- [CME: Ethylene Glycol Intoxication]. [Journal Article]
- PPraxis (Bern 1994) 2018; 107(20):1097-1106
- CME: Ethylene Glycol Intoxication Abstract. Ethylene glycol is a sweet-tasting alcohol used in common antifreeze and other industrial solutions. Without appropriate therapy, intoxication with ethylen...
CME: Ethylene Glycol Intoxication Abstract. Ethylene glycol is a sweet-tasting alcohol used in common antifreeze and other industrial solutions. Without appropriate therapy, intoxication with ethylene glycol can result in severe metabolic acidosis, acute renal failure, and in death. After gastrointestinal resorption, hepatic metabolism starts with oxidation by alcohol dehydrogenase and results in severe anion gap metabolic acidosis. Other metabolic products are calcium oxalate crystals, which can deposit in several tissues like the kidneys and lead to acute tubular necrosis with reversible renal failure. The crucial therapeutic step is rapid inhibition of alcohol dehydrogenase with fomepizole or ethanol to avoid the formation of toxic metabolites. Additionally, haemodialysis is the most effective way to eliminate ethylene glycol as well as its toxic metabolites. If therapy is initiated rapidly, prognosis is favorable.
- [Nephrocalcinosis and proximal tubulopathy in Sjögren's Syndrome.] [Journal Article]
- RFRev Fac Cien Med Univ Nac Cordoba 2018 06 30; 75(2):139-142
- Primary Sjögren's syndrome is a systemic and chronic autoimmune disease. Renal involvement may occur in up to 30% of patients. The incidence of tubulopathies ranges from 2.6 to 33%. They are manifest...
Primary Sjögren's syndrome is a systemic and chronic autoimmune disease. Renal involvement may occur in up to 30% of patients. The incidence of tubulopathies ranges from 2.6 to 33%. They are manifested by defects in the urine concentration and hydroelectrolyte alterations, mainly distal tubular acidosis and exceptionally proximal tubular acidosis. These disorders can be associated with nephrocalcinosis and renal lithiasis. We report the case of a patient with primary Sjögren who presented proximal renal tubular acidosis associated with recurrent renal colic due to renal lithiasis and nephrocalcinosis. We highlight the importance of diagnosing renal tubular acidosis in patients with Sjögren's syndrome that present alterations in urinary sediment and electrolyte disorders to avoid nephrocalcinosis and nephrolithiasis. Acidosis correction treatment aims to prevent the progression of the disorder and preserve renal function.
- Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. [Journal Article]
- JPJ Pediatr Neurosci 2018 Jul-Sep; 13(3):362-365
- Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as f...
Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as fatty acid oxidation (FAO) disorders. FAO related disorders have variable clinical presentation and manifest in different ages. They may present with hypoglycemia, effort intolerance, multi organ involvement with or without ketonuria. High degree of suspicion and appropriate investigations are mandatory for diagnosis. Here we describe an 11 Year old boy, born to non - consanguineous parents. Presented with exertion induced muscle pain and fatigue of 1year duration, which slowly progressed to severe weakness and vomiting. His reflexes were retained. Therefore metabolic vs inflammatory muscle diseases were considered. Patient had ketonuria with elevated blood levels of medium chain acyl carnitine and long chain acyl carnitine suggestive of MADD. Urine organic acid assessment showed elevated excretion of 2-hydroxyglutarate (2HG), adipate and arabitol. Muscle biopsy showed multiple fine vacuoles on Eosin- hematoxylin stained preparation. Modified Gomori - trichrome stain showed vacuolated fibers with red granular material consistent with ragged red fibers. Oil Red O stains showed vacuolated fibers with 'oil red O' positive material suggesting lipid storage. Above combination of features is consistent of MADD. Genetic evaluation is not done due to financial constraint. Patient was started on high dose riboflavin and carnitine, with which the child became near normal. Our patient is a case of MADD presenting as Reye's syndrome like features and showed excellent response to riboflavin, carnitine, dietary and life style changes. High degree of suspicion is lifesaving.
- Spectrum of Hypokalemic Paralysis from a Tertiary Care Center in India. [Journal Article]
- IJIndian J Nephrol 2018 Sep-Oct; 28(5):365-369
- Hypokalemic paralysis is an important and reversible cause of acute flaccid paralysis. The treating physician faces unique diagnostic and therapeutic challenges. We did a prospective study and includ...
