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Renal Tubular Acidosis Uptodate

Combined Renal Tubular Acidosis And Diabetes Insipidus In Hematological Disease

Combined Renal Tubular Acidosis And Diabetes Insipidus In Hematological Disease

Combined renal tubular acidosis and diabetes insipidus in hematological disease Ewout J Hoorn is an Internal Medicine Resident and Nephrology Research Fellow at Erasmus Medical Center. His research interests include basic and clinical aspects of fluid and electrolyte disorders. He trained with Dr ML Halperin at the University of Toronto, ON, Canada, and with Dr MA Knepper at the Laboratory of Kidney and Electrolyte Metabolism, National Institutes of Health, Bethesda, MD, USA. In 2005, he received a Young Investigator Award at the International Conference on Aquaporins in Brussels, Belgium. Robert Zietse is a Consultant Nephrologist and Program Director of Nephrology at Erasmus Medical Center, Rotterdam, The Netherlands. He has authored on more than 70 scientific articles on hemodialysis, transplantation, and fluid and electrolyte disorders. He is the Secretary of the International Society for Blood Purification (ISBP), and was the President of the ISBP meeting 2005 in Rotterdam. He is on the scientific committee of the Dutch Kidney Foundation. Dr Zietse has received several teaching awards from the Erasmus University medical school. Nature Clinical Practice Nephrology volume 3, pages 171175 (2007) Background A 39-year-old male with multiple myeloma was admitted for treatment with melphalan and autologous stem cell reinfusion. He presented with hypokalemia and hyperchloremic non-anion-gap metabolic acidosis with a high urinary pH. He also had hypomagnesemia, hypophosphatemia, hypouricemia, proteinuria and glucosuria. The patient subsequently developed polyuria with a low urine osmolality, hypernatremia and, finally, acute renal failure. Investigations Physical examination, blood and urine analyses, kidney biopsy and tonicity balance. Diagnosis Fanconi syndrome with prox Continue reading >>

Lowe Syndrome: Case Report | Bahor | Slovenian Medical Journal

Lowe Syndrome: Case Report | Bahor | Slovenian Medical Journal

Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation. oculocerebrorenal syndrome; Fanconi syndrome; metabolic acidosis; proteinuria; child Bkenkamp A, Ludwig M. The oculocerebrorenal syndrome of Lowe: an update. Pediatric Nephrology. 2016;31(12):220112. Recker F, Zaniew M, Bckenhauer D, Miglietti N, Bkenkamp A, Moczulska A, et al. Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatric Nephrology. 2014;30(6):93143. Sugimoto K, Nishi H, Miyazawa T, Fujita S, Okada M, Takemura T. A Novel OCRL1 Mutation in a Patient with the Mild Phenotype of Lowe Syndrome. The Tohoku Journal of Experimental Medicine. 2014;232(3):1636. Lewis RA, Nussbaum RL, Brewer ED. Lowe Syndrome. Seattle: GeneReviews; 2012. [cited 2016 Aug 9] Available from: Al-Uzri A, Steiner RD, Wasserstein MP, Fenton CL. Oculocerebrorenal Dystrophy (Lowe Syndrome). Medscape; 2014. [cited 2017 Jan 6] Available from: Butani L. Hydrochlorothiazide reduces urinary calcium excretion in a child with Lowe syndrome. Clinical Kidney Journal. 2015;8(4):45961. Bockenhauer D, Bokenkamp A, van't Hoff W, Levtchenko E, Kist-van Holthe JE, Tasic V, et al. Renal Phenotype in Lowe Syndrome: A Selective Proximal Tubular Dysfunction. Clin Continue reading >>

Hypocalcemia & Proximal Renal Tubular Acidosis: Causes & Diagnoses | Symptoma.com

Hypocalcemia & Proximal Renal Tubular Acidosis: Causes & Diagnoses | Symptoma.com

