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 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 A clinical case of renal tubular acidosis type 1 in a 1-month old baby

2017 ◽  
Vol 98 (1) ◽  
pp. 129-131
Author(s):  
E V Voljanjuk ◽  
I J Lutfullin
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Rare Case ◽  
Metabolic Disorders ◽  
Hydrogen Ions ◽  
Distal Nephron ◽  
First Onset ◽  
Life Threatening ◽  
Renal Tubular

Renal tubular acidosis is a group of tubular diseases of the kidneys, whiсh are characterized by disorders of bicarbonate reabsorption, secretion of hydrogen ions, or a combination of both defects and cause metabolic acidosis with preserved glomerular filtration. Distal renal tubular acidosis is characterized by severe hyperchloraemic metabolic acidosis due to impaired excretion of hydrogen ions in the distal nephron. The prevalence of the primary distal renal acidosis is 1:40 000. Most often the first onset of the disease occurs at the age of 6 months to 2 years. The article presents a rare case of tubular acidosis type 1 in a child at the age of 1 month and 5 days. The presented case demonstrates that renal tubular acidosis can clinically manifest in children during the first months of life leading even at this age to severe metabolic disorders requiring certain raised level of suspicion for this pathology. Rarity of distant tubular acidosis is one of the factors predisposing to difficulty and tardiness of its diagnosis that leads to early disability and high risk of life-threatening conditions.

Hypokalaemic quadriparesis with respiratory failure due to latent Sjogren syndrome

2021 ◽  
Vol 14 (7) ◽  
pp. e243057
Author(s):  
Archita Makharia ◽  
Manoj Lakhotia ◽  
Mudita Gupta ◽  
Pradeep Lalwani
Keyword(s):  
Respiratory Failure ◽  
Autoimmune Disease ◽  
Renal Tubular Acidosis ◽  
Respiratory Muscle ◽  
Sudden Onset ◽  
Distal Renal Tubular Acidosis ◽  
Sjogren Syndrome ◽  
Muscle Paralysis ◽  
Multiple Organs ◽  
Renal Tubular

Sjogren’s syndrome (SS) is an autoimmune disease with involvement of multiple organs, including both glandular and extraglandular organs. Usually involvement of glandular organs manifests before the extraglandular ones, but when the sequence is reversed, diagnosis may be missed. Hypokalaemic quadriparesis in SS is not uncommon. Respiratory failure in hypokalaemia is not usually seen, but in SS, it has been reported. We report a case of a 55-year-old woman who presented with sudden onset flaccid quadriparesis and respiratory muscle paralysis secondary to severe hypokalaemia. On detailed investigation, she was detected to have distal renal tubular acidosis secondary to clinically inapparent and asymptomatic SS.

Hypokalemic Muscular Paralysis Causing Acute Respiratory Failure Due to Rhabdomyolysis with Renal Tubular Acidosis in a Chronic Glue Sniffer

2000 ◽  
Vol 38 (6) ◽  
pp. 679-681 ◽  
Author(s):  
Kuo-Chin Kao ◽  
Ying-Huang Tsai ◽  
Meng-Chih Lin ◽  
Chung-Chi Huang ◽  
Thomas Chang-Yao Tsao ◽  
...  
Keyword(s):  
Respiratory Failure ◽  
Acute Respiratory Failure ◽  
Renal Tubular Acidosis ◽  
Renal Tubular

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 Clinical and Molecular Findings in a Moroccan Family with Primary Distal Renal Tubular Acidosis and Deafness by Mutation of ATP60A4 Gene: Case Report

2021 ◽  
pp. 9-14
Author(s):  
Nadia Mebrouk ◽  
Rachid Abilkassem ◽  
Aomar Agadr
Keyword(s):  
Metabolic Acidosis ◽  
Renal Tubular Acidosis ◽  
Collecting Duct ◽  
Gene Mutations ◽  
Recessive Gene ◽  
Failure To Thrive ◽  
Distal Renal Tubular Acidosis ◽  
Tubular Dysfunction ◽  
Dominant Form ◽  
Renal Tubular

Primary distal renal tubular acidosis (dRTA) is a rare genetic disease characterized by distal tubular dysfunction leading to metabolic acidosis and alkaline urine.  It is associated with impaired acid excretion by the intercalated cells in the renal collecting duct.  dRTA is developed during the first months of life and the main clinical and biologic features are failure to thrive, vomiting, dehydration, anorexia, hyperchloremic non-anion gap metabolic acidosis, hypocitraturia, hypercalciuria and nephrocalcinosis.  The disease is caused by defects in genes involved in urinary distal acidification: ATP6V0A4 and ATP6V1B1 for the recessive form, and SLC4A1 for the dominant form.  Some dRTA cases due to recessive gene mutations are associated with hearing impairment. We report the case of two siblings with dRTA, and early-onset SNHL, due to ATP6V0A4 mutations, and whose parents are heterozygous carriers of ATP6V0A4 mutations.

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