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"Distal renal tubular acidosis"

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https://www.readbyqxmd.com/read/29875851/the-spectrum-of-kidney-diseases-in-children-associated-with-low-molecular-weight-proteinuria
#1
Shpetim Salihu, Katerina Tosheska, Natasa Aluloska, Zoran Gucev, Svetlana Cekovska, Velibor Tasic
BACKGROUND: Proteinuria, in addition to haematuria, is the most important laboratory parameter in patients with nephro-urological diseases. Low molecular weight proteinuria (LMWP) is of particular importance because some diseases genetic and tubulointerstitial are diagnosed based on its presence. AIM: The purpose of this study is to describe the clinical features, the course and outcome of pediatric patients with a renal disease associated with LMWP. MATERIAL AND METHODS: This retrospective observational study included 250 pediatric patients with various kidney diseases in which the type of proteinuria was defined by 4-20% gradient gel sodium dodecyl sulphate polyacrylamide gel (SDS-PAG) electrophoresis...
May 20, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29843146/haploinsufficiency-of-the-mouse-atp6v1b1-gene-leads-to-a-mild-acid-base-disturbance-with-implications-for-kidney-stone-disease
#2
Soline Bourgeois, Carla Bettoni, Stéphanie Baron, Carsten A Wagner
BACKGROUND/AIMS: Homozygous mutations or deletion of the ATP6V1B1 gene encoding for the B1 subunit of the vacuolar H+-ATPase leads to distal renal tubular acidosis in man and mice. In humans, heterozygous carriers of B1 mutations can develop incomplete dRTA with nephroclacinosis. Here, we investigated whether Atp6v1b1+/- mice also develop acid-base disturbances during an HCl acid load. METHODS: We subjected Atp6v1b1+/+, Atp6v1b1+/-, Atp6v1b1-/- to an HCl-load for 7 days and investigated acid-base status, kidney function, and expression of renal acid-base transport proteins...
May 25, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/29774167/complete-hypokalemic-quadriparesis-as-a-first-presentation-of-sj%C3%A3-gren-syndrome
#3
Jason An, Branko Braam
Rationale: We hope to increase awareness that hypokalemic paralysis may be the first presentation of Sjögren syndrome, for which potassium-sparing diuretics can be an effective adjunct to potassium replenishment. Presenting concerns: A 73-year-old female presented to a peripheral hospital with quadriparesis and a critically low serum potassium of 1.6 mmol/L with U waves on the electrocardiogram (ECG). The initial arterial blood gas showed a pH of 7.19, bicarbonate of 13 mEq/L, and a CO2 of 35 mm Hg...
2018: Canadian Journal of Kidney Health and Disease
https://www.readbyqxmd.com/read/29725771/distal-renal-tubular-acidosis-clinical-manifestations-in-patients-with-different-underlying-gene-mutations
#4
Marta Alonso-Varela, Helena Gil-Peña, Eliecer Coto, Juan Gómez, Julián Rodríguez, Enrique Rodríguez-Rubio, Fernando Santos
BACKGROUND: To evaluate whether there are differences in the phenotype of primary distal renal tubular acidosis (dRTA) patients according to the causal defective gene. METHODS: Twenty-seven non-oriental patients with genetically confirmed dRTA were grouped according to the identified underlying mutations in either ATP6V1B1 (n = 10), ATP6V0A4 (n = 12), or SLC4A1 (n = 5) gene. Demographic features, growth impairment, biochemical variables and presence of deafness, nephrocalcinosis, and urolithiasis at diagnosis were compared among the three groups...
May 3, 2018: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29716758/distal-renal-tubular-acidosis-in-two-children-with-acquired-hypothyroidism
#5
Norma E Guerra-Hernández, Karen V Ordaz-López, Rosa Vargas-Poussou, Laura Escobar-Pérez, Víctor M García-Nieto
Two cases of children diagnosed with renal tubular acidosis (RTA) associated with autoimmune hypothyroidism are presented. Case 1 developed an intestinal ileus at the age of five in the context of a respiratory problem. The tests performed confirmed metabolic acidosis, hyperchloraemia, hypokalaemia and nephrocalcinosis. Case 2 was diagnosed with hypothyroidism at the age of 11, and with RTA two years later. In both patients, the diagnosis of RTA was verified when decreased maximum urinary pCO2 was found. In case 2, a proximal bicarbonate leak (type 3 RTA) was also confirmed...
April 28, 2018: Nefrología: Publicación Oficial de la Sociedad Española Nefrologia
https://www.readbyqxmd.com/read/29666732/renal-tubular-acidosis-an-adverse-effect-of-pd-1-inhibitor-immunotherapy
#6
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
#7
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
#8
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/29627839/genotype-phenotype-analysis-in-pediatric-patients-with-distal-renal-tubular-acidosis
#9
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...
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
#10
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
#11
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
#12
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
#13
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/29482687/life-threatening-hypokalemic-quadriplegia-in-a-postoperative-patient
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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