"Proximal renal tubular acidosis. A defect in bicarbonate reabsorption with normal urinary acidification". Pediatr. [en.wikipedia.org] Type 4 RTA , or hyperkalemic renal tubular acidosis , is caused by a transport disorder in the distal tubule. [kidshealth.org] TUBULAR ACIDOSIS (RTA) Type 1 distal Type 2 proximal Type 4 Defect reduced H excretion in distal tubule impaired HCO3 reabsorption in proximal tubule impaired cation exchange [lifeinthefastlane.com] As the disease progresses copper deposition leads to vacuolar degeneration in the proximal tubular cells of the kidneys which causes a renal Fanconi syndrome (substances that [themedicalbiochemistrypage.org] Kidneys: renal tubular acidosis (Type 2), a disorder of bicarbonate handling by the proximal tubules leads to nephrocalcinosis (calcium accumulation in the kidneys), a weakening [en.wikipedia.org] In rarer cases, WD may manifest with abnormalities of other organ systemsnamely, renal tubular abnormalities, arthropathy, and cardiomyopathy with dysrhythmias. [clevelandclinicmeded.com] Distal renal tubular acidosis ( dRTA ) or Type 1 renal tubular acidosis ( RTA ) is the classical form of RTA, being the first described. [en.wikipedia.org] Serum electrolytes showed hypocalcemia (7.2 mg/dl), hypophosphatemia (2.8 mg/dl) with normal serum magnesium and sodium. [indianjnephrol.org] Hypocalcemia Urine Urine pH 5.5 Urinary pH does not fall below 5.3 following oral administration of ammonium chloride ( acid load test ). [amboss.com] See also Renal tubular acidosis Distal renal tubular acidosis References Rodriguez Soriano J, Boichis H, Stark H, Edelmann CM (1967). "Proximal renal tubular acidosis. [ipfs.io] Hypocalcemia Urine Urine pH 5.5 Urinary pH does not fall below 5.3 following oral administration of ammonium chloride Continue reading >>

Distal Renal Tubular Acidosis In A Seven-week Pregnant Woman: Diagnosis, Complications And Treatments

Distal Renal Tubular Acidosis In A Seven-week Pregnant Woman: Diagnosis, Complications And Treatments

Nefrologia (English Version) 2011;31:761-3 | doi: 10.3265/Nefrologia.pre2011.Oct.11123 Distal renal tubular acidosis in a seven-week pregnant woman: Diagnosis, complications and treatments Acidosis tubular renal distal en una gestante de 7 semanas: diagnstico, complicaciones y tratamiento. a Servicio de Nefrolog??a, Hospital La Mancha Centro, Alc??zar de San Juan, Ciudad Real, b Servicio de Radiolog??a, Hospital La Mancha Centro, Alc??zar de San Juan, Ciudad Real, Distal renal tubular acidosis (RTA) is a relatively uncommon tubulopathy that is characterised by hyperchloremic metabolic acidosis, hypokalaemia, elevated urine pH (>5.5), and a negative anion gap. Early diagnosis can facilitate providing adequate treatment, which avoids potentially severe complications. Here we present the case report of a gestating mother (7 weeks) diagnosed with RTA. We treated a 28-year old pregnant woman (7 weeks gestation) that sought emergency treatment for intense weakness with vomiting and abdominal pain. She had a history of rhabdomyolysis secondary to severe hypokalaemia of an unknown cause, bilateral nephrocalcinosis, and nephrolithiasis (Figure 1). We reviewed the patients previous laboratory results and observed that she had hyperchloremic metabolic acidosis and hypokalaemia with persistently alkaline urine pH with several years evolution. Upon arrival in the emergency room, she had: AHT: 103/71mm Hg, HR: 78 systoles, deep abdominal palpation produced pain in the left hypochondria and fossa, with positive left renal percussion. Blood analysis highlighted a pH of 7.18, bicarbonate at 12.4mmol/L with normal plasma anion gap, PCO2 at 35mm Hg, K+ at 3.3meqL, chlorine at 121 meq/l, creatinine at 0.62mg/dl, calcium at 8.3mg/dl, albumin at 3.3g/dl, and phosphorous at 3.6mg/dl. The uri Continue reading >>

