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distal tubular acidosis

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https://www.readbyqxmd.com/read/29666732/renal-tubular-acidosis-an-adverse-effect-of-pd-1-inhibitor-immunotherapy
#1
Sandy El Bitar, Chanudi Weerasinghe, Elie El-Charabaty, Marcel Odaimi
Immune checkpoint blockade therapy is gaining popularity among oncologists for treatment of solid and hematologic malignancies. The widespread use of these agents resulted in increasing incidence of renal immune-related adverse events. Reported renal toxicity described so far includes acute interstitial nephritis, minimal change disease, and immune complex glomerulonephritis. We report the case of a 79-year-old female with metastatic non-small cell lung cancer on anti-PD-1 therapy nivolumab. After the 4th administration of nivolumab, the treatment course was complicated with normal anion gap metabolic acidosis...
2018: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/29657223/distal-renal-tubular-acidosis-in-sj%C3%A3-gren-s-syndrome
#2
Ram Narayan, Mansoor C Abdulla, Jemshad Alungal, N C Krishnadas
Interstitial nephritis and immune complex-mediated glomerulonephritis are the two common renal manifestations of primary Sjögren's syndrome (SS). Here, we discuss three cases of primary SS where presenting manifestation was distal renal tubular acidosis. The possibility of an underlying autoimmune disorder should be considered in a patient presenting with distal tubular acidosis or recurrent hypokalemic periodic paralysis as treatment of primary disease improves the outcome of illness.
March 2018: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/29651904/adaptor-protein-1-b-mu-subunit-does-not-contribute-to-the-recycling-of-kae1-protein-in-polarized-renal-epithelial-cells
#3
Ensaf Y Almomani, Nicolas Touret, Emmanuelle Cordat
Mutations in the gene encoding the kidney anion exchanger 1 (kAE1) can lead to distal renal tubular acidosis (dRTA). dRTA mutations reported within the carboxyl (C)-terminal tail of kAE1 result in apical mis-targeting of the exchanger in polarized renal epithelial cells. As kAE1 physically interacts with the μ subunit of epithelial adaptor protein 1 B (AP-1B), we investigated the role of heterologously expressed μ1B subunit of the AP-1B complex for kAE1 retention to the basolateral membrane in polarized porcine LLC-PK1 renal epithelial cells that are devoid of endogenous AP-1B...
April 13, 2018: Molecular Membrane Biology
https://www.readbyqxmd.com/read/29643635/regional-anesthesia-is-safe-and-effective-for-lower-limb-orthopedic-surgery-in-patient-with-renal-tubular-acidosis-and-hypokalemia
#4
Indira Gurajala, Sapna Annaji Nikhar, Kavitha Jayaram, Ramachandran Gopinath
Renal tubular acidosis (RTA) with hypokalemia may precipitate acute respiratory failure and potentially fatal arrhythmias like ventricular fibrillation. Though there are random reports of respiratory failure needing mechanical ventilation and sudden death in patients with RTA and hypokalemia, the anesthetic management of these patients has not been clearly elucidated. Acidosis and hypokalemia have significant interactions with both general and local anesthetics and alter their effect substantially. Proper preoperative planning and optimization are required for the safe conduct of anesthesia in this subset of patients...
January 2018: Journal of Anaesthesiology, Clinical Pharmacology
https://www.readbyqxmd.com/read/29627839/genotype-phenotype-analysis-in-pediatric-patients-with-distal-renal-tubular-acidosis
#5
Eujin Park, Myung Hyun Cho, Hye Sun Hyun, Jae Il Shin, Joo Hoon Lee, Young Seo Park, Hyun Jin Choi, Hee Gyung Kang, Hae Il Cheong
BACKGROUND/AIMS: Primary distal renal tubular acidosis (dRTA) in children is a rare genetic disorder, and three causative mutated genes have been identified: SLC4A1, ATP6V1B1, and ATP6V0A4. We analyzed the prevalence and phenotypic differences of genetic mutations in children with dRTA. METHODS: A total of 17 children with dRTA were enrolled in the study. All patients underwent genetic testing for all three candidate genes. RESULTS: Pathogenic mutations, including six novel mutations, were detected in 15 (88...
