tc-99m DMSA scintigraphy, despite a totally normal Tc-99m MAG-3 study. The case reported here clearly demonstrates a situation in which renal uptake of DMSA may be dissociated from a functional renal mass and the importance of acid-base balance which alters Tc-99m DMSA uptake.

Acid-Base Imbalance↗

PubMed1988

Transfusion of carbonic anhydrase-replete erythrocytes fails to correct the acidification defect in the syndrome of osteopetrosis, renal tubular acidosis, and cerebral calcification (carbonic anhydrase-II deficiency).

We explored the effects of transfusion of carbonic anhydrase II (CA-II)-replete erythrocytes on systemic pH, serum electrolytes, and urinary acidification of a patient with CA-II deficiency. Pretransfusion studies documented hyperchloremic acidosis, increased urinary pH with decreased titratable acidity, and profound CA-II deficiency in erythrocytes. During transfusion, CA-II in circulating erythrocytes increased to above the half-normal levels seen in asymptomatic heterozygote carriers of CA-II deficiency. However, no significant change occurred in venous, arterial or urinary pH, serum electrolytes, and urinary acid excretion during the transfusion or during the subsequent 60 hr of observation. These studies argue that the renal acidification defect in CA-II deficiency results from deficiency of CA-II in the renal parenchyma, and is not secondary to deficiency of CA-II in erythrocytes. Bone marrow transplantation is not a promising approach to correct the renal manifestations of CA-II deficiency.

Acidosis, Renal Tubular↗

PubMed1996

Nephrogenic diabetes insipidus and renal tubular acidosis secondary to foscarnet therapy.

Foscarnet is used as therapy of cytomegalovirus (CMV) infection in immunosuppressed subjects. We present a patient with human immunodeficiency virus infection under treatment with foscarnet for CMV retinitis who complained of thirst and polyuria. Laboratory data showed hypernatremia with increased plasma osmolality and metabolic hyperchloremic acidosis. A water deprivation test demonstrated a nephrogenic diabetes insipidus. Other laboratory studies, including urine pH, anion gap, titratable acidity, and bicarbonate, showed a distal tubular acidification defect. All abnormalities were transient, with recovery a few days after foscarnet withdrawal. No cases of renal acidosis, and only one case of nephrogenic diabetes insipidus, has been previously reported as a complication of foscarnet treatment. Our patient developed both nephrogenic diabetes insipidus and renal tubular acidosis with a temporal pattern that demonstrated a link between foscarnet therapy and these abnormalities.

AIDS-Related Opportunistic Infections↗

PubMed1994

[Distal renal tubular acidosis presenting with rhabdomyolysis].

Severe hypokalemia is an uncommon cause of rhabdomyolysis. We describe a patient, 28-year-old woman, with distal renal tubular acidosis (DRTA) who developed severe hypokalemia and rhabdomyolysis. Muscle biopsy shows focal muscular necrosis mainly in type II muscle fibers and mild macrophagic reaction. After correcting the acidosis with oral administration of alkalinizing salts, clinical and laboratory improvement was seen. This clearly establish a causal relationship between the positive acid balance, hypokalemia and the muscular manifestation in DRTA.

Acidosis, Renal Tubular↗

PubMed1972

Renal tubular acidosis.

These discussions are selected from the weekly staff conferences in the Department of Medicine, University of California, San Francisco. Taken from transcriptions, they are prepared by Drs. Sydney E. Salmon and Robert W. Schrier, Assistant Professors of Medicine, under the direction of Dr. Lloyd H. Smith, Jr., Professor of Medicine and Chairman of the Department of Medicine. Requests for reprints should be sent to the Department of Medicine, University of California, San Francisco, San Francisco, Ca. 94122.

Acidosis, Renal Tubular↗

PubMed1991

[A case of primary Sjögren's syndrome presenting as osteomalacia secondary to renal tubular acidosis].