Diabetes Mellitus And Hyperkalemic Renal Tubular Acidosis: Case Reports And Literature Review

Diabetes Mellitus And Hyperkalemic Renal Tubular Acidosis: Case Reports And Literature Review

Diabetes mellitus and hyperkalemic renal tubular acidosis: case reports and literature review Carlos Henrique Pires Ratto TavaresBello 1 Hyporeninemic hypoaldosteronism, despite being common, remains an underdiagnosed entity that is more prevalent in patients with diabetes mellitus. It presents with asymptomatic hyperkalemia along with hyperchloraemic metabolic acidosis without significant renal function impairment. The underlying pathophysiological mechanism is not fully understood, but it is postulated that either aldosterone deficiency (hyporeninemic hypoaldosteronism) and/or target organ aldosterone resistance (pseudohypoaldosteronism) may be responsible. Diagnosis is based on laboratory parameters. Treatment strategy varies according to the underlying pathophysiological mechanism and etiology and aims to normalize serum potassium. Two clnical cases are reported and the relevant literature is revisited. Keywords:acidosis; acidosis, renal tubular; diabetes mellitus; hyperkalemia; hypoaldosteronism Renal tubular acidosis (RTA) comprises relatively frequent forms of hyperchloremic metabolic acidosis. This medical condition is underdiagnosed and poorly understood due to the complexity of the involved pathophysiological mechanisms. It is characterized by the occurrence of hyperchloremic metabolic acidosis, fluid and electrolyte balance disorders (involving potassium in particular), and absence of significant renal impairment. The glomerular filtration rate (GFR) of affected individuals is relatively preserved, while tubular impairment is the main element responsible for the observed alterations. Renal tubular acidosis is divided into three forms of involvement: Type 1 RTA (distal RTA) - impaired distal hydrogen ion secretion. Type 2 RTA (proximal RTA) - impaired proxima Continue reading >>

Biochemical Investigations In Laboratory Medicine > Renal & Electrolytes > Renal Tubular Acidosis

Biochemical Investigations In Laboratory Medicine > Renal & Electrolytes > Renal Tubular Acidosis

This is an indirect method for measuring urine [ammonia] and can be measured on a random urine sample. It is only valid when the urine pH < 6.5 as at greater pH, urine bicarbonate is a significant anion. UAG = [urine Na] + [urine K] - [urine Cl] The use of the UAG as an estimate of urine ammonium ion is disputed by some investigators (Kirschbaum et al) FE can be assessed on a random urine sample. Take care to ensure that the sample container is full and there is a minimum air space available for loss of bicarbonate by evaporation. FE (HCO3) = (plasma HCO3 * urine creatinine) / (plasma creatinine * urine HCO3) NB ensure that creatinine and bicarbonate are in the same units. Hypokalamia, or chronic acidosis may prevent normal urinary acidification and urine pH will be > 5.5, due to increased tubular ammoniagenesis. Hyponatraemia may also prevent acidification due to reduced cation available for exchange in the distal tubules. Urine citrate (adults) 1.6 - 4.5 mmol / 24 hours or > 100 mol / mmol creatinine on random urine. Urine citrate (children) > 75 (males) > 177 (females) mol / mmol creatinine on random urine. Urine ammonia (adults) 36 - 99 mol / min / 1.73 m2 Urine ammonia (children under 15 years) 49 - 119 mol / min / 1.73 m2 Kirschbaum B, Sica D, Anderson P. Urine electrolytes and the urine anion and osmolar gaps. J Lab Clin Med 1999;133:597-604. Penney MD, Oleesky DA. Renal tubular acidosis. Ann Clin Biochem 1999;36:408-22. Emmett M. Pathophysiology of renal tubular acidosis and the effect on potassium balance. UpToDate Aug 26, 2013 Continue reading >>

Renal Tubular Acidosis | Definition Of Renal Tubular Acidosis By Medical Dictionary

Renal Tubular Acidosis | Definition Of Renal Tubular Acidosis By Medical Dictionary