March 29, 2018: Kidney & Blood Pressure Research
https://www.readbyqxmd.com/read/29573245/primary-autosomal-recessive-distal-renal-tubular-acidosis-caused-by-a-common-homozygous-slc4a1-mutation-in-two-lao-families
#6
Eujin Park, Vilaphone Phaymany, Eun Sang Yi, Sommanikhone Phangmanixay, Hae Il Cheong, Yong Choi
Primary distal renal tubular acidosis (dRTA) caused by mutations of the SLC4A1 gene, which encodes for erythroid and kidney isoforms of anion exchanger, shows marked difference in inheritance patterns and clinical features in different parts of the world. While the disease shows autosomal dominant inheritance without any red cell morphological abnormalities in the temperate countries, it is almost invariably recessive, and often accompanies red cell morphological abnormalities or hemolytic anemia in the tropics, especially in Southeast Asia...
March 26, 2018: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/29564279/sporadic-hypothyroidism-related-hypokalemic-paralysis-diagnosis-in-a-resource-poor-setting
#7
Nadasha Kadeeja, Nivetha Senthilnathan, Stalin Viswanathan, Rajeswari Aghoram
Hypothyroidism and distal renal tubular acidosis causing hypokalemic paralysis (HP) have been described only in four female patients. HP as the initial manifestation of uncomplicated diabetes has been reported only in three young males. We report two middle-aged patients presenting with gradual-onset areflexic quadriparesis and neck flop, associated with urinary potassium losses, and recovering over 3 days. The male patient with alcohol abuse had urine pH >5.5 and hyperchloremic metabolic acidosis due to renal tubular acidosis and hypothyroidism...
October 2017: Journal of Family Medicine and Primary Care
https://www.readbyqxmd.com/read/29557611/renal-manifestations-in-children-with-alagille-syndrome
#8
Diana Di Pinto, Marta Adragna
INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. OBJECTIVES: To describe the prevalence, type and outcome of renal pathology in children with AS. PATIENTS AND METHODS: The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. RESULTS: Renal pathology was observed in 18 patients (85...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29527380/bartter-syndrome-type-1-presenting-as-nephrogenic-diabetes-insipidus
#9
Gianluca Vergine, Elena Fabbri, Annalisa Pedini, Silvana Tedeschi, Niccolò Borsa
Bartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the SLC12A1 gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis...
2018: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/29483157/mechanism-of-hyperkalemia-induced-metabolic-acidosis
#10
Autumn N Harris, P Richard Grimm, Hyun-Wook Lee, Eric Delpire, Lijuan Fang, Jill W Verlander, Paul A Welling, I David Weiner
Background Hyperkalemia in association with metabolic acidosis that are out of proportion to changes in glomerular filtration rate defines type 4 renal tubular acidosis (RTA), the most common RTA observed, but the molecular mechanisms underlying the associated metabolic acidosis are incompletely understood. We sought to determine whether hyperkalemia directly causes metabolic acidosis and, if so, the mechanisms through which this occurs. Methods We studied a genetic model of hyperkalemia that results from early distal convoluted tubule (DCT)-specific overexpression of constitutively active Ste20/SPS1-related proline-alanine-rich kinase (DCT-CA-SPAK)...
February 26, 2018: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/29482687/life-threatening-hypokalemic-quadriplegia-in-a-postoperative-patient
#11
Manoj Kamal, Geeta Singariya, Om Prakash Suthar, Ashwini S
Acute hypokalemic paralysis is a reversible but potentially lethal clinical condition. We report a case, who developed rapidonset quadriparesis in immediate postoperative period after undergoing right percutaneous nephrolithotomy for bilateral renal stones. On evaluation, she was found to have hypernatremic, hyperchloremic, hypokalemic acidosis. This severe hypokalemia-induced quadriparesis was precipitated by repeated furosemide injections, use of potassium-free fluid as maintenance, intracellular shift due to free water administration in this patient, who had pre-existing distal renal tubular acidosis...
