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Tubular renal acidosis

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https://www.readbyqxmd.com/read/29344509/review-of-the-diagnostic-evaluation-of-normal-anion-gap-metabolic-acidosis
#1
REVIEW
Kenrick Berend
Background: Normal anion gap metabolic acidosis is a common but often misdiagnosed clinical condition associated with diarrhea and renal tubular acidosis (RTA). Early identification of RTA remains challenging for inexperienced physicians, and diagnosis and treatment are often delayed. Summary: The presence of RTA should be considered in any patient with a high chloride level when the CL-/Na+ ratio is above 0.79, if the patient does not have diarrhea. In patients with significant hyperkalemia one should evaluate for RTA type 4, especially in diabetic patients, with a relatively conserved renal function...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29344504/new-findings-on-the-pathogenesis-of-distal-renal-tubular-acidosis
#2
REVIEW
Francesco Trepiccione, Federica Prosperi, Luigi Regenburgh de la Motte, Christian A Hübner, Regine Chambrey, Dominique Eladari, Giovambattista Capasso
Background: Distal renal tubular acidosis (dRTA) is characterized by an impairment of the urinary acidification process in the distal nephron. Complete or incomplete metabolic acidosis coupled with inappropriately alkaline urine are the hallmarks of this condition. Genetic forms of dRTA are caused by loss of function mutations of either SLC4A1, encoding the AE1 anion exchanger, or ATP6V1B1 and ATP6V0A4, encoding for the B1 and a4 subunits of the vH+ATPase, respectively. These genes are crucial for the function of A-type intercalated cells (A-IC) of the distal nephron...
December 2017: Kidney Diseases
https://www.readbyqxmd.com/read/29340149/acute-kidney-injury-due-to-multiple-hymenoptera-stings-a-clinicopathological-study
#3
Sanjay Vikrant, Anupam Parashar
Background: Acute kidney injury (AKI) after multiple Hymenoptera stings is well known but still a rare phenomenon. Methods: We conducted a retrospective study of the clinicopathological spectrum of AKI due to multiple Hymenoptera stings over 13 years (July 2003-June 2016). Results: A total of 35 patients were diagnosed with AKI due to multiple Hymenoptera stings. The mean age of the patients was 44.7 ± 17.4 years and the majority (60%) were men...
August 2017: Clinical Kidney Journal
https://www.readbyqxmd.com/read/29319780/diabetes-mellitus-and-hyperkalemic-renal-tubular-acidosis-case-reports-and-literature-review
#4
Carlos Henrique Pires Ratto Tavares Bello, João Sequeira Duarte, Carlos Vasconcelos
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...
October 2017: Jornal Brasileiro de Nefrologia: ʹorgão Oficial de Sociedades Brasileira e Latino-Americana de Nefrologia
https://www.readbyqxmd.com/read/29311258/molecular-mechanisms-of-cutis-laxa-and-distal-renal-tubular-acidosis-causing-mutations-in-v-atpase-a-subunits-atp6v0a2-and-atp6v0a4
#5
Sally Esmail, Norbert Kartner, Yeqi Yao, Joo Wan Kim, Reinhart A F Reithmeier, Morris F Manolson
The a subunit is the largest of 15 different subunits that make up the vacuolar H+-ATPase (V-ATPase) complex, where it functions in proton translocation. In mammals, this subunit has four paralogous isoforms, a1-a4, which may encode signals for targeting assembled V-ATPases to specific intracellular locations. Despite the functional importance of the a subunit, its structure remains controversial. By studying molecular mechanisms of human disease-causing missense mutations within a subunit isoforms, we may identify domains critical for V-ATPase targeting, activity and/or regulation...