Renal tubular acidosis | definition of renal tubular acidosis by Medical dictionary Renal tubular acidosis (RTA) is a condition characterized by too much acid in the body due to a defect in kidney function. Chemical balance is critical to the body's functioning. Therefore, the body controls its chemicals very strictly. The acid-base balance must be between a pH of 7.35 and 7.45 or trouble will start. Every other chemical in the body is affected by the acid-base balance. The most important chemicals in this system are sodium, chloride, potassium, calcium, ammonium, carbon dioxide, oxygen, and phosphates. The lungs rapidly adjust acid-base balance by the speed of breathing, because carbon dioxide dissolved in water is an acidcarbonic acid. Faster breathing eliminates more carbon dioxide, decreases the carbonic acid in the blood and increases the pH. Holding your breath does the opposite. Blood acidity from carbon dioxide controls the rate of breathing, not oxygen. The kidneys also regulate acid-base balance somewhat more slowly than the lungs. They handle all the chemicals, often trading one for another that is more or less acidic. The trading takes place between the blood and the urine, so that extra chemicals end up passing out of the body. If the kidneys do not effectively eliminate acid, it builds up in the blood, leading to a condition called metabolic acidosis . These conditions are called renal tubular acidosis. There are three types of renal tubular acidosis. They include: Distal renal tubular acidosis (type 1) may be a hereditary condition or may be triggered by an autoimmune disease, lithium therapy, kidney transplantation , or chronic obstruction. Proximal renal tubular acidosis (type 2) is caused by hereditary diseases, such as Fanconi's syndrome, fructose in Continue reading >>

Renal Tubular Acidosis

Renal Tubular Acidosis

Significant bilateral nephrocalcinosis (calcification of the kidneys) on a frontal X-ray (radiopacities (white) in the right upper and left upper quadrant of the image), as seen in distal renal tubular acidosis. Renal tubular acidosis (RTA) is a medical condition that involves an accumulation of acid in the body due to a failure of the kidneys to appropriately acidify the urine . [1] In renal physiology , when blood is filtered by the kidney, the filtrate passes through the tubules of the nephron , allowing for exchange of salts , acid equivalents, and other solutes before it drains into the bladder as urine . The metabolic acidosis that results from RTA may be caused either by failure to reabsorb sufficient bicarbonate ions (which are alkaline ) from the filtrate in the early portion of the nephron (the proximal tubule ) or by insufficient secretion of hydrogen ions (which are acidic) into the latter portions of the nephron (the distal tubule ). Although a metabolic acidosis also occurs in those with renal insufficiency , the term RTA is reserved for individuals with poor urinary acidification in otherwise well-functioning kidneys. Several different types of RTA exist, which all have different syndromes and different causes. The word acidosis refers to the tendency for RTA to cause an excess of acid , which lowers the blood's pH . When the blood pH is below normal (7.35), this is called acidemia . The metabolic acidosis caused by RTA is a normal anion gap acidosis . Failure of proximal tubular cells to reabsorb H C O 3 Deficiency of aldosterone , or a resistance to its effects, ( hypoaldosteronism or pseudohypoaldosteronism ) Main article: Distal renal tubular acidosis Radiograph of a child with rickets , a complication of both distal and proximal RTA. Distal RTA (dRT Continue reading >>

Pathogenesis, Consequences, And Treatment Of Metabolic Acidosis In Chronic Kidney Disease

Pathogenesis, Consequences, And Treatment Of Metabolic Acidosis In Chronic Kidney Disease