March 2018: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29437164/primary-distal-renal-tubular-acidosis-novel-findings-in-patients-studied-by-next-generation-sequencing
#12
Juan Gómez, Helena Gil-Peña, Fernando Santos, Eliecer Coto, Ana Arango, Olaya Hernandez, Julián Rodríguez, Inmaculada Nadal, Virginia Cantos, Sara Chocrón, Inés Vergara, Álvaro Madrid, Carlos Vazquez, Luz E González
This corrects the article DOI: 10.1038/pr.2015.243.
January 2018: Pediatric Research
https://www.readbyqxmd.com/read/29398133/simultaneous-sequencing-of-37-genes-identified-causative-mutations-in-the-majority-of-children-with-renal-tubulopathies
#13
Emma J Ashton, Anne Legrand, Valerie Benoit, Isabelle Roncelin, Annabelle Venisse, Maria-Christina Zennaro, Xavier Jeunemaitre, Daniela Iancu, William G Van't Hoff, Stephen B Walsh, Nathalie Godefroid, Annelies Rotthier, Jurgen Del Favero, Olivier Devuyst, Franz Schaefer, Lucy A Jenkins, Robert Kleta, Karin Dahan, Rosa Vargas-Poussou, Detlef Bockenhauer
The clinical diagnosis of inherited renal tubulopathies can be challenging as they are rare and characterized by significant phenotypic variability. Advances in sequencing technologies facilitate the establishment of a molecular diagnosis. Therefore, we determined the diagnostic yield of a next generation sequencing panel assessing relevant disease genes in children followed through three national networks with a clinical diagnosis of a renal tubulopathy. DNA was amplified with a kit provided by the European Consortium for High-Throughput Research in Rare Kidney Diseases with nine multiplex PCR reactions...
April 2018: Kidney International
https://www.readbyqxmd.com/read/29384414/targeted-deletion-of-the-ncoa7-gene-results-in-incomplete-distal-renal-tubular-acidosis-in-mice
#14
Maria Merkulova, Teodor G Păunescu, Anil V Nair, Chia-Yu Wang, Diane E Capen, Peter L Oliver, Sylvie Breton, Dennis Brown
We recently reported that nuclear receptor coactivator 7 (Ncoa7) is a vacuolar proton pumping ATPase (V-ATPase) interacting protein whose function has not been defined. Ncoa7 is highly expressed in the kidney and partially co-localizes with the V-ATPase in collecting duct intercalated cells (ICs). Here, we hypothesized that targeted deletion of the Ncoa7 gene could affect V-ATPase activity in ICs in vivo. We tested this by analyzing the acid-base status, major electrolytes, and kidney morphology of Ncoa7 knockout (KO) mice...
January 31, 2018: American Journal of Physiology. Renal Physiology
https://www.readbyqxmd.com/read/29361865/sjogren-s-with-distal-renal-tubular-acidosis-complicating-pregnancy
#15
Anand Yuvaraj, Sudakshina Ghosh, Lakshmi Shanmugasundaram, Georgi Abraham
No abstract text is available yet for this article.
April 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29344504/new-findings-on-the-pathogenesis-of-distal-renal-tubular-acidosis
#16
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/29311258/molecular-mechanisms-of-cutis-laxa-and-distal-renal-tubular-acidosis-causing-mutations-in-v-atpase-a-subunits-atp6v0a2-and-atp6v0a4
#17
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, a 1- a 4, 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...
February 23, 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-acidosis
#18
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...
April 2018: Kidney International
https://www.readbyqxmd.com/read/29242249/acidosis-and-deafness-in-patients-with-recessive-mutations-in-foxi1
#19
Sven Enerbäck, Daniel Nilsson, Noel Edwards, Mikael Heglind, Sumaya Alkanderi, Emma Ashton, Asma Deeb, Feras E B Kokash, Abdul 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...
March 2018: 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
#20
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
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