January 8, 2018: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29310826/changes-in-v-atpase-subunits-of-human-urinary-exosomes-reflect-the-renal-response-to-acute-acid-alkali-loading-and-the-defects-in-distal-renal-tubular%C3%A2-acidosis
#6
Ganesh Pathare, Nasser A Dhayat, Nilufar Mohebbi, Carsten A Wagner, Ion A Bobulescu, Orson W Moe, Daniel G Fuster
In the kidney, final urinary acidification is achieved by V-ATPases expressed in type A intercalated cells. The B1 subunit of the V-ATPase is required for maximal urinary acidification, while the role of the homologous B2 subunit is less clear. Here we examined the effect of acute acid/alkali loading in humans on B1 and B2 subunit abundance in urinary exosomes in normal individuals and of acid loading in patients with distal renal tubular acidosis (dRTA). Specificities of B1 and B2 subunit antibodies were verified by yeast heterologously expressing human B1 and B2 subunits, and murine wild-type and B1-deleted kidney lysates...
January 6, 2018: Kidney International
https://www.readbyqxmd.com/read/29286387/establishment-of-an-extracellular-acidic-ph-culture-system
#7
Ayano Kondo, Tsuyoshi Osawa
Conditions of the tumor microenvironment, such as hypoxia or nutrient starvation, play critical roles in cancer progression and malignancy. However, the role of acidic extracellular pH in tumor aggressiveness and its underlying mechanism has not been extensively studied compared to hypoxic or nutrient starvation conditions. In addition, a well-defined culture method to mimic the acidic extracellular tumor microenvironment has not been fully reported. Here we present a simple in vitro culture method to maintain acidic extracellular pH using reduced bicarbonate and increased lactate or HCl concentrations in the culture medium...
November 19, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29283977/divergent-effects-of-hypertonic-fluid-resuscitation-on-renal-pathophysiological-and-structural-parameters-in-rat-model-of-lower-body-ischemia-reperfusion-induced-sterile-inflammation
#8
Bulent Ergin, Coert J Zuurbier, Aysegul Kapucu, Can Ince
The pathogenesis of acute kidney injury (AKI) is characterized by the deterioration of tissue perfusion and oxygenation and enhanced inflammation. The purpose of this study was to investigate whether or not the hemodynamic and inflammatory effects of hypertonic saline (HS) protect the kidney by promoting renal microcirculatory oxygenation and possible deleterious effects of HS due to its high sodium content on renal functional and structural injury following ischemia/reperfusion. Mechanically ventilated and anesthetized rats were randomly divided into four groups (n = 6 per group): a sham-operated control group; a group subjected to renal ischemia for 45 min by supra-aortic occlusion followed by 2 h of reperfusion (I/R); and I/R group treated with a continuous i...
December 27, 2017: Shock
https://www.readbyqxmd.com/read/29242249/acidosis-and-deafness-in-patients-with-recessive-mutations-in-foxi1
#9
Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi, Emma Ashton, Asma Deeb, Feras E B Kokash, Abdulrahim R A Bakhsh, William Van't Hoff, Stephen B Walsh, Felice D'Arco, Arezoo Daryadel, Soline Bourgeois, Carsten A Wagner, Robert Kleta, Detlef Bockenhauer, John A Sayer
Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription factor FOXI1. In two unrelated consanguineous families, we identified three patients with novel homozygous missense mutations in FOXI1 (p.L146F and p.R213P) predicted to affect the highly conserved DNA binding domain. Patients presented with early-onset sensorineural deafness and distal renal tubular acidosis...
December 14, 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29220070/recurrent-hypokalemia-leading-to-flaccid-quadriparesis-a-renal-or-connective-tissue-disorder
#10
Nitin Bansal, Panda Ashwin Kumar, Mukul P Agarwal, Amitesh Aggarwal
Hypokalemic periodic paralysis (hypoKPP) is a clinical entity characterized by recurrent skeletal muscle paralysis due to a decrease in serum potassium levels; hypoKPP can have either a primary (familial) or a secondary cause. One of the secondary causes of hypoKPP is distal renal tubular acidosis (dRTA). Distal renal tubular acidosis (dRTA) is diagnosed when the urinary pH is greater than 5.3 and in the presence of hyperchloremic metabolic acidosis and hypokalemia, with one of the causes being primary Sjögren's syndrome (pSS)...