We report a 43-year-old female with primary Sjögren's syndrome (SjS) who presented as osteomalacia due to distal renal tubular acidosis (RTA). Osteomalacia was thought to be a rare complication of RTA in SjS, although it had been often described in association with RTA in general. In 1979, she presented with dry mouth, parotid gland swelling and leg purpura. A diagnosis of primary SjS and hyperglobulinemic purpura was made on the basis of positive staining with Rose Bengal stain, sialography of the parotid gland and histological examination of the salivary gland of the lip. She was admitted to Jichi Medical School Hospital in March 1988 with chest pain. X-ray films revealed pseudofractures of bilateral ribs. Bone scanning showed abnormal multiple accumulation of RI on the same parts. Laboratory studies on admission revealed: GOT 50 IU/ml, GPT 9 IU/ml, ALP 190 IU/ml, LDH 301 IU/ml, BUN 11.0 mg/dl, creatinine 1.0 mg/dl, uric acid 2.7 mg/dl, total protein 7.4 g/dl (gamma globulin 22.3%), sodium 141 mEq/l, potassium 3.7 mEq/l, chloride 106 mEq/l, calcium 8.9 mg/dl, and phosphorus 2.4 mg/dl. Arterial blood gas studies on room air showed: PO2 96.7mmHg, PCO2 35.5mmHg, HCO3-19.1 mEq/l, PH 7.347 and base excess -5.4 mEq/l. The urinalysis showed: specific gravity 1.008, PH 7.0, and no protein and glucose. Immunologically, antinuclear antibody was positive at 1:640 with a speckled pattern. Anti-DNA antibody was negative. Antibodies to SS.A and SS.B were 1:64 and 1:32 respectively. Distal RTA was confirmed by the sodium bicarbonate and NH4Cl loading test.(ABSTRACT TRUNCATED AT 250 WORDS)

Acidosis, Renal Tubular↗

PubMed1983

Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification.

The clinical, radiological, and pathological findings in three siblings affected with the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification have been reported. In an effort to explain the pleiotropic effects of the mutation producing this disorder, we postulated a defect in carbonic anhydrase II (CA II), the only one of the three soluble isozymes of carbonic anhydrase that is known to be synthesized in kidney and brain. We report here biochemical and immunological evidence for the virtual absence of CA II in erythrocytes of patients affected with this condition, whereas CA I level is not reduced. Levels of CA II in erythrocyte hemolysates from asymptomatic obligate heterozygotes are about half of normal. These findings: (i) elucidate the basic defect in one form of inherited osteopetrosis; (ii) provide genetic evidence implicating CA II in osteoclast function and bone resorption; (iii) explain previous observations that carbonic anhydrase inhibitors block the normal parathyroid hormone-induced release of calcium from bone; (iv) clarify the role of renal CA II in urinary acidification and bicarbonate reabsorption; and (v) suggest a method to identify heterozygous carriers for the gene for this recessively inherited syndrome.

Acidosis, Renal Tubular↗

PubMed1990

Experimental models of distal renal tubular acidosis.

A number of potential defects may impair acidification either directly or indirectly in the CCT, the OMCT, the IMCD, or in all segments. These defects are summarized in Table 1. Findings from studies in animal models of DRTA have enhanced out understanding of the pathophysiological basis of these disorders. Nevertheless, considerable effort needs to be directed in the future toward defining the cellular basis of these defects, especially in the inherited forms of classical hypokalemic DRTA, for which an adequate experimental model does not yet exist.

Acid-Base Equilibrium↗

PubMed1991

Pathogenesis of sudden unexplained nocturnal death (lai tai) and endemic distal renal tubular acidosis.

Sudden unexplained nocturnal death (SUND), a disorder of unknown cause that occurs in otherwise healthy young adults, mostly male, during their sleep, is prevalent in the north-east region of Thailand, where it has been known for generations as lai tai. It occurs in the same population and area where hypokalaemic periodic paralysis (HPP), endemic distal renal tubular acidosis (EdRTA), and renal stones are also endemic. SUND has occurred in families of patients with EdRTA, and HPP can present as sudden onset of muscle parlysis with potentially lethal cardiac arrhythmias and respiratory failure from severe hypokalaemia occurring in the middle of the night. Surveys in which serum and urinary potassium have been measured indicate a deficiency of the electrolyte in the population. Potassium deficiency is probably the prime factor responsible for SUND and HPP. Low urinary citrate concentrations and the high prevalence of acidification defects in the population indicate that potassium deficiency is also responsible for the prevalence of EdRTA and for renal stones.

Acidosis, Renal Tubular↗

PubMed1993

Metabolic bone disease (anticonvulsant osteomalacia) and renal tubular acidosis in tuberous sclerosis.

