scholarly journals Distal Renal Tubular Acidosis in Adolescence with Severe Growth Retardation and Nephrocalcinosis

2012 ◽  
Vol 52 (187) ◽  
Author(s):  
M R Sigdel ◽  
M P Kafle ◽  
K B Raut
Keyword(s):  
Metabolic Acidosis ◽  
Weight Gain ◽  
Renal Tubular Acidosis ◽  
Growth Retardation ◽  
Growth Velocity ◽  
Distal Renal Tubular Acidosis ◽  
Alkali Therapy ◽  
Renal Tubular ◽  
Severe Growth

Chronic acidosis is an important, often overlooked cause of growth retardation. Here we present the case of a girl with distal renal tubular acidosis who had visited multiple hospitals before the diagnosis was made. She presented to us in adolescence with non anion gap metabolic acidosis, hypokalemia, severe growth retardation and nephrocalcinosis. In 18 months follow up with alkali therapy, she had good weight gain and growth velocity. Keywords: growth retardation; hypokalemia; nephrocalcinosis; renal tubular acidosis.

scholarly journals Prospective long-term evaluation of incomplete distal renal tubular acidosis in idiopathic calcium nephrolithiasis diagnosed (treated) by low-dose NH4CL loading – gender prevalences and impact of alkali treatment

2022 ◽  
Author(s):  
Juri Sromicki ◽  
Georg Kacl ◽  
Malin Föhl ◽  
Bernhard Hess
Keyword(s):  
Calcium Phosphate ◽  
Renal Tubular Acidosis ◽  
Alkali Treatment ◽  
Distal Renal Tubular Acidosis ◽  
Urine Ph ◽  
Calcium Stone ◽  
Stone Formers ◽  
Alkali Therapy ◽  
Renal Tubular

Abstract Purpose Prospective evaluation of the prevalence of incomplete distal renal tubular acidosis (idRTA) in idiopathic calcium stone formers (ICSF) diagnosed by half-dose ammonium chloride loading (NH4Cl, 0.05 g/kg body weight/day) and impact of alkali treatment of idRTA. Methods Evaluation of 386 consecutive idiopathic calcium stone formers (ICSF) (280 males, 106 females) for idRTA. If screening fasting urine pH was > 5.80, 1-day NH4Cl loading was performed without severe adverse effects. Normally, urine pH falls below 5.45. Results Sixty-four idiopathic calcium stone formers exhibited idRTA, one complete dRTA. Prevalence was higher in women (25.4%) than in men (13.6%). Thus, for more equilibrated comparisons, we formed pairs of 62 idiopathic calcium stone formers (ICSF) with and 62 without idRTA, matched for gender, age, BMI and serum creatinine. Idiopathic calcium stone formers with idRTA more often had hypercalciuria (p < 0.025) and urine citrate < 2 mmol/d (p < 0.05), formed calcium phosphate stones more frequently, exhibited higher numbers of stones/year (1.4 ± 1.5 vs. 0.9 ± 0.8, p = 0.034) and 2.5 times more intrarenal calcifications (4.6 ± 5.9 vs. 1.8 ± 3.6, p = 0.002). All idiopathic calcium stone formers with idRTA were recommended chronic alkali therapy. After 4–15 years of follow-up, stone events /years follow-up (stone passage or urologic intervention) were higher in patients non-adherent to alkali therapy (0.61 ± 0.92) than in patients adherent to treatment (0.11 ± 0.21, p = 0.006). Conclusion Incomplete distal renal tubular acidosis is 1.8-fold more prevalent among female idiopathic calcium stone formers, predicts more stone recurrences, predisposes to calcium phosphate stones and is associated with 2.5 times more intrarenal calcifications vs. non-idRTA patients. Chronic alkali treatment reduces clinical stone recurrences by 5.5 times. Graphical abstract