December 2017: Puerto Rico Health Sciences Journal
https://www.readbyqxmd.com/read/29202719/an-in-vitro-splicing-assay-reveals-the-pathogenicity-of-a-novel-intronic-variant-in-atp6v0a4-for-autosomal-recessive-distal-renal-tubular-acidosis
#11
Tomohiko Yamamura, Kandai Nozu, Yuya Miyoshi, Keita Nakanishi, Junya Fujimura, Tomoko Horinouchi, Shogo Minamikawa, Nobuo Mori, Rika Fujimaru, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Taniguchi-Ikeda Mariko, Ichiro Morioka, Masafumi Matsuo, Kazumoto Iijima
BACKGROUND: Autosomal recessive distal renal tubular acidosis (dRTA) is a rare hereditary disease caused by pathogenic variants in the ATP6V0A4 gene or ATP6V1B1 gene, and characterized by hyperchloremic metabolic acidosis with normal anion gap, hypokalemia, hypercalciuria, hypocitraturia and nephrocalcinosis. Although several intronic nucleotide variants in these genes have been detected, all of them fell in the apparent splice consensus sequence. In general, transcriptional analysis is necessary to determine the effect on function of the novel intronic variants located out of splicing consensus sequences...
December 4, 2017: BMC Nephrology
https://www.readbyqxmd.com/read/29178965/a-child-with-distal-type-1-renal-tubular-acidosis-presenting-with-progressive-gross-motor-developmental-regression-and-acute-paralysis
#12
Randula Ranawaka, Kavinda Dayasiri, Manoji Gamage
BACKGROUND: Distal (Type 1) renal tubular acidosis (dRTA) is characterized by inability to secrete hydrogen irons from the distal tubule. The aetiology of dRTA is diverse and can be either inherited or acquired. Common clinical presentations of dRTA in the paediatric age group include polyuria, nocturia, failure to thrive, constipation, abnormal breathing and nephrolithiasis. Though persistent hypokalemia is frequently seen in dRTA, hypokalemic muscular paralysis is uncommon and rarely described in children...
November 25, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/29178032/lithium-increases-ammonium-excretion-leading-to-altered-urinary-acid-base-buffer-composition
#13
Francesco Trepiccione, Claudia Altobelli, Giovambattista Capasso, Birgitte Mønster Christensen, Sebastian Frische
Previous reports identify a voltage dependent distal renal tubular acidosis (dRTA) secondary to lithium (Li+) salt administration. This was based on the inability of Li+-treated patients to increase the urine-blood (U-B) pCO2 when challenged with NaHCO3 and, the ability of sodium neutral phosphate or Na2SO4 administration to restore U-B pCO2 in experimental animal models. The underlying mechanisms for the Li+-induced dRTA are still unknown. To address this point, a 7 days time course of the urinary acid-base parameters was investigated in rats challenged with LiCl, LiCitrate, NaCl, or NaCitrate...
November 24, 2017: Journal of Nephrology
https://www.readbyqxmd.com/read/29134448/hyperammonemia-associated-with-distal-renal-tubular-acidosis-or-urinary-tract-infection-a-systematic-review
#14
Caterina M Clericetti, Gregorio P Milani, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Olivier Giannini
BACKGROUND: Hyperammonemia usually results from an inborn error of metabolism or from an advanced liver disease. Individual case reports suggest that both distal renal tubular acidosis and urinary tract infection may also result in hyperammonemia. METHODS: A systematic review of the literature on hyperammonemia secondary to distal renal tubular acidosis and urinary tract infection was conducted. RESULTS: We identified 39 reports on distal renal tubular acidosis or urinary tract infections in association with hyperammonemia published between 1980 and 2017...
November 13, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29116606/fanconi-syndrome-and-neonatal-diabetes-phenotypic-heterogeneity-in-patients-with-glut2-defects
#15
Priyanka Khandelwal, Aditi Sinha, Vandana Jain, Jayne Houghton, Pankaj Hari, Arvind Bagga
Fanconi-Bickel syndrome, caused by mutations in SLC2A2 encoding the glucose transporter 2 (GLUT2), is characterized by generalized proximal renal tubular dysfunction manifesting in late infancy. We describe phenotypic heterogeneity of Fanconi-Bickel syndrome in three siblings, including early and atypical presentation with transient neonatal diabetes mellitus in one. The second-born of a non-consanguineous couple, evaluated for polyuria and growth retardation, had rickets, hepatomegaly and proximal tubular dysfunction from 4 to 6  months of age...