The content on the UpToDate website is not intended nor recommended as a substitute for medical advice, diagnosis, or treatment. Always seek the advice of your own physician or other qualified health care professional regarding any medical questions or conditions. The use of this website is governed by the UpToDate Terms of Use ©2018 UpToDate, Inc. All topics are updated as new evidence becomes available and our peer review process is complete. INTRODUCTION — Most individuals produce approximately 15,000 mmol (considerably more with exercise) of carbon dioxide and 50 to 100 meq of nonvolatile acid each day. Acid-base balance is maintained by normal elimination of carbon dioxide by the lungs (which affects the partial pressure of carbon dioxide [PCO2]) and normal excretion of nonvolatile acid by the kidneys (which affects the plasma bicarbonate concentration). The hydrogen ion concentration of the blood is determined by the ratio of the PCO2 and plasma bicarbonate concentration. (See "Simple and mixed acid-base disorders", section on 'Introduction'.) Acidosis associated with chronic kidney disease (CKD) will be discussed in this topic. An overview of simple acid-base disorders and renal tubular acidosis, as well as the approach to patients with metabolic acidosis, are presented elsewhere. (See "Simple and mixed acid-base disorders" and "Overview and pathophysiology of renal tubular acidosis and the effect on potassium balance" and "Approach to the adult with metabolic acidosis" and "Approach to the child with metabolic acidosis".) ACID-BASE BALANCE IN CHRONIC KIDNEY DISEASE — Acid-base balance is normally maintained by the renal excretion of the daily acid load (about 1 meq/kg per day, derived mostly from the generation of sulfuric acid during the metabolism of sulf Continue reading >>

Everything You Need To Know About Distal Renal Tubular Acidosis In Autoimmune Disease

Everything You Need To Know About Distal Renal Tubular Acidosis In Autoimmune Disease

Everything you need to know about distal renal tubular acidosis in autoimmune disease Robert Zietse , Ewout J. Hoorn , P. Martin van Hagen , Virgil A. S. H. Dalm , Jan A. M. van Laar , and Paul L. A. van Daele Division of Clinical Immunology, Department of Internal Medicine, Erasmus Medical Centre, PO Box 2040, Room D-XXX, 3000 CA Rotterdam, The Netherlands Division of Clinical Immunology, Department of Internal Medicine, Erasmus Medical Centre, PO Box 2040, Room D-XXX, 3000 CA Rotterdam, The Netherlands Division of Clinical Immunology, Department of Internal Medicine, Erasmus Medical Centre, PO Box 2040, Room D-XXX, 3000 CA Rotterdam, The Netherlands Division of Clinical Immunology, Department of Internal Medicine, Erasmus Medical Centre, PO Box 2040, Room D-XXX, 3000 CA Rotterdam, The Netherlands Division of Clinical Immunology, Department of Internal Medicine, Erasmus Medical Centre, PO Box 2040, Room D-XXX, 3000 CA Rotterdam, The Netherlands Division of Clinical Immunology, Department of Internal Medicine, Erasmus Medical Centre, PO Box 2040, Room D-XXX, 3000 CA Rotterdam, The Netherlands Division of Nephrology and Transplantation, Department of Internal Medicine, Erasmus Medical Centre, Rotterdam, The Netherlands Received 2013 Dec 23; Accepted 2014 Mar 14. Open AccessThis article is distributed under the terms of the Creative Commons Attribution License which permits any use, distribution, and reproduction in any medium, provided the original author(s) and the source are credited. This article has been cited by other articles in PMC. Renal acidbase homeostasis is a complex process, effectuated by bicarbonate reabsorption and acid secretion. Impairment of urinary acidification is called renal tubular acidosis (RTA). Distal renal tubular acidosis (dRTA) is the most Continue reading >>

Mediktor :: Symptom Checker

Mediktor :: Symptom Checker

Hypokalaemia is when potassium electrolytes in blood fall below 3.5 mEq/L (3.5 mmol/L). Renal loss is the most common cause of severe hypokalaemia. The kidneys' ability to regulate potassium absorption or excretion in the urine is impaired. Renal tubular acidosis (RTA) is a set of conditions involving normal anion gap (AG) hyperchloraemic metabolic acidosis caused by impaired bicarbonate reabsorption in the proximal renal tubule (proximal or type 2 RTA), impaired hydrogen electrolyte elimination in the distal tubule (distal or type 1 RTA) or type 4 or hyperkalaemic RTA (with increased potassium) due to aldosterone inaction. The decrease of this electrolyte in the blood leads to very general symptoms including fatigue, weakness, muscle pain and cramp, tingling and numbness in the extremities, constipation, etc. Potassium levels less than or equal to 3 mEq/L (moderate hypokalaemia) may cause cardiac arrhythmias, generally manifesting as a slowed heartbeat; this in turn can result in dizziness and loss of consciousness. Renal tubular acidosis can trigger symptoms ranging from lactation with vomiting, frequent urination and thirst to acute dehydration and stunted growth. If symptoms develop in the context of the causes mentioned above, you must consult a trusted doctor and undergo a complete physical examination as well as confirmatory diagnostic testing. In cases of mild hypokalaemia, it may be sufficient to add oral potassium supplements and consume food rich in this electrolyte (bananas, avocado, carrots, potatoes, oranges, kiwis, spinach, tomatoes, peas, beans, beef, salmon, etc.). More severe cases require intravenous potassium replacement. Here the long-term treatment is to administer substances to correct acidosis: citrate salts or sodium bicarbonate and potassium. Continue reading >>