Distal Renal Tubular Acidosis Associated with Concurrent Leptospirosis in a Dog

2014 ◽  
Vol 50 (3) ◽  
pp. 203-208 ◽  
Author(s):  
Stephen A. Martinez ◽  
Roger A. Hostutler
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Clinical Signs ◽  
Distal Renal Tubular Acidosis ◽  
The Other ◽  
Laboratory Evaluation ◽  
Alkaline Urine ◽  
Alkali Therapy ◽  
Renal Tubular

A 9 yr old spayed female boxer was presented for evaluation of vomiting, lethargy, anorexia, and weight loss. Initial laboratory evaluation revealed a hyperchloremic normal anion gap metabolic acidosis with alkaline urine that was consistent with a diagnosis of distal renal tubular acidosis (RTA). Targeted therapy was initiated with Na bicarbonate (HCO3) and potassium (K) gluconate. Leptospirosis was subsequently diagnosed with paired microagglutination testing (MAT), and doxycycline was added to the other treatments. Clinical signs resolved, and 6 mo after diagnosis, although the dog remained on alkali therapy (i.e., NaHCO3 and K gluconate) and a mild metabolic acidosis persisted, the dog remained otherwise healthy with a good quality of life. To the authors’ knowledge, this is the first report to describe the concomitant association of those two disorders. Leptospirosis should be considered for any case of RTA in dogs.

scholarly journals Acute Respiratory Failure Due to Hypokalaemic Muscular Paralysis from Renal Tubular Acidosis

2005 ◽  
Vol 33 (5) ◽  
pp. 656-658 ◽  
Author(s):  
S. Gombar ◽  
P. J. Mathew ◽  
K. K. Gombar ◽  
S. D'Cruz ◽  
G. Goyal
Keyword(s):  
Mechanical Ventilation ◽  
Metabolic Acidosis ◽  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Renal Tubular Acidosis ◽  
Cardiac Arrhythmias ◽  
Distal Renal Tubular Acidosis ◽  
Life Threatening ◽  
Renal Tubular ◽  
Potassium Replacement

We report a case of hypokalaemic quadriplegia with acute respiratory failure and life-threatening cardiac arrhythmias in a 26-year-old woman who was diagnosed to have distal renal tubular acidosis. She had persistent metabolic acidosis with severe hypokalaemia and required mechanical ventilation and potassium replacement. The anaesthetic implications of renal tubular acidosis are also discussed.

scholarly journals Metabolic acidosis in toluene sniffing

CJEM ◽  
2013 ◽  
Vol 15 (04) ◽  
pp. 249-252 ◽  
Author(s):  
Jon Tuchscherer ◽  
Habib Rehman
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Excretion Rate ◽  
Ammonia Excretion ◽  
Distal Renal Tubular Acidosis ◽  
Anion Gap ◽  
Renal Tubular ◽  
Conjugate Bases ◽  
Osmolal Gap ◽  
Ammonia Excretion Rate

ABSTRACT Toluene sniffing, frequently described under the generic category of “glue sniffing,” is a potential cause of normal anion gap metabolic acidosis due to distal renal tubular acidosis. Urine anion gap is used to diagnose metabolic acidosis of a normal anion gap variety; however, pitfalls exist when using urine anion gap in the setting of toluene sniffing. We present the case of a young woman who had a normal anion gap metabolic acidosis due to toluene sniffing and an unexpectedly low urine anion gap. In such a scenario, the urine anion gap will underestimate the rate of ammonia excretion when the conjugate bases of acids other than HCl are excreted in large quantities. Estimation of the urine osmolal gap will provide a more accurate ammonia excretion rate in these circumstances. The challenges in interpretation of the urine anion gap and ammonia excretion in the setting of distal renal tubular acidosis due to toluene toxicity are discussed.

Glue-sniffing and distal renal tubular acidosis: sticking to the facts.