Hypokalemic paralysis is an important and reversible cause of acute flaccid paralysis. The treating physician faces unique diagnostic and therapeutic challenges. We did a prospective study and included all patients with acute flaccid weakness and documented serum potassium of <3.5 mEq/L during the period between January 2009 and August 2015. We studied the incidence, etiology, clinical profile, and acid-base disturbances in patients presenting with hypokalemic paralysis and analyzed the significance of periodic and non-periodic forms of hypokalemic paralysis on patient's outcome. Two hundred and six patients were studied with a mean follow-up of 3.6 ± 1.2 years. Mean age was 37.61 ± 2.2 years (range 18-50 years). Males were predominant (M:F ratio 2.1:1). The nonperiodic form of hypokalemic paralysis was the most common (61%). Eighty-one (39%) patients had metabolic acidosis, 78 (38%) had normal acid-base status, and 47 (23%) patients had metabolic alkalosis. The most common secondary cause was distal renal tubular acidosis (RTA) (n = 75, 36%), followed by Gitelman syndrome (n = 39, 18%), thyrotoxic paralysis (n = 8, 4%), hyperaldosteronism (n = 7, 3%), and proximal RTA (n = 6, 4%). Patients with non-periodic paralysis had more urinary loss (40.1 vs. 12.2 mmol, P = 0.04), more requirement of potassium replacement (120 vs. 48 mmol, P = 0.05), and longer recovery time of weakness (48.1 vs. 16.5 h, P = 0.05) than patients with periodic paralysis. Non-periodic form of hypokalemic paralysis was the most common variant in our study. Patients with periodic paralysis had significant incidence of rebound hyperkalemia.
- Five Novel Mutations in Chinese Children with Primary Distal Renal Tubular Acidosis. [Journal Article]
- GTGenet Test Mol Biomarkers 2018 Sep 25
- CONCLUSIONS: In the present study we identified 7 mutations, including 5 novel variants, in the three genes previously correlated with dRTA, enriching the human gene mutation database (HGMD). In addition, our lack of findings in these three genes for patient V suggests that other genes may contribute to dRTA in some cases.
- Clinical and genetic analysis of distal renal tubular acidosis in three Chinese children. [Journal Article]
- RFRen Fail 2018; 40(1):520-526
- CONCLUSIONS: We report the clinical and molecular characteristics of dRTA patients from China. The four novel mutations detected in our study extend the spectrum of gene mutations associated with primary dRTA. Furthermore, our study confirms the effect of early treatment in improving growth for dRTA patient and provides insight into the effects of rhGH on dRTA patients who were diagnosed late and exhibiting a persistent growth delay despite appropriate therapy.
- Acquired Fanconi syndrome secondary to light chain deposition disease associated with monoclonal gammopathy of renal significance: A case report. [Case Reports]
- MMedicine (Baltimore) 2018; 97(36):e12027
- CONCLUSIONS: Although few cases of LCDD with isolated symptoms of tubulointerstitial nephropathy, rather than glomerular symptoms have been reported. It still needs to be recognized as a differential diagnosis in monoclonal gammopathy.
- Oral manifestations of renal tubular acidosis associated with secondary rickets: case report. [Journal Article]
- JBJ Bras Nefrol 2018 Sep 06
- This report describes the oral manifestations of renal tubular acidosis (RTA) associated with secondary rickets and discusses the biological plausibility of these findings. The characteristic electro...
This report describes the oral manifestations of renal tubular acidosis (RTA) associated with secondary rickets and discusses the biological plausibility of these findings. The characteristic electrolyte changes during RTA or genetic mutations that trigger RTA may be responsible for impaired amelogenesis, dental malocclusion, impacted teeth, and absent lamina dura. This report reinforces the possibility of an association between RTA and the oral manifestations described.
- Ibuprofen Abuse-A Case of Rhabdomyolysis, Hypokalemia, and Hypophosphatemia With Drug-Induced Mixed Renal Tubular Acidosis. [Journal Article]
- KIKidney Int Rep 2018; 3(5):1237-1238
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- [Osteopetrosis, renal tubular acidosis, cerebral calcifications: a familial case]. [Journal Article]
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