November 8, 2017: CEN Case Reports
https://www.readbyqxmd.com/read/29093127/renal-tubular-acidosis
#16
EDITORIAL
Jonathan Pelletier, Rasheed Gbadegesin, Betty Staples
No abstract text is available yet for this article.
November 2017: Pediatrics in Review
https://www.readbyqxmd.com/read/29075541/unusual-complication-of-multidrug-resistant-tuberculosis
#17
Prerna Sharma, Ravindra Nath Sahay
INTRODUCTION: Capreomycin is a second-line drug often used for multidrug-resistant tuberculosis which can result in nephrotoxic effects similar to other aminoglycosides. We describe a case of capreomycin induced Bartter-like syndrome with hypocalcemic tetany. CASE REPORT: 23-year-old female patient presented with carpopedal spasms and tingling sensations in hands. Patient was being treated with capreomycin for two months for tuberculosis. On further investigation, hypocalcemia, hyponatremia, hypomagnesemia, hypokalemia, and hypochloremic metabolic alkalosis were noted...
2017: Case Reports in Nephrology
https://www.readbyqxmd.com/read/29062185/a-case-of-renal-tubular-acidosis-with-sjogren-s-syndrome-showing-paradoxical-block-of-pth-due-to-severe-hypomagnesemia
#18
B Vinodh Kumar, M Sivalingam, G Shiva Kumaran, Balambal Balakrishnan
Distal renal tubular acidosis (RTA) manifests either as Complete/Classical form or Incomplete/Latent Form. Distal RTA causes normal anion gap metabolic acidosis and hypokalemia. Interstitial Nephritis is the most frequent renal manifestation of Sjogren's, which presents as Distal RTA in 25-40% of patients with Sjogren's syndrome. Magnesium deficiency is frequently associated with hypokalemia. Although serum calcium is the main physiological control for the secretion of parathyroid hormone (PTH) by the parathyroid, serum magnesium can also exert similar effects...
October 2017: Indian Journal of Clinical Biochemistry: IJCB
https://www.readbyqxmd.com/read/29042903/renal-tubular-acidosis-in-patients-with-primary-sj%C3%A3-gren-s-syndrome
#19
Su Woong Jung, Eun Ji Park, Jin Sug Kim, Tae Won Lee, Chun Gyoo Ihm, Sang Ho Lee, Ju-Young Moon, Yang Gyun Kim, Kyung Hwan Jeong
Primary Sjögren's syndrome (pSS) is characterized by lymphocytic infiltration of the exocrine glands resulting in decreased saliva and tear production. It uncommonly involves the kidneys in various forms, including tubulointerstitial nephritis, renal tubular acidosis, Fanconi syndrome, and rarely glomerulonephritis. Its clinical symptoms include muscle weakness, periodic paralysis, and bone pain due to metabolic acidosis and electrolyte imbalance. Herein, we describe the cases of two women with pSS whose presenting symptoms involve the kidneys...
September 2017: Electrolyte & Blood Pressure: E & BP
https://www.readbyqxmd.com/read/29029882/anesthetic-considerations-in-a-parturient-with-renal-tubular-acidosis-and-hypothyroidism-undergoing-cesarean-delivery
#20
P Sangwan, B Srinivasan, S Janweja, S Jangid
Renal tubular acidosis, associated with hypothyroidism, is rare. We present the case of a woman with known renal tubular acidosis and treated hypothyroidism who underwent emergency cesarean delivery under uneventful combined spinal-epidural anesthesia. The rationale for choosing the anesthetic technique and the potential risks associated with anesthesia and renal tubular acidosis are discussed.
August 31, 2017: International Journal of Obstetric Anesthesia
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