The characteristics triad of tuberous sclerosis-adenoma sebaceum, mental deficiency and epilepsy-associated with distal-type renal tubular acidosis was combined with anticonvulsant osteomalacia in a 41-year-old woman. In addition to the specific bone lesions of tuberous sclerosis, the bone disease was caused by an adverse effect of a drug and possibly also by the renal disorder leading to significant musculoskeletal disability. In response to calcium carbonicum and 1-25-dihydroxyvitamin D therapy the musculoskeletal disability healed and the abnormal biochemical markers of anticonvulsant osteomalacia disappeared. The present observation draws attention to the increased hazard threatening patients on chronic anticonvulsant therapy simultaneously suffering from renal diseases.

Acidosis, Renal Tubular↗

PubMedDate not supplied

Hepatitis and renal tubular acidosis after anesthesia with methoxyflurane.

A 69-year-old man operated for acute cholecystitis under methoxyflurane anesthesia developed postoperatively a hepatic insufficiency syndrome and renal tubular acidosis. Massive bleeding appeared during surgery which lasted for six hours. Postoperative evolution under supportive therapy was favourable. Complete recovery was confirmed by repeated controls performed over a period of one year after surgery.

Acidosis, Renal Tubular↗

PubMed1976

Distal renal tubular acidosis in children with chronic hydronephrosis.

The difference between the PCO2 of alkalinized urine and the PCO2 of blood has been proposed as an indirect means of assessing distal nephron H+ secretion. Following oral bicarbonate loading and alkalinization of the urine to pH greater than or equal to 7.2, eight of nine children with chronic hydronephrosis and four children with idiopathic distal RTA had low (U-B)PCO2 values when compared with seven normal subjects. This findings leads us to conclude that chronic hydronephrosis may cause a form of distal RTA which persists many years after surgical diversion procedures have been carried out.

Acidosis, Renal Tubular↗

PubMed1988

The syndrome of distal (type 1) renal tubular acidosis. Clinical and laboratory findings in 58 cases.

The clinical and laboratory findings in 14 infants, 2 children and 42 adults with RTA-1 have been retrospectively analyzed and the patients classified as having the hereditary (14%), acquired (31%), or idiopathic (55%) form. In 7 of the 8 hereditary cases, RTA-1 appeared to be a complication of hereditary hypercalciuria. The majority of acquired cases (61%) were secondary to immune-mediated diseases. All of the 14 infants with RTA-1 were classified as idiopathic. All of the idiopathic cases in children and adults were associated with nephrolithiasis and/or nephrocalcinosis, 33% of which had a family history of nephrolithiasis. The 14 infants presented with failure to thrive. Seventy-seven percent of children and adults with RTA-1 had nephrolithiasis and/or nephrocalcinosis and usually presented with symptoms related to this problem. Adults without nephrolithiasis or nephrocalcinosis usually presented with electrolyte disturbances or acidosis. Hypokalemia, the most common electrolyte disturbance, was present in 28% of the entire series. Acidosis was present in all infants and in 70% of children and adults. Clinically apparent bone disease was observed in 3 infants, and in 1 adult with nephrolithiasis. Glomerular function was normal in infants and in the 2 children, but depressed in 40% of adults. Recurrent urinary tract infection was a contributing factor but was not the sole cause of renal failure. Surprisingly, kidney stone number, the number of surgical procedures, and the presence of nephrocalcinosis had no apparent effect on the development of renal failure. Glomerular filtration rate was significantly higher in patients with incomplete RTA-1, and serum total CO2 was significantly correlated with creatinine clearance and minimum urinary pH. Hypercalciuria was present in 32% of patients with nephrolithiasis and/or nephrocalcinosis, and urinary citrate excretion was low in all of 16 patients in whom it was measured. Hypocitraturia appeared to be due in most cases to potassium depletion and renal failure, but may have occurred as a primary defect in 1 patient with hereditary RTA. Urinary uric acid excretion was elevated in 23% of patients with stones in whom it was measured. The mean number of stone-forming events was 51 +/- 14. Although a weak correlation between urinary calcium excretion and stone number was observed, the cause for prodigious stone formation could not be explained. This series emphasizes the variable degree to which the common clinical manifestations of RTA-1 (metabolic acidosis, hypercalciuria, nephrolithiasis, nephrocalcinosis, and potassium depletion) are expressed.(ABSTRACT TRUNCATED AT 400 WORDS)

Acidosis, Renal Tubular↗