1991 ◽  
Vol 1 (8) ◽  
pp. 1019-1027 ◽  
Author(s):  
E J Carlisle ◽  
S M Donnelly ◽  
S Vasuvattakul ◽  
K S Kamel ◽  
S Tobe ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Extracellular Fluid ◽  
Distal Renal Tubular Acidosis ◽  
Anion Gap ◽  
Acid Base ◽  
Major Question ◽  
The Subject ◽  
Renal Tubular ◽  
Sodium And Potassium

An index case is presented to introduce the subject of the acid-base and electrolyte abnormalities resulting from toluene abuse. These include metabolic acidosis associated with a normal anion gap and excessive loss of sodium and potassium in the urine. The major question addressed is, what is the basis for the metabolic acidosis? Overproduction of hippuric acid resulting from the metabolism of toluene plays a more important role in the genesis of the metabolic acidosis than was previously believed. This conclusion is supported by the observation that the rate of excretion of ammonium was not low during metabolic acidosis in six of eight patients, suggesting that distal renal tubular acidosis was not an important acid-base abnormality in most cases where ammonium was measured. The excretion of hippurate in the urine unmatched by ammonium also mandates an enhanced rate of excretion of the cations, sodium and potassium. The loss of sodium causes extracellular fluid volume contraction and a fall in the glomerular filtration rate, which may transform the normal anion gap type of metabolic acidosis into one with a high anion gap (accumulation of hippurate and other anions). Continuing loss of potassium in the urine leads to hypokalemia. An understanding of the metabolism of toluene provides the basis for the unusual biochemical abnormalities seen with abuse of this solvent.

scholarly journals Extrarenal Signs of Proximal Renal Tubular Acidosis Persist in Nonacidemic Nbce1b/c-Null Mice

2019 ◽  
Vol 30 (6) ◽  
pp. 979-989 ◽  
Author(s):  
Emily E. Salerno ◽  
Sangita P. Patel ◽  
Aniko Marshall ◽  
Jordan Marshall ◽  
Thamer Alsufayan ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Growth Retardation ◽  
Tooth Enamel ◽  
Genetic Locus ◽  
Corneal Edema ◽  
Enamel Organ ◽  
Alkali Therapy ◽  
Proximal Tubular ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

BackgroundThe SLC4A4 gene encodes electrogenic sodium bicarbonate cotransporter 1 (NBCe1). Inheritance of recessive mutations in SLC4A4 causes proximal renal tubular acidosis (pRTA), a disease characterized by metabolic acidosis, growth retardation, ocular abnormalities, and often dental abnormalities. Mouse models of pRTA exhibit acidemia, corneal edema, weak dental enamel, impacted colons, nutritional defects, and a general failure to thrive, rarely surviving beyond weaning. Alkali therapy remains the preferred treatment for pRTA, but it is unclear which nonrenal signs are secondary to acidemia and which are a direct consequence of NBCe1 loss from nonrenal sites (such as the eye and enamel organ) and therefore require separate therapy. SLC4A4 encodes three major NBCe1 variants: NBCe1-A, NBCe1-B, and NBCe1-C. NBCe1-A is expressed in proximal tubule epithelia; its dysfunction causes the plasma bicarbonate insufficiency that underlies acidemia. NBCe1-B and NBCe1-C exhibit a broad extra-proximal-tubular distribution.MethodsTo explore the consequences of Nbce1b/c loss in the absence of acidemia, we engineered a novel strain of Nbce1b/c-null mice and assessed them for signs of pRTA.ResultsNbce1b/c-null mice have normal blood pH, but exhibit increased mortality, growth retardation, corneal edema, and tooth enamel defects.ConclusionsThe correction of pRTA-related acidemia should not be considered a panacea for all signs of pRTA. The phenotype of Nbce1b/c-null mice highlights the physiologic importance of NBCe1 variants expressed beyond the proximal tubular epithelia and potential limitations of pH correction by alkali therapy in pRTA. It also suggests a novel genetic locus for corneal dystrophy and enamel hypomineralization without acidemia.

scholarly journals Results of a Gene Panel Approach in a Cohort of Patients with Incomplete Distal Renal Tubular Acidosis and Nephrolithiasis