Type 2 Tubular Acidosis And Hypokalemia

Type 2 Tubular Acidosis And Hypokalemia

SDN members see fewer ads and full resolution images. Join our non-profit community! Why does Type 2 tubular acidosis (where bicarb is not absorbed from PCT) also cause hypokalemia? Thanks in advance. Why does Type 2 tubular acidosis (where bicarb is not absorbed from PCT) also cause hypokalemia? Thanks in advance. Type 1 RTA occurs because the alpha-intercalated cell has defunct H+/K+ exchange pumps- therefore, since you cannot pump H+ into the lumen, you become acidotic, and because you can't take K+ out in this region either, you become Hypokalemic. Type 2 RTA occurs because for a variety of reasons (defunct Na+/Bicarb cotransporter, Carbonic Anhydrase deficiency, etc.), you cannot reabsorb bicarbonate in the proximal tubule. This increases Na+ delivery to the collecting duct, where Na+ is reabsorbed at the expense of K+ excretion. This occurs to maintain charge neutrality. Uptodate has an excellent article on this: "Pathophysiology of renal tubular acidosis and the effect on potassium balance" Type 1 RTA occurs because the alpha-intercalated cell has defunct H+/K+ exchange pumps- therefore, since you cannot pump H+ into the lumen, you become acidotic, and because you can't take K+ out in this region either, you become Hypokalemic. Type 2 RTA occurs because for a variety of reasons (defunct Na+/Bicarb cotransporter, Carbonic Anhydrase deficiency, etc.), you cannot reabsorb bicarbonate in the proximal tubule. This increases Na+ delivery to the collecting duct, where Na+ is reabsorbed at the expense of K+ excretion. This occurs to maintain charge neutrality. Uptodate has an excellent article on this: "Pathophysiology of renal tubular acidosis and the effect on potassium balance" Ty for your response. Can you elaborate on the connection between bicarb cotransporter and Continue reading >>

Hereditary And Acquired Renal Tubular Disorders: The Saudi Experience Sanjad Sa - Saudi J Kidney Dis Transpl

Hereditary And Acquired Renal Tubular Disorders: The Saudi Experience Sanjad Sa - Saudi J Kidney Dis Transpl

The renal tubular disorders present as specific transport defects involving one or multiple solutes, with little or no evidence of glomerular impairment. If unrecognized, however, some of these tubulopathies are associated with progressive interstitial nephropathy, glomerular involvement and renal failure. Hence the importance, of early diagnosis and treatment in an effort to prevent these complications. Because the majority of renal tubular disorders are hereditary in nature and transmitted by autosomal recessive genes, their frequency is expectedly high in populations where mutant genes exist and consanguineous marriages prevail such as in Saudi Arabia. A detailed account of the different reabsorptive and secretory processes occuring along the renal tubules is beyond the scope of this discussion, but a brief description will contribute to a better understanding of the different pathophysiological states associated with renal tubular disorders. Tubular reabsorption of the glomerular filtrate and its accompanying solutes constitutes one of the most important functions of the kidney. Because of the large number of invaginations, or microvilli, along its luminal membrane, the proximal tubular cell is particularly fit for that purpose. The microvilli have a brush border containing specific carrier proteins that translocate solutes across the cell. Many of these have been determined by DNA sequencing and seem to exhibit a high degree of homology, but in many instances the molecular mechanism for a carrier protein to transport a specific substance has not been determined [1] . Both active and passive transport mechanisms are operative in solute reabsorption. The energy for active transport is provided by a Na-K-ATPase pump located in the basolateral cell membrane [Figure - Continue reading >>