2021 ◽  
pp. 1-6
Author(s):  
Viola D’Ambrosio ◽  
Alessia Azzarà ◽  
Eugenio Sangiorgi ◽  
Fiorella Gurrieri ◽  
Bernhard Hess ◽  
...  
Keyword(s):  
Metabolic Acidosis ◽  
Genetic Testing ◽  
Renal Tubular Acidosis ◽  
Distal Renal Tubular Acidosis ◽  
Tubular Dysfunction ◽  
Urine Ph ◽  
Cross Sectional ◽  
Urinary Acidification ◽  
Stone Formers ◽  
Renal Tubular

<b><i>Background:</i></b> Distal renal tubular acidosis (dRTA) is characterized by an impairment of urinary acidification resulting in metabolic acidosis, hypokalemia, and inappropriately elevated urine pH. If not treated, this chronic condition eventually leads to nephrocalcinosis, nephrolithiasis, impaired renal function, and bone demineralization. dRTA is a well-defined entity that can be diagnosed by genetic testing of 5 genes known to be disease-causative. Incomplete dRTA (idRTA) is defined as impaired urinary acidification that does not lead to overt metabolic acidosis and therefore can be diagnosed if patients fail to adequately acidify urine after an ammonium chloride (NH<sub>4</sub>Cl) challenge or furosemide and fludrocortisone test. It is still uncertain whether idRTA represents a distinct entity or is part of the dRTA spectrum and whether it is caused by mutations in the same genes of overt dRTA. <b><i>Methods:</i></b> In this cross-sectional study, we investigated a group of 22 stone formers whose clinical features were suspicious of idRTA. They underwent an NH<sub>4</sub>Cl challenge and were found to have impaired urinary acidification ability. These patients were then analyzed by genetic testing with sequencing of 5 genes: <i>SLC4A1</i>, <i>ATP6V1B1</i>, <i>ATP6V0A4</i>, <i>FOXI1</i>, and <i>WDR72</i>. <b><i>Results:</i></b> Two unrelated individuals were found to have two different variants in <i>SLC4A1</i> that had never been described before. <b><i>Conclusions:</i></b> Our results suggest the involvement of other genes or nongenetic tubular dysfunction in the pathogenesis of idRTA in stone formers. However, genetic testing may represent a cost-effective tool to recognize, treat, and prevent complications in these patients.

scholarly journals Acidose Tubular Renal Distal: Expressão Clínica Variável na Mesma Família

2019 ◽  
Vol 32 (7-8) ◽  
pp. 542
Author(s):  
Daniela Ramos ◽  
Sofia Reis ◽  
Carolina Cordinhã ◽  
Carmen Do Carmo ◽  
Clara Gomes ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Chronic Renal Disease ◽  
Genetic Disorder ◽  
Distal Renal Tubular Acidosis ◽  
Arterial Blood Gas ◽  
Arterial Blood ◽  
First Case ◽  
Hyperchloremic Metabolic Acidosis ◽  
Renal Tubular

Primary distal renal tubular acidosis is a genetic disorder characterized by the inability in acidification of urine. Symptoms are usually non-specific and highly variable. We described six cases in a family with four generations affected. The first case was diagnosed in a 3-year-old child presenting with hematuria and urolithiasis. Later, his sister, sons and two nephews were studied. Although asymptomatic, they all had nephrocalcinosis and hyperchloremic metabolic acidosis with normal anionic gap, except one case with normal arterial blood gas test but with nephrocalcinosis and inability of urinary acidification. At follow-up, they all maintained nephrocalcinosis, the index case had acute renal damage and developed hypertension, but none developed chronic renal disease. The diagnosis of autosomal dominant distal renal tubular acidosis is generally made later and patients tend to present with milder disease. But the condition may manifest early and have a variable phenotypic severity spectrum. Carrying out screening through assessment of family history enables an earlier diagnosis while also allowing treatment to start sooner.

Sign in / Sign up

Export Citation Format

Share Document