Renal Tubular Disorders

Renal Tubular Disorders

Renal tubular disorders are a very heterogeneous group of hereditary and acquired diseases that involve singular or complex dysfunctions of transporters and channels in the renal tubular system. The disorders may lead to fluid loss and abnormalities in electrolyte and acid-base homeostasis. Renal tubular acidosis ( RTA ) refers to normal anion gap (hyperchloremic) metabolic acidosis in the presence of normal or almost normal renal function. The various types of RTA include proximal tubular bicarbonate wasting (type II), distal tubular acid secretion (type I), very rarely carbonic anhydrase deficiency (type III) , and aldosterone deficiency/resistance (type IV). X-linked hypophosphatemic rickets , the most common form of hereditary hypophosphatemic rickets , is caused by phosphate wasting and presents with hypophosphatemia and symptoms related to rickets . Bartter syndrome , Liddle, and Gitelman syndrome are inherited disorders of tubular function that are characterized by hypokalemia and metabolic alkalosis . Renal tubular disorders are suspected when characteristic clinical features and/or laboratory findings are present. The diagnosis of hereditary conditions is usually confirmed by genetic testing. Treatment options vary depending on nature of the renal tubular disorder. Treatment: lifelong oral potassium substitution with potassium-sparing diuretics that directly block ENaC in the collecting duct (e.g., amiloride , triamterene ) 1. Soriano JR. Renal Tubular Acidosis: The Clinical Entity. J Am Soc Nephrol. 2002; 13(8): pp.21602170. doi: 10.1097/01.ASN.0000023430.92674.E5 . 2. McMillan JI. Renal Tubular Acidosis. . Updated January 1, 2016. Accessed April 10, 2017. 3. Mattoo TK. Etiology and clinical manifestations of renal tubular acidosis in infants and children. In Continue reading >>

Approach To The Adult With Metabolic Acidosis

Approach To The Adult With Metabolic Acidosis

INTRODUCTION On a typical Western diet, approximately 15,000 mmol of carbon dioxide (which can generate carbonic acid as it combines with water) and 50 to 100 mEq of nonvolatile acid (mostly sulfuric acid derived from the metabolism of sulfur-containing amino acids) are produced each day. Acid-base balance is maintained by pulmonary and renal excretion of carbon dioxide and nonvolatile acid, respectively. Renal excretion of acid involves the combination of hydrogen ions with urinary titratable acids, particularly phosphate (HPO42- + H+ —> H2PO4-), and ammonia to form ammonium (NH3 + H+ —> NH4+) [1]. The latter is the primary adaptive response since ammonia production from the metabolism of glutamine can be appropriately increased in response to an acid load [2]. Acid-base balance is usually assessed in terms of the bicarbonate-carbon dioxide buffer system: Dissolved CO2 + H2O <—> H2CO3 <—> HCO3- + H+ The ratio between these reactants can be expressed by the Henderson-Hasselbalch equation. By convention, the pKa of 6.10 is used when the dominator is the concentration of dissolved CO2, and this is proportional to the pCO2 (the actual concentration of the acid H2CO3 is very low): TI AU Garibotto G, Sofia A, Robaudo C, Saffioti S, Sala MR, Verzola D, Vettore M, Russo R, Procopio V, Deferrari G, Tessari P To evaluate the effects of chronic metabolic acidosis on protein dynamics and amino acid oxidation in the human kidney, a combination of organ isotopic ((14)C-leucine) and mass-balance techniques in 11 subjects with normal renal function undergoing venous catheterizations was used. Five of 11 studies were performed in the presence of metabolic acidosis. In subjects with normal acid-base balance, kidney protein degradation was 35% to 130% higher than protein synthesi Continue reading >>

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